Gallstones are hard, pebble-like deposits that form inside the gallbladder. The gallbladder is a small organ located under the liver that stores and releases bile, a digestive fluid. Gallstones can range in size from a grain of sand to a golf ball. Many people have gallstones without experiencing symptoms. However, if a gallstone blocks a bile duct, it can cause pain, inflammation, and infection.
A ganglion cyst is a noncancerous, fluid-filled lump that most commonly develops along the tendons or joints of your wrists or hands. They can also occur in the ankles and feet. The cyst looks like a small sac of liquid under the skin and can range in size from very small (pea-sized) to about an inch in diameter. Some ganglion cysts are painful, interfering with joint movement. Many, however, are painless.
Gangrene is a serious condition that occurs when body tissue dies due to a lack of blood supply or a serious bacterial infection. It most commonly affects the extremities, including fingers, toes, and limbs, but can also occur inside the body. There are several types of gangrene, each with its own characteristics and causes. Prompt treatment, often involving surgery and antibiotics, is crucial to prevent the spread of infection and potentially life-threatening complications.
Gastric cancer, also known as stomach cancer, is a disease in which malignant cells form in the lining of the stomach. It can develop in any part of the stomach and spread to other organs, such as the liver, lungs, and lymph nodes. It is often diagnosed in advanced stages due to non-specific early symptoms.
A gastric ulcer is a sore on the lining of the stomach. It's a type of peptic ulcer disease, which also includes ulcers in the duodenum (the first part of the small intestine). Gastric ulcers occur when stomach acid damages the stomach lining.
Gastritis is an inflammation of the lining of the stomach. It can be caused by a variety of factors, including infection, irritants, and autoimmune disorders. Gastritis can be acute (sudden onset) or chronic (long-lasting).
Gastroenteritis, often called "stomach flu" (though not related to influenza), is an inflammation of the stomach and intestines, typically caused by viral or bacterial infection. It leads to a variety of symptoms, primarily diarrhea, vomiting, and abdominal pain. The condition is usually self-limiting, resolving within a few days, but it can be severe in infants, the elderly, and those with compromised immune systems, potentially leading to dehydration and requiring medical attention.
: Gastroesophageal Reflux Disease (GERD) is a chronic digestive disease that occurs when stomach acid or, occasionally, bile flows back into the esophagus (the tube that connects your mouth and stomach). This backwash (reflux) irritates the lining of your esophagus and causes GERD.
Gastroparesis is a condition that affects the stomach's ability to empty its contents normally. It's also known as delayed gastric emptying. This happens even though there is no blockage or obstruction in the stomach. The stomach muscles, controlled by the vagus nerve, don't work properly, slowing down or stopping the movement of food from the stomach to the small intestine.
Gastroschisis is a birth defect where a baby's intestines (and sometimes other organs like the stomach or liver) stick outside of the body through a hole in the abdominal wall. This hole usually forms next to the belly button. The intestines are not covered by a protective sac, unlike with another similar condition called omphalocele. Gastroschisis requires surgical repair soon after birth.
Type 1 (Non-neuropathic): This is the most common type. Symptoms may include:
Enlarged spleen (splenomegaly)
Enlarged liver (hepatomegaly)
Bone pain, fractures, and bone crises
Anemia (low red blood cell count)
Thrombocytopenia (low platelet count, leading to easy bruising and bleeding)
Fatigue
Delayed growth and puberty in children
Type 2 (Acute Neuropathic): This is a severe form that begins in infancy. Symptoms include:
Severe neurological problems (seizures, brain damage)
Enlarged spleen and liver
Developmental delays
Difficulty breathing
Life expectancy is typically short (usually within the first few years of life)
Type 3 (Chronic Neuropathic): This form has neurological symptoms that progress more slowly than Type may include:
Enlarged spleen and liver
Bone problems
Eye movement abnormalities
Seizures
Cognitive impairment
Excessive worry and anxiety about a variety of topics
Difficulty controlling worry
Feeling restless, wound-up, or on-edge
Being easily fatigued
Difficulty concentrating
Irritability
Muscle tension
Sleep disturbances (difficulty falling or staying asleep, or restless, unsatisfying sleep)
Genetic disorders are diseases caused by abnormalities in an individual's DNA. These abnormalities can range from a single mutation in a gene to the addition or subtraction of an entire chromosome. Genetic disorders can be inherited from parents, arise spontaneously through new mutations, or be caused by environmental factors. The severity and presentation of genetic disorders vary widely depending on the specific genetic abnormality.
Genital herpes is a common sexually transmitted infection (STI) caused by the herpes simplex virus (HSV). HSV-1 and HSV-2 are the two types of viruses that can cause genital herpes. HSV-2 is more commonly associated with genital herpes. The infection can cause painful sores on the genitals, buttocks, or inner thighs. Many people with genital herpes are unaware they have it because they may have no symptoms or very mild symptoms.
Genital warts are a common sexually transmitted infection (STI) caused by the human papillomavirus (HPV). They appear as soft, flesh-colored bumps or growths on the genitals, in the groin area, or around the anus. While they are not life-threatening, they can be uncomfortable, cause psychological distress, and require medical treatment. Certain strains of HPV that cause genital warts are different from those that cause cervical cancer, but co-infection is possible.
Geriatric depression is a mood disorder affecting older adults, characterized by persistent feelings of sadness, loss of interest in activities, and other emotional and physical problems. It's not a normal part of aging and can significantly impair an older person's quality of life, functional abilities, and overall health. It is often underdiagnosed and undertreated in this population.
Gestational diabetes is a type of diabetes that develops during pregnancy in women who did not have diabetes before. It's characterized by high blood sugar (glucose) levels. If not properly managed, it can affect both the mother's health and the baby's health. Gestational diabetes typically resolves after the baby is born.
Giardiasis is an intestinal infection caused by the microscopic parasite
Giardia duodenalis
(also known as
Giardia intestinalis
or
Giardia lamblia
). It causes gastrointestinal distress and is a common cause of diarrheal illness worldwide. It is found in water, food, soil, or surfaces that have been contaminated with feces from infected humans or animals.
Gilbert's syndrome is a mild, inherited liver disorder in which the liver doesn't properly process bilirubin, a yellow pigment produced from the breakdown of red blood cells. This leads to elevated levels of bilirubin in the blood (hyperbilirubinemia), causing jaundice (yellowing of the skin and eyes) in some individuals. It's a relatively common condition and usually harmless, requiring no treatment in most cases.
Gingivitis is a common and mild form of gum disease (periodontal disease) that causes inflammation of the gums (gingiva). It's usually caused by poor oral hygiene, which leads to plaque buildup on the teeth. Gingivitis is reversible with professional treatment and good oral care at home. If left untreated, gingivitis can progress to periodontitis, a more serious form of gum disease that can lead to tooth loss.
