| FMFD | V familial multiple coagulation factor deficiency V |
|---|---|
| GHD | growth hormone deficiency |
| GKD | glycerol kinase deficiency |
| GRANDDAD | growth delay-aged facies-normal development-deficiency of subcutaneous fat [syndrome] |
| GSD | genetically significant dose; Gerstmann-Straussler disease; glutathione synthetase deficiency; glyco... |
| iron deficiency anaemia | Hypochromic microcytic anaemia characterised by low serum iron, increased serum iron-binding capacity, decreased serum ferritin, and decreased marrow iron stores. Synonym: hypoferric anaemia. (05 Mar 2000) |
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| taste deficiency | Reduced or absent ability to detect a bitter taste in a group of compounds of which phenylthiocarbamide is the prototype, due to the homozygous state of a common allele. See: phenylthiourea. (05 Mar 2000) |
| thiamin deficiency | An endemic form of polyneuritis (nerve inflammation), due to an unbalanced diet, with a deficiency of vitamin B1(thiamin). Common in those who chronically abuse alcohol. Synonym: beriberi. (27 Sep 1997) |
| thiamine deficiency | A nutritional condition produced by a deficiency of thiamine in the diet, characterised by anorexia, irritability, and weight loss. Later, patients experience weakness, peripheral neuropathy, headache, and tachycardia. In addition to being caused by a poor diet, thiamine deficiency in the united states most commonly occurs as a result of alcoholism, since ethanol interferes with thiamine absorption. In countries relying on polished rice as a dietary staple, beriberi prevalence is very high. (12 Dec 1998) |
| thrombotic disease due to protein c deficiency | Protein C is a protein in plasma that enters into the cascade of biochemical events leading to the formation of a clot. Deficiency of protein c results in thrombotic (clotting) disease and excess platelets with recurrent thrombophlebitis (inflammation of the vein that occurs when a clot forms). The clot can break loose and travel through the blood stream (thromboembolism) to the lungs causing a pulmonary embolism, brain causing a stroke (cerebrovascular accident), heart causing an early heart attack, skin causing what in the newborn is called neonatal purpura fulminans, the adrenal gland causing haemorrhage with abdominal pain, abnormally low blood pressure (hypotension), and salt loss. Protein c deficiency is due to possession of one gene (heterozygosity) in chromosome band 2q13-14. The possession of two such genes (homozygosity) is usually lethal. (12 Dec 1998) |
| transferase deficiency galactosaemia | An autosomal recessive disorder in which there is a deficiency of galactose-1-phosphate uridylyltransferase (see main entry for galactosaemia). (05 Mar 2000) |
| epimerase deficiency galactosaemia | An inborn error in metabolism in which there is a deficiency of uridine diphosphate galactose 4-epimerase; galactose 1-phosphate accumulates. (05 Mar 2000) |
| extrinsic factor deficiency | <disease> An inherited disorder that causes abnormal blood clotting due to the congenital absence of one of the 20 different plasma proteins involved in the coagulation process. Symptoms include bleeding of the gums, nosebleeds, easy bruising, bleeding in muscles or joints and excessive menstrual bleeding. Treatment includes the administration of plasma concentrates of factor VII (extrinsic factor). (27 Sep 1997) |
| factor II deficiency | A congenital or acquired disorder of blood clotting where there is a deficiency of factor II (prothrombin), one of 20 necessary plasma proteins for normal blood coagulation. Acquired factor II deficiency may result from vitamin K deficiency, severe liver disease and anticoagulant drugs. Symptoms include abnormal bleeding, nosebleeds, abnormal menstrual bleeding, easy bruising and umbilical cord bleeding at birth. Treatment involves the infusion of fresh frozen plasma. Vitamin K may be administered in select cases. (27 Sep 1997) |
| factor ix deficiency | A form of haemophilia in males that results from a deficiency of clotting factor IX, transmitted as a X-linked trait. Symptoms include easy bruising, nosebleeds, bleeding gums and bleeding into muscle tissue (haematoma) or a joint space (haemarthrosis). Treatment includes the infusion of factor IX concentrates to normalize blood coagulation. (27 Sep 1997) |
| factor v deficiency | An inherited disorder that results in abnormal blood clotting due to the deficiency of factor V, one of 20 plasma proteins responsible for the maintenance of normal blood clotting. Symptoms include excessive bleeding, bleeding gums, nosebleeds, easy bruising, excessive menstrual bleeding and bleeding into muscle tissue (haematoma) or a joint space (haemarthrosis). Treatment includes the infusion of fresh frozen plasma to restore deficient factor V. (27 Sep 1997) |
| factor vii deficiency | An inherited disorder that causes abnormal blood clotting due to the congenital absence of one of the 20 different plasma proteins involved in the coagulation process. Symptoms include bleeding of the gums, nosebleeds, easy bruising, bleeding in muscles or joints and excessive menstrual bleeding. Treatment includes the administration of plasma concentrates of factor VII (extrinsic factor). (27 Sep 1997) |
| factor viii deficiency | A sex-linked genetic disease affecting males that results from a deficiency of clotting factor VIII, a protein factor that is required for normal blood coagulation. Symptoms include easy bruising, bleeding gums, nosebleeds and bleeding into muscle tissue (haematoma) or a joint space (haemarthrosis). Treatment includes the infusion of factor VIII concentrate intravenously to restore this essential factor and normalize blood coagulation. Inheritance: sex-linked. (27 Sep 1997) |
| factor x deficiency | Blood coagulation disorder usually inherited as an autosomal recessive trait, though it can be acquired. It is characterised by defective activity in both the intrinsic and extrinsic pathways, impaired thromboplastin time, and impaired prothrombin consumption. (12 Dec 1998) |
| factor xi deficiency | A deficiency of blood coagulation factor xi (known as plasma thromboplastin antecedent or pta or antihemophilic factor c) resulting in a systemic blood-clotting defect called haemophilia c or rosenthal's syndrome, that may resemble classical haemophilia. (12 Dec 1998) |