| hereditary fructose intolerance | A metabolic error due to deficiency of hepatic fructose 1,6-bisphosphate aldolase B (which also acts on fructose 1-phosphate); the second enzyme in the specific fructose pathway; vomiting and hypoglycaemia follow ingestion of fructose; prolonged fructose ingestion in young children results in failure to thrive and in jaundice, hepatomegaly, albuminuria, aminoaciduria, and sometimes cachexia and death; autosomal recessive inheritance in most families. (05 Mar 2000) |
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| hereditary haemorrhagic telangiectasia | <gastroenterology> An inherited disease characterised by thin blood vessel walls in the nose, skin and gastrointestinal tract. This condition ins associated with a high risk of bleeding complications. Inheritance: autosomal dominant. (27 Sep 1997) |
| hereditary haemorrhagic thrombasthenia | <haematology> A form of congenital platelet functional defect that result in prolongation of the bleeding time. Characteristics include mucosal and post-operative bleeding that may be severe. (17 Dec 1997) |
| hereditary hyperthyroidism | A rare inherited (autosomal dominant) disorder with constitutive stimulation of the thyrocytes. (05 Mar 2000) |
| hereditary hypertrophic neuropathy | dejerine-Sottas disease |
| hereditary lymphedema | Permanent pitting oedema usually confined to the legs; two types, congenital (Milroy's disease ), or with onset at about the age of puberty (Meige's disease ); autosomal dominant inheritance. (05 Mar 2000) |
| hereditary methemoglobinaemia | Methemoglobinaemia due to formation of any one of a group of abnormal a chain or b chain haemoglobins collectively known as haemoglobin M. Slate-gray cyanosis occurs in early infancy, without pulmonary or cardiac disease, and is resistant to ascorbic acid or methylene blue therapy; autosomal dominant inheritance, methemoglobinaemia due to deficiency of cytochrome b5 reductaseor methemoglobin reductase, the enzyme responsible for reduction of intraerythrocyte methemoglobin; cyanosis is improved by ascorbic acid or methylene blue; autosomal recessive inheritance, one case of methemoglobinaemia has been reported that apparently is due to a deficiency of cytochrome b5. Synonym: hereditary methemoglobinaemia, hereditary methemoglobinaemic cyanosis, primary methemoglobinaemia. (05 Mar 2000) |
| hereditary methemoglobinaemic cyanosis | Methemoglobinaemia due to formation of any one of a group of abnormal a chain or b chain haemoglobins collectively known as haemoglobin M. Slate-gray cyanosis occurs in early infancy, without pulmonary or cardiac disease, and is resistant to ascorbic acid or methylene blue therapy; autosomal dominant inheritance, methemoglobinaemia due to deficiency of cytochrome b5 reductaseor methemoglobin reductase, the enzyme responsible for reduction of intraerythrocyte methemoglobin; cyanosis is improved by ascorbic acid or methylene blue; autosomal recessive inheritance, one case of methemoglobinaemia has been reported that apparently is due to a deficiency of cytochrome b5. Synonym: hereditary methemoglobinaemia, hereditary methemoglobinaemic cyanosis, primary methemoglobinaemia. (05 Mar 2000) |
| hereditary mutation | A gene change that occurs in a germ cell (an egg or sperm) to become incorporated in every cell in the body. Hereditary mutations (also called germline mutations) play a role in cancer as, for example, the eye tumour retinoblastoma and wilms' tumour of the kidney. (12 Dec 1998) |
| hereditary myokymia | A syndrome consisting of myokymia, hypoglycaemia, and disturbed thyroid function. (05 Mar 2000) |
| hereditary nephritis | <pathology> An inherited disorder involving damage to the kidneys, haematuria and hearing loss. In some individuals vision may also be affected. This genetic disease is uncommon. Symptoms include loss of hearing, abnormal colour to urine, swelling, cough and decline in vision. Inheritance: sex-linked autosomal dominant. Incidence: 1 in 50,000. (27 Sep 1997) |
| hereditary opalescent dentin | Synonym: dentinogenesis imperfecta. Synonym: opalescent dentin. (05 Mar 2000) |
| hereditary pancreatitis | <radiology> Rare, autosomal dominant, variable penetrance, onset often in childhood, on X-ray: large, round, peripherally dense calculi (12 Dec 1998) |
| hereditary peroneal nerve dysfunction | <neurology> A slowly progressive genetic disorder characterised by muscle atrophy in the feet and the legs, progressing to the hands and arms, due to a disorder involving the destruction of nerves (degeneration of the myelin sheath). Other features include foot drop and a slapping gait. There is no specific treatment for this disorder. (27 Sep 1997) |
| hereditary persistence of foetal haemoglobin | <haematology> Hereditary persistence of foetal haemoglobin is a genetic condition where adult types of haemoglobin fail to develop and the types of haemoglobin the individual had as a foetus remains present well past the point when they would normally have stopped being produced. (09 Oct 1997) |