Persistent headaches (often worse in the morning)
Seizures
Nausea and vomiting
Weakness or numbness in the limbs (often on one side of the body)
Difficulty with speech or understanding language
Vision changes (blurred vision, double vision)
Changes in personality or behavior
Memory problems
Balance and coordination problems
Giant cell arteritis (GCA) is an inflammatory disease that affects medium and large arteries, most commonly the arteries in the head, especially the temporal arteries. It can cause headaches, vision problems, jaw pain, and other symptoms. If left untreated, it can lead to blindness and other serious complications. GCA is most common in older adults, typically over the age of 50.
Glomerulonephritis is inflammation of the glomeruli, which are tiny filters in your kidneys that remove waste and excess fluids from the blood. This inflammation can damage the kidneys' ability to filter properly, leading to various health problems, including kidney failure. It can be acute (sudden onset) or chronic (gradual onset).
Glottic stenosis is a narrowing of the glottis, the part of the larynx (voice box) containing the vocal cords. This narrowing restricts airflow, causing difficulty breathing and affecting voice quality. The severity can range from mild, causing slight hoarseness, to severe, leading to significant airway obstruction requiring immediate medical intervention. It can be congenital (present at birth) or acquired due to various factors.
Glossitis is inflammation of the tongue, causing it to change color and texture. The surface of the tongue may appear smooth. It can cause pain, tenderness, or difficulty speaking, swallowing, or eating.
Glucagonoma is a rare tumor of the alpha cells of the pancreas that produces excessive amounts of the hormone glucagon. This overproduction leads to a characteristic set of symptoms, most notably a skin rash called necrolytic migratory erythema (NME), weight loss, and diabetes. Glucagonomas are usually cancerous (malignant) and often have spread to other parts of the body (metastasized) by the time they are diagnosed.
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD Deficiency) is a genetic enzyme deficiency that affects red blood cells. Individuals with G6PD deficiency don't have enough of the G6PD enzyme, which helps red blood cells function properly and protects them from damage. This can lead to hemolytic anemia, where red blood cells are destroyed faster than they can be made. Many individuals with G6PD deficiency are asymptomatic until exposed to specific triggers.
Gluten intolerance, also known as non-celiac gluten sensitivity (NCGS), is a condition characterized by adverse reactions to gluten in individuals who do not have celiac disease or a wheat allergy. It involves a range of symptoms that occur after consuming gluten-containing foods. While the exact mechanisms aren't fully understood, it's thought to involve an immune response, possibly affecting the gut lining and nervous system.
Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by defects in enzymes that regulate either glycogen synthesis or glycogen breakdown. Glycogen is the stored form of glucose, and these defects prevent the body from properly storing or breaking down glycogen, leading to abnormal amounts or forms of glycogen accumulating in the liver, muscles, and other tissues. Different types of GSD exist, each caused by a deficiency in a specific enzyme, leading to varying symptoms and severity.
Goiter is an abnormal enlargement of the thyroid gland. The thyroid gland, located in the front of the neck, produces hormones that regulate metabolism. Goiters can be small or large, and may or may not be associated with thyroid dysfunction. They can be caused by various factors including iodine deficiency, thyroid nodules, autoimmune diseases, and certain medications.
:
Gonorrhea is a sexually transmitted infection (STI) caused by the bacterium
Neisseria gonorrhoeae
. It can infect the genitals, rectum, and throat. It is a common infection, particularly among young adults. If left untreated, it can lead to serious health problems.
Goodpasture syndrome is a rare autoimmune disorder that primarily affects the lungs and kidneys. The immune system mistakenly attacks the basement membranes in these organs, leading to inflammation and damage. It is characterized by the presence of anti-glomerular basement membrane (anti-GBM) antibodies. If left untreated, Goodpasture syndrome can rapidly progress to kidney failure and respiratory failure.
Gout is a common and complex form of arthritis characterized by sudden, severe attacks of pain, swelling, redness and tenderness in one or more joints, most often in the big toe. It occurs when urate crystals accumulate in your joint, causing inflammation and intense pain. Excess uric acid in the blood (hyperuricemia) is the underlying cause.
Granulomatosis with Polyangiitis (GPA), formerly known as Wegener's Granulomatosis, is a rare autoimmune disorder that causes inflammation of blood vessels (vasculitis). This inflammation can affect various organs, but most commonly affects the sinuses, lungs, and kidneys. GPA is characterized by the formation of granulomas (clumps of immune cells) around the inflamed vessels. Left untreated, GPA can lead to organ damage and even be life-threatening.
Graves' disease is an autoimmune disorder that results in hyperthyroidism, or overactivity of the thyroid gland. The thyroid gland produces hormones that regulate metabolism. In Graves' disease, the immune system mistakenly attacks the thyroid gland, causing it to produce too much thyroid hormone.
Group A Streptococcus (GAS) infection is a common bacterial infection caused by the bacterium
Streptococcus pyogenes
. GAS can cause a range of illnesses, from mild infections like strep throat and impetigo to severe, life-threatening conditions like necrotizing fasciitis ("flesh-eating disease") and streptococcal toxic shock syndrome (STSS).
Guillain-Barré Syndrome (GBS) is a rare autoimmune disorder in which the body's immune system attacks its own nerves. This can lead to muscle weakness, paralysis, and potentially life-threatening complications. GBS typically starts with tingling and weakness in the feet and legs that spreads to the upper body and arms.
Gum disease, also known as periodontal disease, is an infection of the tissues that hold your teeth in place. It's usually caused by poor oral hygiene, which allows plaque (a sticky film of bacteria) to build up on the teeth and harden into tartar (calculus). Gingivitis, the mildest form, causes red, swollen, and easily bleeding gums. If left untreated, it can progress to periodontitis, a more severe form that damages the soft tissue and bone that support the teeth. This can lead to tooth loss.
: Gynecomastia is a condition characterized by the enlargement of breast tissue in males. It can affect one or both breasts and may occur at various stages of life, including infancy, puberty, and adulthood. While often benign, it can cause psychological distress and, in rare cases, may indicate an underlying medical condition.
1. Summary about disease No information available.
GRIN2B-Related Neurodevelopmental Disorder is a genetic condition caused by mutations in the
GRIN2B
gene. This gene provides instructions for making a subunit of the NMDA receptor, which is crucial for brain development, learning, and memory. The disorder typically presents with a range of neurological and developmental issues, impacting motor skills, speech, and cognitive abilities. Severity varies significantly between individuals.
Griscelli syndrome (GS) is a rare autosomal recessive disorder affecting pigmentation (skin and hair color), immune function, and neurological function. There are three known types, each resulting from a mutation in a different gene, but all share the characteristic silvery-gray hair and skin hypopigmentation. The severity and specific manifestations vary depending on the type of GS.
Growth Hormone Deficiency (GHD) is a medical condition where the pituitary gland doesn't produce enough growth hormone (GH). GH is crucial for growth, cell regeneration, and maintaining healthy body composition. GHD can affect children and adults, with varying symptoms and causes depending on the age of onset. In children, it primarily manifests as growth retardation. In adults, it can lead to metabolic abnormalities, reduced bone density, and decreased muscle mass. Treatment typically involves growth hormone replacement therapy.
