| hereditary amyloidosis | <neurology> A disorder in which various peripheral nerves are infiltrated with amyloid and their functions disturbed, an abnormal prealbumin is also formed and is present in the blood; characteristically, it begins during mid-life and is found largely in persons of Portuguese descent. Other rare clinical types occur. Inheritance: autosomal dominant. Synonym: familial amyloidosis, hereditary amyloidosis. (05 Mar 2000) |
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| hereditary angioedema | A genetic form of angioedema. (angioedema is also referred to as quinke's disease.) persons with it are born lacking an inhibitor protein (called c1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of c1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioneurotic oedema. (12 Dec 1998) |
| hereditary angioneurotic oedema | A genetic form of angioedema. (angioedema is also referred to as quinke's disease.) persons with it are born lacking an inhibitor protein (called c1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of c1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioedema. (12 Dec 1998) |
| hereditary angio oedema | <biochemistry> Condition in which there seems to be uncontrolled production of C2 kinin because of a deficiency in C1 inhibitor levels. (18 Nov 1997) |
| hereditary areflexic dystasia | A rare autosomal dominant neurological disorder with many of the clinical features of hereditary hypertrophic sensorimotor polyneuropathy combined with an essential tremor. Synonym: hereditary areflexic dystasia. (05 Mar 2000) |
| hereditary ataxia | A simple autosomal recessive trait in fox terrier dogs that produces a progressive general ataxia. (05 Mar 2000) |
| hereditary benign intraepithelial dyskeratosis | An autosomal dominant condition consisting of white spongy lesions of the buccal mucosa, floor of the mouth, ventral lateral tongue, gingiva and palate. Transient gelatinous plaques form over the cornea, which may produce temporary blindness, hereditary benign intraepithelial dyskeratosis. Synonym: hereditary benign intraepithelial dyskeratosis. (05 Mar 2000) |
| hereditary cerebellar ataxia | A disease of later childhood and early adult life, marked by ataxic gait, hesitating and explosive speech, nystagmus, and sometimes optic neuritis. It probably comprises several distinct conditions with diverse patterns of inheritance. Collective term for a number of hereditary disorders in which cerebellar signs are the most prominent finding. (05 Mar 2000) |
| hereditary chorea | A progressive disorder usually beginning in young to middle age, consisting of a triad of choreoathetosis, dementia, and autosomal dominant inheritance with complete penetrance. Bilateral marked wasting of the putamen and the head of the caudate nucleus is characteristic. Synonym: chronic progressive chorea, degenerative chorea, hereditary chorea, Huntington's disease. (05 Mar 2000) |
| hereditary coproporphyria | <haematology> A group of metabolic disorders that result from a disturbance in porphyrin metabolism, causing increased formation and excretion of porphyrin or its precursors. Acute intermittent porphyria is a rare inherited form that can result in abdominal pain, photosensitivity and neurological disturbances. The various forms can be differentiated measuring various blood prophyrins. Inheritance: autosomal dominant. (27 Sep 1997) |
| hereditary deafness and nephropathy | <nephrology, 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. Origin: Gr. Pathos = disease (27 Sep 1997) |
| hereditary deforming chondrodystrophy | 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 exostosis | <radiology> (osteochondromatosis) Autosomal dominant, M more than F, multiple exostoses, snowflake calcification of mature cartilage cap, may leading to chondrosarcoma, short metacarpals (especially 4th and 5th) (12 Dec 1998) |
| 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) |
| 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) |