Diseases

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

G6PD deficiency (favism after the fava bean, G6PD deficiency) is an X-linked recessive, therefore, symptomatic patients are almost exclusively male. Homozygous females have been described (double X deficiency) almost as sensitive as a male. This genetic condition predisposes to hemolysis (spontaneous destruction of red blood cells) and resultant jaundice in response to a number of triggers, such as certain foods, illness or medication.

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-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).

Glut2 deficiency

Glut2 deficiency (medical condition): A rare inherited disorder where the impaired metabolism of carbohydrates results in a build-up of glycogen in the liver.

Glutamate decarboxylase deficiency

Glutamate decarboxylase deficiency: A rare disorder of amino acid metabolism characterized by a deficiency of the enzyme called glutamate decarboxylase which causes seizures that will only respond to pyridoxine (vitamin B6).

Glutamate formiminotransferase deficiency

Glutamate formiminotransferase deficiency is an inherited metabolic disorder that affects physical and mental development. There are two forms of this condition, a mild form and a sever form.

People with the mild form have minor delays in physical and mental development and may have mild intellectual disability. They also have unusually high levels of a molecule called formiminoglutamate (FIGLU) in their urine.

Individuals with the severe form have profound intellectual disability, delayed development of motor skills (sitting, standing, and walking) and megaloblastic anemia. In addition to FIGLU in their urine, they have elevated amounts of certain B vitamins (called folates) in their blood.

The severe form of glutamate formiminotransferase deficiency is also characterized by megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The symptoms of this blood disorder may include decreased appetite, lack of energy, headaches, pale skin, and tingling or numbness in the hands and feet.

Glutamate formiminotransferase deficiency is a rare disorder; approximately 20 affected individuals have been identified. Of these, about one-quarter have the severe form of the disorder. Everyone reported with the severe form has been of Japanese origin. The remaining individuals, who come from a variety of ethnic backgrounds, are affected by the mild form of the condition.

Glutamate-aspartate transport defect

Glutamate and aspartate transport defect (medical condition): A rare metabolic syndrome involving a defect in the transport of certain amino acids (glutamate, aspartate) and resulting in high levels of dicarboxylic amino acids in the urine. Often no observable symptoms occur.

Glutamine deficiency- congenital

Glutamine deficiency, congenital: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in infant death within weeks of birth.

Glutamine deficiency- congenital

Glutamine deficiency, congenital: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in infant death within weeks of birth.

Glutaric aciduria 1

Glutaric acidemia type 1 (or "Glutaric Aciduria", "GA1", or "GAT1") is an inherited disorder in which the body is unable to break down completely the amino acids lysine, hydroxylysine and tryptophan. Excessive levels of their intermediate breakdown products (glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid, glutaconic acid) can accumulate and cause damage to the brain (and also other organs[1]), but particularly the basal ganglia, which are regions that help regulate movement. GA1 causes secondary carnitine deficiency, as glutaric acid, like other organic acids, is detoxified by carnitine. Mental retardation may also occur.

Glutaric aciduria 2

Glutaric aciduria type II: A rare disorder of amino acid metabolism characterized by a defect in the enzyme ETF (electron transfer flavenoid) or ETF dehydrogenase. The condition causes variable symptoms.

Glutathione synthetase deficiency

Glutathione Synthetase Deficiency: An inborn error of metabolism where insufficient glutathione is produced. Glutathione is an antioxidant which helps destroy unstable molecules that can cause damage to cells and helps develop certain cell components. The condition is due to insufficient glutathione synthetase enzyme. The condition may range from mild, resulting in excessive destruction of red blood cells, to severe which includes neurological symptoms.

Glutathionuria

Glutathionuria: A very rare inborn error of metabolism where insufficient gamma-glutamyl transpepidase causes excess glutathione levels in the body.

Glyceraldehyde-3-phosphate dehydrogenase deficiency

Glyceraldehyde-3-phosphate dehydrogenase deficiency: A rare genetic syndrome characterized by a deficiency of an enzyme (Glyceraldehyde-3-phosphate dehydrogenase) which is involved in breaking down carbohydrates consumed in the diet in order to produce energy.

Glycine encephalopathy

Glycine encephalopathy (medical condition): A rare disorder of amino acid metabolism where glycine and proline are unable to be metabolized properly due to defects in the glycine cleavage system. See also Non-ketotic hyperglycinemia: »Introduction: Non-ketotic hyper

Glycine synthase deficiency

Glycine synthase deficiency: A rare genetic disorder characterized by high blood glycine levels which is toxic to the body. The severity of the condition varies according to the degree of deficiency and age of onset. The classical neonatal form is generally quite severe, the atypical mild form which generally includes symptoms such as aggressiveness, behavioral problems and speech problems. The transient neonatal form involves high blood glycine levels at birth which then returns to normal within a couple of months - there was no neurological or developmental impairment.