Diseases
Glaucoma- primary infantile type 3A
A recessively inherited form of open-angle glaucoma caused by a genetic mutation on chromosome 2p22-p21.
Glioblastoma
Glioblastoma, also known as glioblastoma multiforme (GBM) and grade IV astrocytoma, is the most common and most aggressive cancer that begins within the brain. Signs and symptoms are initially non-specific. They may include headaches, personality changes, nausea, and symptoms similar to that of a stroke. Worsening of symptoms is often rapid. This can progress to unconsciousness.
The cause of most cases is unclear. Uncommon risk factors include genetic disorders such as neurofibromatosis and Li Fraumeni syndrome and previous radiation therapy. Glioblastomas represent 15% of brain tumors. They can either start from normal brain cells or develop from an already existing low-grade astrocytoma. The diagnosis is typically made by a combination of CT scan, MRI scan, and tissue biopsy.
There is no clear way to prevent the disease. Typically treatment involves surgery after which chemotherapy and radiation therapy is used. The medication temozolomide is frequently used as part of chemotherapy. High dose steroids may be used to help reduce swelling and decrease symptoms. It is unclear if trying to remove all or simply most of the cancer is better.
Despite maximum treatment, the cancer usually recurs. The most common length of survival following diagnosis is 12 to 15 months with less than 3% to 5% of people surviving greater than five years. Without treatment survival is typically 3 months. About 3 per 100,000 people develop the disease a year. It most often begins around 64 years of age and occurs more commonly in males than females. Immunotherapy is being studied in glioblastoma with promising results.
Glioblastoma multiforme
Glioblastoma multiforme (GBM), is the most common and most aggressive malignant primary brain tumor. It involves glial cells and accounting for 52% of all brain tissue tumor cases and 20% of all tumors inside the skull. Glioblastomas are often very aggressive and grow into surrounding brain tissue. Signs and symptoms, such as headache, nausea, vomiting and/or drowsiness, may develop when the tumor begins to put excess pressure on the brain. Affected people may also experience other features depending on the size and location of the tumor. In most cases, the exact underlying cause is unknown; however, they can rarely occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. There is currently no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy.
Glioma
Glioma refers to a type of brain tumor that develops from the glial cells, which are specialized cells that surround and support neurons (nerve cells) in the brain. It is generally classified based on which type of glial cell is involved in the tumor:
- Astocytoma - tumors that develop from star-shaped glial cells called astrocytes
- Ependymomas - tumors that arise from ependymal cells that line the ventricles of the brain and the center of the spinal cord
- Oligodendrogliomas - tumors that affect the oligodendrocytes
Gliomas can affect your brain function and be life-threatening depending on their location and rate of growth. Gliomas are one of the most common types of primary brain tumors.
The type of glioma you have helps determine your treatment and your prognosis. In general, glioma treatment options include surgery, radiation therapy, chemotherapy, targeted therapy.
Gliomatosis cerebri
Gliomatosis cerebri (infiltrative diffuse astrocytosis) is a rare primary brain tumor. It is commonly characterized by diffuse infiltration of the brain with neoplastic glial cells that affect various areas of the cerebral lobes
Gliosarcoma
Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components. It is estimated that approximately 2.1% of all glioblastomas are gliosarcomas. Although most gliomas rarely show metastases outside the cerebrum, gliosarcomas have a propensity to do so, most commonly spreading through the blood to the lungs, and also liver and lymph nodes.
Global disaccharide intolerance
an inherited disorder due to a defect in the degradation of lysine, characterized by vomiting, rigidity, and coma, and high levels of ammonia, lysine, and arginine in the blood.
glomangiomatosis
aka glomulovenous malformation
Glomerulonephritis
Glomerulonephritis, is a term used to refer to several kidney diseases (usually affecting both kidneys). Many of the diseases are characterised by inflammation either of the glomeruli or small blood vessels in the kidneys, hence the name, but not all diseases necessarily have an inflammatory component.
As it is not strictly a single disease, its presentation depends on the specific disease entity: it may present with isolated hematuria and/or proteinuria (blood or protein in the urine); or as a nephrotic syndrome, a nephritic syndrome, acute kidney injury, or chronic kidney disease.
Glomerulonephritis sparse hair telangiectases
A rare syndrome characterized by sparse hair, kidney disease and enlarged skin blood vessels (telangiectasia).
Glomerulopathy with fibronectin deposits
An inherited form of kidney disease.
Glomus tympanicum
Glomus tympanicum: A rare, usually benign tumor found behind the ear drum. The tumor develops from glomus cells which are located along blood vessels involved in automatic body activities such as regulation of blood pressure and blood flow.