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare, inherited metabolic disorder that affects the brain and muscles. It is caused by a lack of the enzyme GAMT, which is essential for the production of creatine. Creatine is vital for energy storage and utilization, especially in the brain and muscles. Without enough creatine, these tissues don't function properly, leading to a range of neurological and muscular symptoms.
Guillain-Barré Syndrome (GBS) is a rare autoimmune disorder in which the body's immune system attacks its own nerves. This can lead to muscle weakness and paralysis. The syndrome can range from a very mild case with brief weakness to a devastating paralysis that leaves the person unable to breathe independently.
Guttate psoriasis is a form of psoriasis that appears as small, drop-like, scaling lesions (papules) on the skin. It often develops suddenly, frequently following a streptococcal throat infection. It's most common in children and young adults.
Gamstorp-Wohlfart Syndrome (GWS), also known as Myokymia, Hyperhidrosis, and Muscle Wasting Syndrome, is a very rare genetic disorder characterized by myokymia (continuous quivering or rippling of muscles), muscle weakness and wasting (atrophy), and excessive sweating (hyperhidrosis). The severity and presentation of symptoms can vary considerably from person to person.
Gardner syndrome is a rare genetic disorder characterized by the presence of multiple colorectal polyps (adenomas), benign bone tumors (osteomas), and skin cysts (epidermoid cysts). It is a variant of familial adenomatous polyposis (FAP), an inherited condition that significantly increases the risk of developing colorectal cancer. Other features may include dental abnormalities, desmoid tumors, and congenital hypertrophy of the retinal pigment epithelium (CHRPE).
Gasserian ganglion neuralgia, more commonly known as trigeminal neuralgia, is a chronic pain condition that affects the trigeminal nerve (cranial nerve V). This nerve carries sensation from your face to your brain. Trigeminal neuralgia causes extreme, sudden burning or shock-like facial pain that can last from a few seconds to as long as two minutes per episode. The pain is usually felt in the lower face and jaw, although sometimes it affects the area around the nose and above the eye. It is considered one of the most painful conditions known.
1. Summary about disease: Gastric antral vascular ectasia (GAVE) is a rare condition characterized by abnormal, dilated blood vessels in the antrum (lower part) of the stomach. These blood vessels can bleed, leading to chronic blood loss and anemia. GAVE is sometimes called "watermelon stomach" because the striped appearance of the dilated blood vessels resembles the markings on a watermelon.
Gastric cancer, also known as stomach cancer, is a disease in which cancer cells form in the lining of the stomach. It can develop in any part of the stomach and spread throughout the stomach to other organs, such as the liver, pancreas, esophagus, and intestines. It is often diagnosed at an advanced stage due to vague or absent early symptoms, making treatment more challenging.
Gastric lymphoma is a type of cancer that originates in the stomach's lymphatic tissue. It is relatively rare, representing a small percentage of all stomach cancers. The most common type is Non-Hodgkin lymphoma, specifically mucosa-associated lymphoid tissue (MALT) lymphoma. Early diagnosis and treatment can lead to favorable outcomes.
Gastric perforation is a hole that develops through the wall of the stomach. This allows stomach contents to leak into the abdominal cavity, leading to peritonitis (inflammation of the peritoneum), a severe and potentially life-threatening condition. It requires immediate medical attention.
Gastric volvulus is a condition where the stomach twists on itself, potentially leading to obstruction of the stomach outlet and/or strangulation of its blood supply. This can result in severe pain, vomiting, and if left untreated, can cause tissue death (necrosis) and be life-threatening. It is relatively rare.
Gastrinoma is a rare type of tumor, usually found in the pancreas or duodenum (the first part of the small intestine), that produces excessive amounts of gastrin. Gastrin is a hormone that stimulates the stomach to produce hydrochloric acid. The excessive gastrin leads to overproduction of stomach acid, causing peptic ulcers, gastroesophageal reflux disease (GERD), and other digestive problems. Gastrinomas are often cancerous and may spread to other parts of the body. They are a type of neuroendocrine tumor.
A gastrocolic fistula is an abnormal connection between the stomach and the colon. This allows the contents of the stomach to directly enter the colon, bypassing a significant portion of the small intestine. This can lead to various digestive problems and nutritional deficiencies.
A gastrocutaneous fistula is an abnormal connection between the stomach and the skin, allowing gastric contents to leak through the skin surface. It can be a debilitating condition leading to malnutrition, infection, and skin breakdown.
Gastroenteritis, commonly known as "stomach flu," is an inflammation of the stomach and intestines, typically caused by viral or bacterial infections. It leads to symptoms such as diarrhea, vomiting, and abdominal cramps. It is a common illness that can affect people of all ages.
Gastrointestinal (GI) carcinoid tumors are a type of neuroendocrine tumor (NET) that originates in the lining of the gastrointestinal tract. These tumors are slow-growing and can occur anywhere from the stomach to the rectum, but are most commonly found in the small intestine, rectum, and appendix. They develop from specialized cells called enterochromaffin cells, which produce hormones like serotonin. While some GI carcinoid tumors remain inactive, others secrete these hormones, leading to carcinoid syndrome.
Gastrointestinal amyloidosis occurs when abnormal proteins called amyloid build up in the walls of the gastrointestinal (GI) tract. This protein buildup can disrupt the normal structure and function of the digestive organs, leading to a variety of symptoms depending on the location and extent of the amyloid deposits. It is a rare and serious condition.
Gastrointestinal stromal tumors (GISTs) are rare tumors that arise in the gastrointestinal (GI) tract, most commonly in the stomach and small intestine. They originate from specialized cells called interstitial cells of Cajal (ICCs), which are part of the autonomic nervous system and regulate GI motility. GISTs can be benign or malignant, with the malignant potential determined by factors like tumor size, mitotic rate (how quickly cells are dividing), and location.
Gastroparesis is a condition that affects the normal movement of food from the stomach to the small intestine. The stomach empties too slowly, even though there is no blockage. This delayed emptying can cause various symptoms and affect digestion. It is often chronic, with symptoms that come and go.
Gastroschisis is a birth defect where a baby's intestines (and sometimes other organs like the stomach or liver) protrude outside of the body through a hole in the abdominal wall, usually to the right of the umbilical cord. The intestines are not covered by a protective sac, and are exposed to amniotic fluid during pregnancy. This can cause irritation and damage to the organs. Gastroschisis requires surgical repair shortly after birth.
Enlarged spleen (splenomegaly)
Enlarged liver (hepatomegaly)
Bone pain and fractures
Anemia (low red blood cell count)
Thrombocytopenia (low platelet count), leading to easy bruising and bleeding
Fatigue
Delayed growth and puberty (in children)
Neurological problems (in some types)
Gaucher disease is a rare, inherited metabolic disorder caused by a deficiency of the enzyme glucocerebrosidase (also known as acid beta-glucosidase). This enzyme is responsible for breaking down a fatty substance called glucocerebroside. When the enzyme is deficient, glucocerebroside accumulates in cells, particularly in the spleen, liver, and bone marrow. This accumulation leads to various symptoms and complications. There are different types of Gaucher disease, classified based on the presence and severity of neurological involvement.
