| 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) |
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| 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 multiple exostoses | A disturbance of enchondral bone growth in which multiple, generally benign osteochondromas of long bones appear during childhood, commonly with shortening of the radius and fibula; the ill-effects are usually mechanical but malignant change is rare; autosomal dominant inheritance. Synonym: diaphysial aclasis, hereditary deforming chondrodystrophy, multiple exostosis, osteochondromatosis. (05 Mar 2000) |
| hereditary multiple trichoepithelioma | <tumour> Multiple small benign nodules, occurring mostly on the skin of the face, derived from basal cells of hair follicles enclosing small keratin cysts; frequent autosomal dominant inheritance. Synonym: acanthoma adenoides cysticum, Brooke's tumour, epithelioma adenoides cysticum, hereditary multiple trichoepithelioma. Origin: tricho-+ epithelioma (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) |
| telangiectasia, hereditary haemorrhagic | An autosomal dominant vascular anomaly characterised by the presence of multiple small telangiectases of the skin, mucous membranes, gastrointestinal tract, and other organs, associated with recurrent episodes of bleeding from affected sites and gross or occult melena. (12 Dec 1998) |
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| elliptocytosis, hereditary | An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape. (12 Dec 1998) |
| exostoses, multiple hereditary | Hereditary disorder transmitted by an autosomal dominant gene and characterised by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation. (12 Dec 1998) |
| eye diseases, hereditary | Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. (12 Dec 1998) |
| Leber's hereditary optic atrophy | Hereditary degeneration of the optic nerve and papillomacular bundle with resulting rapid loss of central vision, progressive for several weeks, then usually stationary with permanent central scotoma; age of onset is variable, most often in the third decade; more males than females are affected and transmission is cytoplasmic and strictly on the female side. Mutation on the mitochondrial chromosome involved, which presumably interacts with an X-linked mutant. This mechanism may explain the bizarre sex ratio, which differs significantly from one country to another. (05 Mar 2000) |