| 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) |
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| 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) |
| familial hypobetalipoproteinaemia | A disorder similar to abetalipoproteinaemia; chylomicron formation still occurs, but LDL levels are typically low. (05 Mar 2000) |
| familial hypogonadotropic hypogonadism | A group of disorders characterised by failure of sexual development, owing to inadequate secretion of pituitary gonadotropins; perhaps X-linked or autosomal recessive inheritance. (05 Mar 2000) |
| familial hypophosphatemic rickets | <radiology> X-linked recessive, defect in renal tubular resorption of phosphate, presents at 1 yr, progressive limb deformities X-ray: less severe changes than other rickets, presents later Differential diagnosis features: family hx, normal serum calcium, marked hypophosphataemia (decreased PO4), no secondary hyperparathyroidism (12 Dec 1998) |
| familial hypoplastic anaemia | Congenital nonregenerative, familial hypoplastic, or pure red cell anaemia; erythrogenesis imperfecta; Diamond-Blackfan syndrome; autosomal recessive normocytic normochromic anaemia resulting from congenital hypoplasia of the bone marrow, which is grossly deficient in erythroid precursors while other elements are normal; anaemia is progressive and severe, but leukocyte and platelet counts are normal or slightly reduced; survival of transfused erythrocytes is normal; minor congenital anomalies are found in some patients. Synonym: congenital nonregenerative anaemia, Diamond-Blackfan anaemia, Diamond-Blackfan syndrome, erythrogenesis imperfecta, familial hypoplastic anaemia, pure red cell anaemia. (05 Mar 2000) |
| familial intestinal polyposis | Begins usually in late childhood; polyps increase in numbers, causing symptoms of chronic colitis, and carcinoma of the colon almost invariably develops in untreated cases; autosomal dominant inheritance. In the Gardner syndrome there are extracolonic changes (desmoid tumours, etc.). Synonym: polyposis coli. Hamartomatous polyposis of the small or large intestine, Peutz-Jeghers syndrome with melanin spots on the lips, less common, miscellaneous, rare, and doubtful occurrences. Synonym: familial intestinal polyposis. (05 Mar 2000) |
| familial juvenile nephrophthisis | <nephrology> A rare hereditary kidney disease characterised by the gradual loss of kidney function due to the presence of cysts in the renal medulla. Symptoms include high urine output (cannot concentrate the urine), weakness, weight loss, nocturia, fatigue and headache. There is no cure and usually progresses from chronic renal failure to end stage renal disease. (27 Sep 1997) |
| familial lipodystrophy | Autosomal dominant; partial lip associated with multifacial hypoplasin, retarded bone age, and hypotichosis. (05 Mar 2000) |
| familial lipoprotein lipase deficiency | An rare inherited disorder where there is a deficiency of an enzyme (lipoprotein lipase) which breaks down fat molecules, causing the accumulation of fats or lipoproteins in the blood. Symptoms in infancy include abdominal pain (appears as if its colic), failure to thrive and skin lesions (xanthomas). (27 Sep 1997) |
| familial lipoprotein lipase inhibitor | An inhibitor found in certain individuals that inhibits lipoprotein lipase resulting in accumulation of chylomicrons, VLDL, and triacylglycerols; similar in symptoms to familial lipoprotein lipase deficiency. (05 Mar 2000) |
| familial mediterranean fever | An inherited intestinal disorder that is characterised by recurrent fevers and intestinal inflammation. Usually has onset between the ages of 5 and 15 years and is more common in those of Mediterranean descent. Symptoms include fevers and abdominal pain. Some may also suffer from chest pains, multiple joint pains and red swollen legs. (27 Sep 1997) |
| familial mental retardation 1 | See FMR1. (12 Dec 1998) |
| familial mental retardation protein | See FMRP. (12 Dec 1998) |
| familial microcytic anaemia | A rare type of autosomal recessive hypochromic microcytic anaemia associated with a defect of iron metabolism characterised by high serum iron, hepatic iron deposits, and absence of stainable bone marrow iron stores. (05 Mar 2000) |