Enlarged spleen (splenomegaly): This can cause abdominal pain, discomfort, and early satiety.
Enlarged liver (hepatomegaly): Similar to splenomegaly, this can cause abdominal discomfort.
Bone problems: Bone pain, fractures, thinning of bones (osteopenia), and bone crises (severe pain due to bone marrow infarction).
Anemia: Reduced red blood cell count, leading to fatigue and weakness.
Thrombocytopenia: Reduced platelet count, leading to easy bruising and bleeding.
Fatigue: Due to anemia and other complications.
Neurological problems (primarily in Types 2 and 3): These can include developmental delays, seizures, muscle spasms, eye movement abnormalities, and brain damage.
Lung disease: In some cases, glucocerebroside can accumulate in the lungs, leading to breathing difficulties.
Growth delays: Especially in children.
Gemignani syndrome is not a recognized or documented medical condition. There is no scientific literature or established medical database that refers to a "Gemignani syndrome." It is possible that the name is being used informally, is a misspelling, or refers to a very rare or localized condition that has not been widely published. Because of this lack of verifiable information, specific details about the disease cannot be provided.
Generalized Epilepsy with Febrile Seizures Plus (GEFS+) is a genetic epilepsy syndrome characterized by a spectrum of seizure types, ranging from simple febrile seizures (seizures triggered by fever) that extend beyond the typical age range (usually after age 5) to afebrile generalized tonic-clonic seizures, absence seizures, myoclonic seizures, atonic seizures, and even focal seizures. The severity and presentation of GEFS+ can vary widely, even within the same family.
Generalized pustular psoriasis (GPP) is a rare and severe form of psoriasis characterized by widespread eruptions of sterile pustules (small, pus-filled bumps) on inflamed skin. Unlike plaque psoriasis, which is more common, GPP often presents acutely and can be life-threatening due to systemic inflammation and complications. It is classified as an autoinflammatory disease. GPP can occur with or without a prior history of psoriasis.
Symptoms vary widely depending on the specific disorder exhibiting genetic anticipation. However, general categories include:
Neurological issues: Ataxia (loss of coordination), cognitive decline, dementia, seizures, involuntary movements (chorea, tremors), muscle weakness.
Physical abnormalities: Skeletal deformities, facial dysmorphia.
Psychiatric problems: Depression, anxiety, psychosis.
Cardiovascular problems: Cardiomyopathy, arrhythmias.
Other: Diabetes, endocrine disorders.
The key is that the symptoms tend to appear at a younger age and be more severe in later generations affected by the same disorder within a family.
Cystic Fibrosis (CF) is a genetic disorder that primarily affects the lungs, pancreas, liver, intestines, sinuses, and reproductive organs. It is characterized by the production of abnormally thick and sticky mucus that can clog the airways and digestive system, leading to chronic respiratory infections and digestive problems. The severity of CF varies widely from person to person due to the high number of different mutations that can cause the disease.
Genetic mosaicism is a condition where an individual has cells with different genetic makeups within their body. This means some cells have a different set of chromosomes or genes compared to other cells. It's not an inherited condition in the traditional sense, but rather a genetic change that occurs after fertilization, during cell division. The extent and location of the mosaicism can significantly impact the individual, ranging from no noticeable effects to significant health problems depending on which genes/chromosomes are affected and which tissues are involved.
Genitofemoral neuralgia is a nerve pain condition affecting the genitofemoral nerve, which provides sensation to the groin, scrotum (in men), and labia (in women), as well as the inner thigh. Damage to or irritation of this nerve causes pain and altered sensation in these areas.
Geriatric Failure to Thrive (GFTT) is a syndrome characterized by unintentional weight loss, decreased appetite, poor nutrition, inactivity, and often dehydration, depression, and impaired immune function in older adults. It's not a specific disease but a constellation of symptoms stemming from a complex interplay of physical, psychological, and social factors. It signifies a decline in overall health and well-being and predicts increased mortality and morbidity.
Gerstmann-Sträussler-Scheinker disease (GSS) is a very rare, inherited neurodegenerative disease affecting the central nervous system. It is classified as a prion disease, meaning it is caused by misfolded prion proteins that accumulate in the brain. GSS is typically characterized by progressive ataxia (loss of coordination), cognitive decline (dementia), and other neurological signs. It usually presents in adulthood, typically between the ages of 30 and 60, and progresses over several years. It is invariably fatal.
1. Summary about disease: Gestational hypertension is high blood pressure that develops during pregnancy in women who previously had normal blood pressure. It typically begins after 20 weeks of gestation. It is a type of hypertensive disorder of pregnancy that can lead to serious complications for both mother and baby if left untreated.
Giant cell tumor of bone (GCTB) is a relatively rare, typically benign (non-cancerous) tumor that arises most often near the ends of long bones, especially around the knee. It's characterized by the presence of multinucleated giant cells and mononuclear stromal cells. While generally benign, GCTBs can be locally aggressive, causing bone destruction and potentially leading to fractures or joint problems. In rare instances, they can metastasize (spread) to other parts of the body, most commonly the lungs.
Giant congenital melanocytic nevus (GCMN) is a rare skin condition characterized by an exceptionally large melanocytic nevus (mole) present at birth or appearing shortly after. These nevi are composed of melanocytes, the cells that produce melanin (skin pigment). GCMN have an increased risk of developing melanoma, a type of skin cancer.
Giardiasis is an intestinal infection caused by the microscopic parasite
Giardia duodenalis
(also known as
Giardia intestinalis
or
Giardia lamblia
). It is a common cause of diarrheal illness worldwide, often contracted through contaminated water, food, or person-to-person contact. While some individuals may carry the parasite without showing symptoms, others experience a range of gastrointestinal issues.
Gilles de la Tourette Syndrome (Tourette's or TS) is a neurological disorder characterized by repetitive, sudden, involuntary movements or vocalizations called tics. These tics can range from mild to severe, and their frequency and intensity can vary over time. TS is not a degenerative condition, and most people with TS have a normal life expectancy.
Gingival fibromatosis (GF), also known as hereditary gingival fibromatosis (HGF) or gingival hyperplasia, is a rare oral condition characterized by slow, progressive, benign, non-neoplastic, and often generalized enlargement of the gingiva. The overgrowth is due to an increase in the fibrous connective tissue component of the gingiva. This can lead to cosmetic problems, difficulties in chewing and speaking, and periodontal complications. GF can occur as an isolated condition or as part of a syndrome.
Gingivitis is a common and mild form of gum disease (periodontal disease) that causes irritation, redness, and swelling (inflammation) of the gingiva, which is the part of your gum around the base of your teeth. It's usually caused by poor oral hygiene, allowing plaque – a sticky film containing bacteria – to build up on teeth. Gingivitis is reversible with professional treatment and good oral home care. If left untreated, it can progress to periodontitis, a more serious form of gum disease that can lead to tooth loss.
