| familial breast cancer | <oncology> A number of factors have been identified that increase the risk of breast cancer. One of the strongest of these risk factors is the history of breast cancer in a relative. About15-20% of women with breast cancer have such a family history of the disease, clearly reflecting the participation of inherited (genetic) components in the development of some breast cancers. Dominant breast cancer suceptibility genes, including BRCA1 and BRCA2, appear responsible for about 5% of all breast cancer. See related entries to: Breast cancer susceptibility genes; BRCA1; BRCA2. There are 2 genes; BRCA1 and BRCA2 which are susceptibility genes for breast cancer. They are inherited factors that predispose to breast cancer. Put otherwise, these genes make one more susceptible to the disease and so increase the risk of developing breast cancer. Two of these genes, BRCA1 and BRCA2, have been identified (and prominently publicised). Several other genes (those for the li-fraumeni syndrome, cowden disease, muir-torre syndrome, and ataxia-telangiectasia) are also known to predispose to breast cancer. However, since all of these known breast cancer susceptibility genes together do not account for more than a minor fraction (1/5th at most) of breast cancer that clusters in families, it is clear that more breast cancer genes remain to be discovered. (12 Dec 1998) |
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| familial cancer | <oncology> One occurring in families more frequently than would be expected by chance. (09 Oct 1997) |
| familial chylomicronemia syndrome | <endocrinology, syndrome> An inherited disorder resulting in accumulation of chylomicrons as well as triacylglycerols. See: chylomicronemia. (05 Mar 2000) |
| familial combined hyperlipemia | familial hyperlipoproteinemia |
| familial combined hyperlipidaemia | <biochemistry, endocrinology> Inherited as a defective gene, this disorder is characterised by elevations in serum cholesterol and/or triglycerides. There are often multiple types of lipoproteins (LDL) elevated in one family. This condition is associated with an increased risk of cardiovascular disease. (27 Sep 1997) |
| familial dysautonomia | <neurology, syndrome> A congenital syndrome with specific disturbances of the nervous system and aberrations in autonomic nervous system function such as indifference to pain, diminished lacrimation, poor vasomotor homeostasis, motor incoordination, labile cardiovascular reactions, hyporeflexia, frequent attacks of bronchial pneumonia, hypersalivation with aspiration and difficulty in swallowing, hyperemesis, emotional instability, and an intolerance for anaesthetics; autosomal recessive inheritance. Synonym: Riley-Day syndrome. (05 Mar 2000) |
| familial dysbetalipoproteinaemia | <biochemistry, cardiology> An inherited disorder (gene defect) where both cholesterol and triglycerides are elevated in the same patient. This condition accelerates the effects of atherosclerosis and thus increases the risk of cardiovascular disease. Conditions such as hypothyroidism, obesity and diabetes enhances this risk. Origin: Gr. Haima = blood (27 Sep 1997) |
| familial emphysema | Emphysema inherited in association with severe alpha-1 antitrypsin deficiency. It may occur as an isolated feature or with cutis laxa and haemolytic anaemia. (05 Mar 2000) |
| familial erythroblastic anaemia | An outmoded term for thalassaemia major. (05 Mar 2000) |
| familial fat-induced hyperlipaemia | 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 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) |
| 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) |