Glomus vagale tumors
Glomus vagale tumors: A rare, usually benign tumor that tends to occur mainly in the skin and soft tissues of lower parts of limbs and under the nails but may also rarely occur in other parts of the body including organs. Symptoms depend on the location, size and malignancy of the tumor.
Glomuvenous malformation
Glomuvenous malformation (GVM), also known as "multiple glomus tumors" or "glomangioma", is a localized bluish-purple cutaneous vascular lesion, histologically consisting of distended venous channels with flattened endothelium surrounded by variable number of maldifferentiated smooth muscle-like "glomus cells" in the wall. GVM account for 5% of venous anomalies referred to centers for vascular anomalies.
Source: Atlas of Genetics and Cytogenetics in Oncology and Haematology
Gloomy face syndrome
Gloomy face syndrome: A rare genetic disorder characterized primarily by dwarfism and a gloomy facial appearance.
Glossodynia
Glossodynia: A rare condition where there is a burning sensation in the mouth and tongue.
Glossopalatine ankylosis micrognathia ear anomalies
Glossopalatine ankylosis - micrognathia - ear anomalies: A very rare syndrome characterized mainly by a small jaw, ear abnormalities and abnormal attachment of back of tongue (glossopalatine ankylosis).
Glossopharyngeal neuralgia
Glossopharyngeal neuralgia: A condition which is characterized by sever pain that originates on the side of the throat and extends to the ear.
Glucagonoma
Glucagonoma is a rare type of endocrine pancreatic tumor. This means it is a cancer of the glandular endocrine cells of the pancreas rather than the exocrine digestion-related pancreas cells. A "glucagonoma" is a cancer that produces too much production of a hormone called glucagon, which does reduce insulin production. Hence, glucagonoma can interfere with insulin and can give the appearance of diabetes mellitus. However, the effects of too much glucagon are not identical to having too little insulin. Ganda [1997] reports that 70-80% of glucagonoma patients have glucose intolerance. However, most are mild to moderate imbalances, making the symptoms similar to IGT or mild Type 2 diabetes.
Glucagonoma syndrome
Glucagonoma syndrome: A rare condition characterized by a tumor which secretes glucagon and a characteristic spreading rash, diabetes mellitus and various other symptoms.
Glucocorticoid deficiency- familial
Glucocorticoid deficiency, familial: A rare inherited disorder where the adrenals don't respond to ACTH resulting in glucocorticoid deficiency.
Glucocorticoid resistance
Glucocorticoid resistance (medical condition): A rare condition where all or parts of the body are unable to respond to glucocorticoids. Symptoms depend on the level or resistance.
Glucocorticoid sensitive hypertension
Glucocorticoid sensitive hypertension (medical condition): A very rare inherited genetic involving excessive aldosterone levels which usually causes high blood pressure. The severity of the disorder is greatly variable.
Glucose 6 phosphate dehydrogenase deficiency
Glucose Transporter Type 1 Deficiency Syndrome
Glucose transporter type 1 deficiency syndrome also called Glut-1 Deficiency Syndrome, De Vivo Disease, Glucose Transporter Protein Syndrome, Glut1-DS, Glucose transport defect- blood-brain barrier, is a rare genetic metabolic disorder characterized by deficiency of a protein that is required for glucose (a simple sugar) to cross the blood-brain barrier. The most common symptom is seizures (epilepsy), which usually begin within the first few months of life. However, the symptoms and severity of Glut1 deficiency syndrome can vary substantially from one person to another. For example, some affected individuals may not develop epilepsy. Additional symptoms that can occur include movement disorders, developmental delays, and varying degrees of cognitive impairment and speech and language abnormalities. Glut1 deficiency syndrome is caused by mutations in the SLC2A1 gene and is inherited as an autosomal dominant trait. Rarely, the condition also may be inherited as an autosomal recessive trait. Glut1 deficiency syndrome does not respond to traditional epilepsy treatments (e.g., anti-seizure medications), but has been successfully treated with the ketogenic diet.
Glucose transporter type1 (GLUT-1) deficiency
Glucose-6-phosphate translocase deficiency
Glucose-6-phosphate translocase deficiency (medical condition): An inherited metabolic disorder where a deficiency of the enzyme glucose-6-phosphatase prevents glycogen being turned into glucose leading to a buildup of glycogen in the liver and kidneys
Glucose-galactose malabsorption
Glucose-galactose malabsorption: An inherited metabolic disorder where the small intestine is unable to absorb and transport glucose and galactose that is consumed in the diet due to a lack of intestinal monosaccharidase
Glucosephosphate isomerase deficiency
Glucosephosphate isomerase deficiency: A rare inherited condition where a lack of the enzyme glucosephosphate isomerase causes red blood cells to be destroyed prematurely (hemolytic anemia).