Eye Opening Response (E):
4 - Spontaneous – open with blinking at baseline
3 - To verbal command, stimulus, or speech
2 - To pain only (not applied to face)
1 - No response
Verbal Response (V):
5 - Oriented
4 - Confused conversation, but able to answer questions
3 - Inappropriate words
2 - Incomprehensible speech
1 - No response
Motor Response (M):
6 - Obeys commands for movement
5 - Purposeful movement to painful stimulus
4 - Withdraws from pain
3 - Abnormal (spastic) flexion, also called decorticate posture
2 - Extension (rigid) response, also called decerebrate posture
1 - No motor response
Glaucoma is a group of eye diseases that damage the optic nerve, often caused by abnormally high pressure in your eye. This damage can lead to progressive, irreversible vision loss and blindness. Many forms of glaucoma have no warning signs. The effect is so gradual that you may not notice a change in vision until the condition is at an advanced stage.
Glanders is a highly contagious and often fatal infectious disease that primarily affects horses, mules, and donkeys. It can also infect humans and other animals, although this is less common. It is caused by the bacterium
Burkholderia mallei
. Glanders is considered a zoonotic disease, meaning it can be transmitted from animals to humans. The disease is characterized by the formation of nodular lesions in the lungs, skin, and mucous membranes. Historically, glanders was a significant concern, but it has been largely eradicated from many parts of the world.
Glaucoma is a group of eye diseases that damage the optic nerve, often caused by abnormally high pressure inside the eye. This damage can lead to progressive, irreversible vision loss and blindness. Many forms of glaucoma have no warning signs. The effect is so gradual that you may not notice a change in vision until the condition is at an advanced stage.
Glaucoma is a group of eye diseases that damage the optic nerve, often associated with increased intraocular pressure (IOP). This damage can lead to progressive, irreversible vision loss and blindness if left untreated. While elevated IOP is a significant risk factor, glaucoma can occur even with normal eye pressure. Early detection and treatment are crucial to slow or prevent vision loss.
Glaucoma is a group of eye diseases that damage the optic nerve, often caused by abnormally high pressure inside your eye (intraocular pressure). This damage can lead to progressive, irreversible vision loss and blindness if left untreated. There are several types of glaucoma, the most common being open-angle glaucoma. Early detection and treatment are crucial to slowing or preventing vision loss.
Glaucoma is a group of eye diseases that damage the optic nerve, which connects the eye to the brain. This damage often results from abnormally high pressure inside the eye. If left untreated, glaucoma can lead to progressive, irreversible vision loss and blindness. There are several types of glaucoma, with open-angle glaucoma being the most common. Early detection and treatment are crucial to preventing further vision loss.
Glioneuronal tumors are a rare group of brain tumors that contain both glial cells (supportive cells in the brain) and neurons (nerve cells). These tumors are typically slow-growing and often occur in children and young adults. They are generally considered benign (non-cancerous) or low-grade, but some can exhibit more aggressive behavior. Examples include gangliogliomas, dysembryoplastic neuroepithelial tumors (DNETs), and rosette-forming glioneuronal tumors (RGNTs). The specific behavior, treatment, and prognosis vary depending on the tumor type, location, and individual patient factors.
A glomus tumor is a rare, usually benign (non-cancerous) tumor that arises from glomus bodies. These specialized arteriovenous anastomoses (direct connections between arteries and veins) are involved in temperature regulation and blood flow control, particularly in the fingertips. While most commonly found under the fingernails, they can occur anywhere in the body where glomus bodies are present, including the skin, deeper tissues, and even internal organs, though these are far less common. The tumors are characterized by extreme sensitivity to temperature changes and pressure.
Glossopharyngeal neuralgia (GPN) is a rare neurological disorder characterized by recurring episodes of severe, stabbing pain in the tongue, throat, ear, and tonsils. It is caused by irritation or compression of the glossopharyngeal nerve (cranial nerve IX), which is responsible for sensation and function in these areas. GPN is similar to trigeminal neuralgia but affects a different nerve and area of the face.
Glutaric acidemia type 1 (GA-1) is a rare inherited metabolic disorder that prevents the body from properly processing certain amino acids, specifically lysine, hydroxylysine, and tryptophan. This leads to a buildup of harmful substances in the body, particularly in the brain, which can cause neurological damage and developmental problems. Early diagnosis and treatment are crucial to prevent or minimize these complications.
Glutaric acidemia type 2 (GA2), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare inherited metabolic disorder that prevents the body from properly breaking down fats, proteins, and carbohydrates for energy. This can lead to a buildup of harmful substances, particularly organic acids, in the body. GA2 exists in varying degrees of severity, ranging from a severe neonatal form to a milder adult-onset form.
Gluten ataxia is an autoimmune disorder affecting the cerebellum, the part of the brain that controls coordination and balance. It is triggered by the ingestion of gluten, a protein found in wheat, barley, and rye. The immune response to gluten damages the cerebellum, leading to progressive problems with balance, coordination, and other neurological issues.
Gluten enteropathy, also known as celiac disease, is an autoimmune disorder triggered by the ingestion of gluten, a protein found in wheat, barley, and rye. This ingestion leads to damage in the small intestine, specifically the villi, which are responsible for nutrient absorption. This damage interferes with the body's ability to absorb nutrients from food, leading to various symptoms and potential long-term health complications.
Glycogen Storage Disease Type 0 (GSD 0) is a rare metabolic disorder affecting how the body produces and stores glycogen, the primary form of energy storage in the liver and muscles. Unlike other glycogen storage diseases that involve the breakdown of glycogen, GSD 0 involves a defect in glycogen synthase, the enzyme responsible for
synthesizing
glycogen. This leads to a deficiency in glycogen stores, especially in the liver. There are two types, GSD0a and GSD0b. GSD0a is liver specific, and GSD0b also involves muscle.
Glycogen storage disease type I (GSD I), also known as Von Gierke disease, is a rare genetic metabolic disorder caused by a deficiency in the enzyme glucose-6-phosphatase (G6Pase) or its transporter. This enzyme is crucial for releasing glucose from glycogen in the liver, kidneys, and intestines. The deficiency prevents the breakdown of glycogen into glucose, leading to an accumulation of glycogen in these organs and a buildup of other metabolites. This results in hypoglycemia (low blood sugar) and other metabolic abnormalities.
Glycogen storage disease type II (GSD II), also known as Pompe disease, is a rare, inherited metabolic disorder. It is caused by a deficiency or absence of the lysosomal enzyme acid alpha-glucosidase (GAA). This enzyme is essential for breaking down glycogen, a stored form of sugar, within the lysosomes of cells. Without sufficient GAA, glycogen accumulates in various tissues and organs, especially muscles, leading to progressive muscle weakness (myopathy) and organ damage. Pompe disease can manifest at different ages with varying degrees of severity.
