| PKD | Pyruvate Kinase Deficiency |
|---|---|
| SCID | Severe Combined Immuno-Deficiency; 중증 복합 면역 결핍증 |
| WAGR syndrome | Wilms's Tumor Aniridia Genital Anomalies Me... |
| AAD | acute agitated delirium; alloxazine adenine dinucleotide; alpha-1-antitrypsin deficiency; American A... |
| AAMD | American Academy of Medical Directors; American Association of Mental Deficiency |
| 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) |
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| 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) |
| factor xii deficiency | A deficiency of a specific blood clotting factor (XII) that may be genetic or acquired. Administration of heparin or severe liver disease may result in factor XII (Hageman factor) deficiency. There are usually no symptoms associated with this deficiency, but there may be symptoms of mild blood loss in some cases. Treatment is generally unnecessary. Individuals should be cautioned against the use of medications (for example aspirin, warfarin, heparin) with anticoagulant activity, due to risk of exaggerated effects. (27 Sep 1997) |
| factor xiii deficiency | A deficiency of blood coagulation factor xiii or fibrin stabilizing factor (fsf) which enables fibrin to form a firm blood clot. Deficiency of this factor produces a clinical haemorrhagic diathesis. (12 Dec 1998) |
| yang deficiency | In the yin-yang system of philosophy and medicine, a lack of vital energy (called yangxu in chinese). It manifests itself in various systemic and organic diseases. (12 Dec 1998) |
| familial high density lipoprotein deficiency | Familial high {density lipoprotein deficiency}; a heritable disorder of lipid metabolism characterised by almost complete absence from plasma of high density lipoproteins, and by storage of cholesterol esters in foam cells, tonsillar enlargement, an orange or yellow-gray colour of the pharyngeal and rectal mucosa, hepatosplenomegaly, lymph node enlargement, corneal opacity, and peripheral neuropathy; autosomal recessive inheritance. Synonym: familial high {density lipoprotein deficiency}, Tangier disease. Origin: G. An-, priv., + alpha, a, + lipoprotein + -aemia, blood (05 Mar 2000) |