| 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) |
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| 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) |
| familial multiple endocrine adenomatosis | The presence of functioning tumours in more than one endocrine gland, commonly the pancreatic islets and parathyroid glands, which may be associated with Zollinger-Ellison syndrome; dominant inheritance. Synonym: multiple endocrine adenomatosis. (05 Mar 2000) |
| familial nephrosis | The nephrotic syndrome appearing in sibs in infancy, without nerve deafness. (05 Mar 2000) |
| familial neuroviscerolipidosis | infantile, generalised GM1 gangliosidosis |
| familial nonhaemolytic nonobstructive jaundice | An inherited disorder that affects the way bilirubin in handled by the liver. Thought to be due to an inborn error of bilirubin metabolism. Symptoms include mild jaundice, weakness, fatigue, nausea and abdominal pain. (27 Sep 1997) |
| familial nonhemolytic jaundice | Mild jaundice due to increased amounts of unconjugated bilirubin in the plasma without evidence of liver damage, biliary obstruction, or haemolysis; thought to be due to an inborn error of metabolism in which the excretion of bilirubin by the liver is defective, ascribed to decreased conjugation of bilirubin as a glucuronide or impaired uptake of hepatic bilirubin. Synonym: benign familial icterus, constitutional hepatic dysfunction, Gilbert's disease, Gilbert's syndrome, Hebra's disease. (05 Mar 2000) |
| familial paroxysmal rhabdomyolysis | acute recurrent rhabdomyolysis |
| familial periodic paralysis | <neurology> A rare inherited disorder, affecting men more often than women, characterised by intermittent episodes of muscle weakness or paralysis. One form, known as hypokalaemic periodic paralysis, is an autosomal recessive disorder that is characterised by bouts of muscle weakness (or paralysis) accompanied by low serum potassium levels. Inheritance: autosomal recessive. Incidence: 1 in 100,000. (27 Sep 1997) |