Glycogen storage disease type III (GSD III), also known as Cori disease or Forbes disease, is a rare genetic disorder that affects the way the body breaks down glycogen. Glycogen is a stored form of glucose (sugar), which the body uses for energy. In GSD III, a deficiency in the enzyme amylo-1,6-glucosidase (debrancher enzyme) prevents the complete breakdown of glycogen. This leads to an accumulation of abnormal glycogen in the liver, muscles, and sometimes other tissues. The severity and specific symptoms vary considerably among affected individuals.
Glycogen storage disease type IV (GSD IV), also known as Andersen disease, is a rare, inherited metabolic disorder caused by a deficiency of the glycogen branching enzyme. This enzyme is crucial for creating the branched structure of glycogen, which is the storage form of glucose. In GSD IV, abnormally structured glycogen accumulates in various tissues, especially the liver, muscle, and nervous system, leading to progressive organ damage. This damage can cause a range of symptoms, depending on the affected tissues.
Glycogen storage disease type V (GSD V), also known as McArdle disease, is a rare genetic metabolic disorder caused by a deficiency of muscle glycogen phosphorylase (myophosphorylase). This enzyme is essential for breaking down glycogen (stored glucose) in muscle tissue to provide energy during exercise. As a result, individuals with McArdle disease experience muscle pain, fatigue, and cramps during physical activity. The condition is typically not life-threatening, but it can significantly impact an individual's quality of life and ability to engage in strenuous activities.
Glycogen storage disease type VI (GSD VI), also known as Hers disease, is a genetic disorder that affects the liver's ability to break down glycogen. Glycogen is the stored form of glucose (sugar), which the body uses for energy. In GSD VI, a deficiency in the enzyme liver glycogen phosphorylase prevents the liver from properly releasing glucose into the bloodstream when needed, leading to a buildup of glycogen in the liver. It is typically a milder form of glycogen storage disease compared to other types.
Glycogen Storage Disease Type VII (GSD VII), also known as Tarui disease, is a rare genetic metabolic disorder caused by a deficiency of the enzyme phosphofructokinase (PFK). PFK is crucial for glycolysis, the process that breaks down glucose for energy. This deficiency primarily affects muscle tissue and red blood cells, leading to muscle cramps, fatigue, and hemolytic anemia.
Glycogen storage disease type IX (GSD IX) is a genetic metabolic disorder caused by a deficiency in the enzyme phosphorylase kinase (PhK). PhK plays a crucial role in breaking down glycogen (stored glucose) into glucose, which the body uses for energy. The deficiency impairs the liver's ability to release glucose, leading to an accumulation of glycogen in the liver and, sometimes, in muscles. GSD IX is generally milder than other types of glycogen storage diseases, with many individuals experiencing improvement as they age.
Glycolipid lipidosis, also known as sphingolipidoses, are a group of inherited metabolic disorders characterized by the abnormal accumulation of glycolipids (a type of fat molecule) in cells, particularly in the brain, spleen, liver, and bone marrow. This accumulation is due to a deficiency or absence of specific lysosomal enzymes needed to break down these glycolipids. The specific type of glycolipid that accumulates and the enzyme that is deficient vary depending on the specific sphingolipidosis. Examples include Gaucher disease, Tay-Sachs disease, Fabry disease, and Niemann-Pick disease.
Glycosuria refers to the presence of glucose (sugar) in the urine. Normally, the kidneys filter glucose from the blood and reabsorb it back into the bloodstream. When blood glucose levels are too high, or when the kidneys are not functioning properly, glucose can spill over into the urine, leading to glycosuria. It's often a sign of an underlying condition, most commonly diabetes.
Goldbloom syndrome is an extremely rare genetic disorder characterized by a combination of ectodermal dysplasia (affecting skin, hair, and nails) and neurological abnormalities. Specifically, it often involves hypohidrotic ectodermal dysplasia (reduced or absent sweating), intellectual disability, seizures, and distinctive facial features. Due to its rarity, information is very limited, and the precise genetic cause has not been definitively identified in all reported cases.
Goldenhar syndrome (also known as oculo-auriculo-vertebral spectrum or OAV) is a rare congenital condition characterized by abnormal development of the face, particularly the ears, eyes, and vertebrae. The severity of symptoms varies greatly from person to person. It typically affects one side of the face more than the other.
Glucagonoma is a rare pancreatic neuroendocrine tumor (PNET) that secretes excessive amounts of glucagon, a hormone that raises blood glucose levels. This overproduction of glucagon leads to a characteristic set of symptoms, most notably a skin rash called necrolytic migratory erythema (NME), diabetes, and weight loss. Glucagonomas are often malignant and can spread to other parts of the body.
Gonadal dysgenesis refers to a condition where the gonads (ovaries in females and testes in males) do not develop properly. This can lead to a variety of issues related to sexual development and reproductive function. The most common form of gonadal dysgenesis is Turner syndrome, affecting individuals with female chromosomes (typically XX). Other forms can involve different chromosomal abnormalities or genetic mutations. The degree of gonadal dysfunction can vary, ranging from complete absence of gonads to partially developed or non-functional gonads. This condition can have significant impacts on hormone production, sexual characteristics, and fertility.
Gonadal mosaicism is a genetic phenomenon where some, but not all, of the cells in the gonads (ovaries or testes) of an individual carry a mutation. The rest of the cells are genetically normal. This means the individual does not necessarily express the mutation in their own body (i.e., they are not affected by the genetic disease associated with the mutation), but they have a risk of passing the mutation on to their offspring during reproduction. The proportion of mutated cells within the gonads can vary significantly. This makes the prediction of recurrence risk in future pregnancies complex. The individual themself doesn't necessarily exhibit the associated disease, but their children might, depending on whether they inherit the mutated gene and whether it causes disease.
Gonadoblastoma is a rare, benign germ cell tumor that typically occurs in dysgenetic gonads (abnormally developed sex glands). It is often found in individuals with disorders of sex development (DSD), particularly those with a Y chromosome or Y chromosome material. While the tumor itself is generally benign, it has a high propensity to develop into malignant germ cell tumors, most commonly dysgerminoma (in females) or seminoma (in males). Therefore, early detection and removal are crucial to prevent malignancy.
Goodpasture syndrome is a rare autoimmune disorder characterized by the body's immune system mistakenly attacking the lungs and kidneys. Specifically, the immune system produces antibodies that target a protein called collagen, which is a major component of the basement membranes in the lungs' air sacs (alveoli) and the kidney's filtering units (glomeruli). This attack leads to inflammation and damage in these organs, potentially causing respiratory failure and kidney failure if left untreated. It is considered a medical emergency that requires prompt diagnosis and treatment.
Goodpasture syndrome is a rare autoimmune disorder that affects the lungs and kidneys. The immune system mistakenly attacks these organs, specifically targeting a protein called type IV collagen, which is a major component of the basement membranes in the glomeruli of the kidneys and the alveoli of the lungs. This attack leads to inflammation and damage, potentially causing glomerulonephritis (kidney inflammation) and pulmonary hemorrhage (bleeding in the lungs). Early diagnosis and treatment are crucial to prevent permanent kidney damage and respiratory failure.
