| progressive familial scleroderma | A syndrome characterised by calcinosis cutis, Raynaud's phenomenon, sclerodactyly, and telangiectasia; usually due to scleroderma; autosomal dominant form of progressive systemic sclerosis. (05 Mar 2000) |
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| hypercholesterolaemia, familial | A familial disorder characterised by increased plasma concentration of cholesterol carried in low density lipoproteins (ldl) and by a deficiency in a cell surface receptor which regulates ldl degradation and cholesterol synthesis. It is frequently associated with arcus senilis and premature atherosclerosis. (12 Dec 1998) |
| hyperlipidemia, familial combined | A disorder genetically distinct from the other inherited hyperlipidemias characterised by the type II or type IV lipoprotein pattern (the pattern may change from time to time and the lipid level may be normal at one time and abnormal at another time). (12 Dec 1998) |
| hypophosphatemia, familial | Familial disorder characterised by hypophosphatemia associated with decreased renal tubular reabsorption of inorganic phosphorus. It is sometimes associated with osteomalacia or rickets which do not respond to the usual doses of vitamin d. (12 Dec 1998) |
| Danubian endemic familial nephropathy | A tubulointerstitial disease of unknown aetiology occurring in a limited geographic area including adjacent regions of romania, bulgaria, and yugoslavia. (12 Dec 1998) |
| dysautonomia, familial | An autosomal recessive inherited disorder seen predominantly in jewish infants and children. The peripheral autonomic and sensory neurons are affected. The characteristic distinguishing this disorder from other hereditary sensory and autonomic neuropathies is the predominance of autonomic symptoms such as excessive perspiration, defective lacrimation, and hypertension. Insensitivity to pain and areflexia are also present. (12 Dec 1998) |
| type I familial hyperlipoproteinaemia | Hyperlipoproteinaemia characterised by the presence of large amounts of chylomicrons and triglycerides in the plasma when the patient has a normal diet, and their disappearance on a fat-free diet; low alpha-and beta-lipoproteins on a normal diet, with increase on fat-free diet; decreased plasma postheparin lipolytic activity; and low tissue lipoprotein lipase activity. It is accompanied by bouts of abdominal pain, hepatosplenomegaly, pancreatitis, and eruptive xanthomas; autosomal recessive inheritance. See: familial lipoprotein lipase inhibitor. Synonym: Burger-Grutz syndrome, familial fat-induced hyperlipaemia, familial hyperchylomicronaemia, familial hypertriglyceridemia, idiopathic hyperlipaemia. (05 Mar 2000) |
| type II familial hyperlipoproteinaemia | Hyperlipoproteinaemia characterised by increased plasma levels of beta-lipoproteins, cholesterol, and phospholipids, but normal triglycerides; heterozygotes have mild lipid changes and are susceptible to atherosclerosis in middle age, but homozygotes have severe changes often with generalised xanthomatosis and xanthelasma, and frank clinical atherosclerosis as young adults. The primary defect is a deficiency of apoprotein of VLDL, and the disorder is divided into two classes: 1) type IIA, which has elevated LDL due to a deficiency of the receptor or a modified apolipoprotein B-100; 2) type IIB, which has elevated LDL and triglycerides; autosomal dominant inheritance. Synonym: familial hyperbetalipoproteinaemia, familial hypercholesteraemic xanthomatosis, familial hypercholesterolaemia. (05 Mar 2000) |
| type III familial hyperlipoproteinaemia | Hyperlipoproteinaemia characterised by increased plasma levels of LDL, beta-lipoproteins, pre-beta-lipoproteins, cholesterol, phospholipids, and triglycerides; hypertriglyceridemia induced by a high carbohydrate diet, and glucose tolerance is abnormal; frequent eruptive xanthomas and atheromatosis, particularly coronary artery disease; biochemical defect lies in apolipoproteins; there are many varieties. Synonym: carbohydrate-induced hyperlipaemia, dysbetalipoproteinaemia, familial hyperbetalipoproteinaemia and hyperprebetalipoproteinaemia, familial hypercholesterolaemia with hyperlipaemia. (05 Mar 2000) |
| type IV familial hyperlipoproteinaemia | Plasma levels of VLDL, pre-beta-lipoproteins and triglycerides are increased on a normal diet, but beta-lipoproteins, cholesterol, and phospholipids are normal; hypertriglyceridemia is induced by a high carbohydrate diet; may be accompanied by abnormal glucose tolerance and susceptibility to ischemic heart disease; probably autosomal recessive inheritance. Synonym: carbohydrate-induced hyperlipaemia, familial hyperprebetalipoproteinaemia, familial hypertriglyceridemia. (05 Mar 2000) |
| type V familial hyperlipoproteinaemia | Hyperlipoproteinaemia characterised by increased plasma levels of chylomicrons, VLDL, pre-beta-lipoproteins, and triglycerides, and slight rise of cholesterol on a normal diet, with beta-lipoproteins normal; may be accompanied by bouts of abdominal pain, hepatosplenomegaly, susceptibility to atherosclerosis, and abnormal glucose tolerance; probably autosomal recessive inheritance. Synonym: combined fat-and carbohydrate-induced hyperlipaemia, familial hyperchylomicronaemia with hyperprebetalipoproteinaemia, mixed hyperlipaemia. (05 Mar 2000) |
| familial | Occurring in families. An inherited disorder or trait. (27 Sep 1997) |
| familial adenomatous polyposis | <gastroenterology> Genetic disease with numerous precancerous polyps in the colon and rectum. Also called familial polyposis. (12 Dec 1998) |
| familial aggregation | <genetics> The occurrence of a trait in more members of a family than can be readily accounted for by chance; presumptive but not cogent evidence of the operation of genetic factors. (05 Mar 2000) |
| familial amyloid neuropathy | <neurology> A disorder in which various peripheral nerves are infiltrated with amyloid and their functions disturbed, an abnormal prealbumin is also formed and is present in the blood; characteristically, it begins during mid-life and is found largely in persons of Portuguese descent. Other rare clinical types occur. Inheritance: autosomal dominant. Synonym: familial amyloidosis, hereditary amyloidosis. (05 Mar 2000) |