| familial glycinuria | A metabolic disorder believed to be due to defective renal glycine reabsorption; it may or may not be accompanied by oxalate urolithiasis; may be the heterozygous state of iminoglycinuria; autosomal dominant inheritance. (05 Mar 2000) |
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| familial goiter | A group of heritable thyroid disorders in which goiter is commonly apparent first during childhood; often associated with skeletal and/or mental retardation, and with other signs of hypothyroidism that may develop with age. Various types of familial goiter have been identified: 1) iodide transport defect, in which the gland is unable to concentrate iodide; 2) organification defect, in which the iodination of tyrosine is defective; 3) Pendred's syndrome; 4) coupling defect, in which cretinism results from defective coupling of iodotyrosines to form iodothyronines; 5) iodotyrosine deiodinase defect, in which deiodination of iodotyrosine is defective, considerable glandular loss of these hormonal precursors occurs, and cretinism may be present; 6) plasma iodoprotein disorder, in which an abnormal iodinated serum protein that is insoluble in acidic butanol is present; 7) hereditary hyperthyroidism. (05 Mar 2000) |
| 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) |
| familial hyperbetalipoproteinaemia | 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) |
| familial hyperbetalipoproteinaemia and hyperprebetalipoproteinaemia | 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) |
| familial hypercholesteraemic xanthomatosis | 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) |
| familial hypercholesterolaemia | <biochemistry, cardiology> Excess of cholesterol in plasma as a result of defects in the recycling process that leads to reduced uptake of LDL (low density lipoprotein) into coated vesicles. (18 Nov 1997) |
| familial hypercholesterolaemia with hyperlipaemia | 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) |
| familial hyperchylomicronaemia | 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) |
| familial hyperchylomicronaemia with hyperprebetalipoproteinaemia | 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 hyperlipoproteinaemia | <biochemistry> A relatively rare (7 out of 1,000) genetic disease in which there is elevation in the blood triglycerides, cholesterol and low density lipoprotein (LDL). Also called type II hyperlipoproteinaemia, familial hyperlipoproteinaemia or familial hypercholesterolaemia. Origin: Gr. Haima = blood (27 Sep 1997) |
| familial hyperprebetalipoproteinaemia | 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) |
| familial hypertriglyceridaemia | <biochemistry> A common inherited disorder in which the concentration of VLDL is elevated in the bloodstream. VLDL is the lipoprotein carrier that carries triglycerides. Elevations of the triglyceride level (particularly in association with elevated cholesterol) have been correlated with the development of atherosclerosis, the underlying cause of heart disease and stroke. (27 Sep 1997) |
| familial hypertriglyceridemia | 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) |
| familial hypertrophic cardiomyopathy | Familial occurrence of hypertrophic cardiomyopathy exhibiting an autosomal dominant pattern of inheritance. Familial cardiomyopathy of various kinds occurs with autosomal dominant inheritance. There is also an asymmetrical form affecting the ventricles and the interventricular septum. (05 Mar 2000) |