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare genetic disorder that affects many parts of the body and increases the risk of developing certain cancers, particularly basal cell carcinoma (BCC). It is characterized by a combination of skeletal abnormalities, distinctive facial features, and tumors, both cancerous and non-cancerous. Individuals with Gorlin syndrome also have an increased sensitivity to radiation.
Gout is a form of inflammatory arthritis caused by a buildup of uric acid crystals in the joints. This buildup leads to sudden, severe attacks of pain, swelling, redness, and tenderness in one or more joints, most often in the big toe. Gout can be acute, with sudden attacks, or chronic, with ongoing pain and joint damage.
Intense joint pain: Gout typically affects the big toe, but can occur in any joint, including ankles, knees, elbows, wrists, and fingers. The pain is often most severe within the first 4-12 hours after it begins.
Lingering discomfort: After the most severe pain subsides, some joint discomfort may last from a few days to a few weeks. Later attacks are likely to last longer and affect more joints.
Inflammation and redness: The affected joint(s) become swollen, tender, warm and red.
Limited range of motion: Decreased joint mobility may occur.
Gouty arthritis, commonly known as gout, is a form of inflammatory arthritis caused by a buildup of uric acid crystals in the joints. This buildup leads to sudden, severe attacks of pain, redness, and swelling in the affected joints, most often the big toe. Gout is a chronic condition that can be managed with medication and lifestyle changes.
Graft-versus-host disease (GVHD) is a condition that can occur after a transplant of cells from one person (the donor) to another (the recipient). In GVHD, the donated cells, which are supposed to rebuild the recipient's immune system, instead attack the recipient's own tissues and organs. This happens because the donated cells recognize the recipient's cells as foreign. GVHD can range from mild to severe and can affect various parts of the body.
Gram-negative pneumonia is a lung infection caused by Gram-negative bacteria. It is often more severe and difficult to treat than pneumonia caused by other types of bacteria due to the bacteria's structure and antibiotic resistance. Common causative agents include Klebsiella pneumoniae, Pseudomonas aeruginosa, Escherichia coli (E. coli), and Acinetobacter species. It can occur in hospital settings (hospital-acquired pneumonia or HAP) or in the community (community-acquired pneumonia or CAP), though HAP is more common with Gram-negative bacteria.
Gram-positive pneumonia refers to pneumonia caused by Gram-positive bacteria. Pneumonia is an infection that inflames the air sacs in one or both lungs. The air sacs may fill with fluid or pus, causing cough with phlegm or pus, fever, chills, and difficulty breathing. Common Gram-positive bacteria responsible include
Streptococcus pneumoniae
(the most common cause of bacterial pneumonia),
Staphylococcus aureus
, and, less frequently,
Bacillus anthracis
(anthrax pneumonia). The severity can range from mild to life-threatening.
Granuloma annulare (GA) is a chronic skin condition characterized by raised, reddish or skin-colored bumps (papules) that form a ring-like pattern on the skin. It is generally harmless and doesn't usually cause any symptoms, although sometimes the affected areas can be itchy. While the exact cause is unknown, it's thought to be related to a delayed-type hypersensitivity reaction. It is not infectious.
Granulomatosis with polyangiitis (GPA), formerly known as Wegener's granulomatosis, is a rare autoimmune disorder that causes inflammation of the blood vessels (vasculitis). This inflammation can restrict blood flow to various organs, most commonly the sinuses, lungs, and kidneys. GPA can be life-threatening if left untreated.
Adult Granulosa Cell Tumors (AGCTs):
Abnormal vaginal bleeding (most common)
Postmenopausal bleeding
Enlarged ovaries or abdominal swelling
Uterine hyperplasia or endometrial cancer (due to prolonged estrogen exposure)
Breast tenderness
Juvenile Granulosa Cell Tumors (JGCTs):
Precocious puberty (early development of secondary sexual characteristics)
Vaginal bleeding
Breast development
Enlarged ovaries or abdominal swelling
Graves ophthalmopathy (also known as thyroid eye disease or Graves' orbitopathy) is an autoimmune condition associated with Graves' disease (an autoimmune disorder causing hyperthyroidism). It causes inflammation and swelling of the muscles and tissues around the eyes. This can lead to a range of symptoms, from mild irritation to vision-threatening complications. It is important to note that even when thyroid levels are controlled, the eye disease can progress or persist.
Graves' disease is an autoimmune disorder that causes hyperthyroidism, or overactive thyroid. The thyroid gland produces hormones that regulate metabolism. In Graves' disease, the immune system mistakenly attacks the thyroid gland, causing it to produce more thyroid hormone than the body needs. This overproduction leads to a variety of symptoms that affect multiple body systems.
Gonococcemia, also known as Disseminated Gonococcal Infection (DGI), is a systemic infection that occurs when the bacterium
Neisseria gonorrhoeae
(the cause of gonorrhea) spreads from its initial site of infection (usually the genitals, rectum, or throat) through the bloodstream to other parts of the body. This can lead to a variety of complications, including skin lesions, arthritis, and rarely, endocarditis or meningitis.
Graves' dermopathy, also known as pretibial myxedema, is a skin condition that primarily affects the shins, though it can also occur on the feet or other areas. It's associated with Graves' disease, an autoimmune disorder that causes hyperthyroidism (overactive thyroid). It's characterized by thickened, reddened skin, often with a peau d'orange (orange peel) texture. It is relatively rare, occurring in a minority of people with Graves' disease.
Growth failure, also known as failure to thrive (FTT), is a term used to describe a condition where a child is not growing or gaining weight as expected for their age and sex. This can involve inadequate physical growth (height and weight) or developmental delays. It's not a specific disease but rather a sign that a child's nutritional needs are not being met.
1. Summary about disease Guanfacine is a medication primarily used to treat attention-deficit/hyperactivity disorder (ADHD) and high blood pressure. An overdose of guanfacine can lead to a significant drop in blood pressure (hypotension), slowed heart rate (bradycardia), and central nervous system depression. The severity of symptoms can vary depending on the amount of guanfacine ingested, the individual's health status, and other factors.
A gum boil, also known as a parulis, is a pus-filled bump that forms on the gums. It's a sign of an underlying infection, usually related to a tooth or the surrounding tissues. The boil represents the body's attempt to drain the infection. It's crucial to address the root cause of the infection rather than just treating the boil itself.
A gunshot wound (GSW) is a penetrating or blunt injury resulting from the discharge of a firearm. The severity and consequences of a GSW depend on various factors, including the type of firearm, bullet characteristics (size, velocity, and construction), distance to the target, trajectory, and the specific body parts affected. GSWs can cause significant tissue damage, hemorrhage, infection, and long-term disability or death.
Gynecomastia is a condition in males characterized by the enlargement of breast tissue. It can affect one or both breasts and is caused by an imbalance in the hormones estrogen and testosterone. It is often, but not always, benign.
Gitelman syndrome (GS) is a rare inherited kidney disorder characterized by electrolyte imbalances, specifically low levels of potassium (hypokalemia) and magnesium (hypomagnesemia) in the blood, along with low blood pressure and elevated blood pH (metabolic alkalosis). It affects the kidneys' ability to reabsorb certain electrolytes, leading to their loss in urine. It is usually diagnosed in adolescence or adulthood.
1. Summary about disease: Gardner-Diamond syndrome (GDS), also known as autoerythrocyte sensitization syndrome or painful bruising syndrome, is a rare, chronic condition characterized by painful bruising, typically spontaneous, caused by an autoimmune reaction to the individual's own red blood cells. It predominantly affects women with underlying psychiatric conditions or a history of emotional stress.
Gastritis cystica profunda (GCP) is a rare benign condition of the stomach characterized by cystic dilatations of gastric glands that extend deep into the submucosa or even the muscularis propria layer of the stomach wall. It's often associated with previous gastric surgery (especially gastrojejunostomy or partial gastrectomy), chronic inflammation, or gastric ulcers. GCP lesions can sometimes mimic malignant tumors endoscopically and radiologically, making accurate diagnosis crucial.
Gastrointestinal (GI) duplication is a rare congenital anomaly where a cyst or tubular structure is present alongside a portion of the normal gastrointestinal tract. These duplications can occur anywhere from the esophagus to the anus, but are most common in the ileum. They may or may not communicate with the adjacent bowel lumen. The lining of the duplication may or may not resemble that of the adjacent GI tract. The presence of gastric mucosa in the duplication can lead to ulceration, bleeding, and pain.
Generalized lipodystrophy (GL) is a rare disorder characterized by the selective loss of adipose tissue (fat) from the entire body or nearly the entire body. This fat loss leads to metabolic abnormalities, including insulin resistance, diabetes mellitus, hypertriglyceridemia (high levels of triglycerides in the blood), and hepatic steatosis (fatty liver). There are both genetic (inherited) and acquired forms of generalized lipodystrophy.
Genetic prion diseases are a group of rare, fatal neurodegenerative disorders caused by inherited mutations in the prion protein gene (PRNP). These mutations cause the normal prion protein (PrPC) to misfold into an abnormal, infectious form (PrPSc), leading to the accumulation of PrPSc in the brain, causing progressive brain damage and characteristic neurological symptoms. Genetic prion diseases include familial Creutzfeldt-Jakob disease (fCJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal familial insomnia (FFI).
Geotrichosis is a relatively uncommon opportunistic infection caused by the fungus
Geotrichum candidum
.
Geotrichum candidum
is a ubiquitous fungus found in soil, air, water, and food. It can also be part of the normal human flora in the skin, mouth, and digestive tract. Infection typically occurs in individuals with weakened immune systems or underlying health conditions. The disease can manifest in various forms, affecting the mouth (oral thrush), lungs (pulmonary geotrichosis), skin (cutaneous geotrichosis), or gastrointestinal tract (gastrointestinal geotrichosis). In rare cases, disseminated infection can occur.
Giant cell myocarditis (GCM) is a rare, aggressive form of inflammatory heart disease characterized by the presence of multinucleated giant cells and widespread myocardial necrosis on heart biopsy. It leads to rapidly progressive heart failure, arrhythmias, and often death or the need for heart transplantation. It is distinct from other forms of myocarditis and requires prompt diagnosis and aggressive treatment.
: Glomuvenous malformations (GVMs) are rare, benign vascular malformations involving abnormal clusters of glomus cells, smooth muscle cells, and vascular channels. They typically present as bluish or purplish, often painful, nodules or plaques in the skin, most commonly on the extremities. GVMs are usually congenital, meaning they are present at birth or develop shortly thereafter. They can be solitary or multiple and vary in size. Unlike some other vascular malformations, GVMs are typically painful, especially with pressure or temperature changes.
Glucocorticoid-remediable aldosteronism (GRA), also known as familial hyperaldosteronism type I, is a rare inherited form of high blood pressure (hypertension) caused by the adrenal glands producing too much aldosterone. This excess aldosterone leads to sodium retention, potassium loss, and subsequently, elevated blood pressure. It's "glucocorticoid-remediable" because the excess aldosterone production can be suppressed by taking glucocorticoids (like dexamethasone or prednisone).
Glycine encephalopathy (GE), also known as nonketotic hyperglycinemia (NKH), is a rare, inherited metabolic disorder that affects the brain and nervous system. It is characterized by a deficiency in the enzyme system that breaks down glycine, an amino acid. This deficiency leads to an accumulation of glycine in the body, especially in the brain, causing severe neurological problems. GE presents in varying degrees of severity, with some individuals experiencing profound developmental delays and seizures from birth, while others have a milder, later-onset form.
Glycogen Storage Disease Type XI (GSD XI), also known as Fanconi-Bickel Syndrome (FBS), is a rare, autosomal recessive disorder affecting carbohydrate metabolism. It's characterized by impaired glucose transport across cell membranes, primarily affecting the liver, kidneys, and intestines. This leads to glycogen accumulation in the liver and kidneys, glucose and galactose in urine (glucosuria and galactosuria), rickets, and growth retardation.
Goltz syndrome, also known as focal dermal hypoplasia, is a rare genetic disorder that primarily affects the skin, but can also involve the eyes, skeleton, teeth, and gastrointestinal system. It's characterized by areas of thin skin (dermal hypoplasia), linear skin pigment changes, skeletal abnormalities, and papillomas (wart-like growths) of the skin or mucous membranes. The severity of symptoms varies greatly among affected individuals.
Guillain-Barré Syndrome (GBS) is a rare autoimmune disorder in which the body's immune system attacks its own nerves. This leads to muscle weakness, loss of reflexes, and sometimes paralysis. GBS can range from a very mild case with brief weakness to a devastating paralysis that leaves the person unable to breathe independently. Most people recover fully, but some have permanent nerve damage.
Gonadal agenesis, also known as gonadal aplasia, refers to the absence of one or both gonads (ovaries in females or testes in males) at birth. This condition can lead to various developmental and hormonal issues, depending on whether it's unilateral (one gonad missing) or bilateral (both gonads missing) and the genetic sex of the individual. The impact varies significantly based on whether the individual has XY or XX chromosomes.
Granulomatous mastitis (GM) is a rare, benign (non-cancerous) inflammatory breast condition characterized by granulomas, which are collections of immune cells that form in response to inflammation. It primarily affects women of reproductive age, especially those who have recently been pregnant or are breastfeeding. While the exact cause is often unknown, it's thought to be related to autoimmune responses or reactions to breast duct secretions.
Gray baby syndrome is a rare but serious side effect that can occur in newborns, particularly premature infants, as a result of the accumulation of the antibiotic chloramphenicol in their bodies. Infants lack the liver enzymes necessary to properly metabolize the drug, leading to toxic levels and a cascade of complications.
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