| spherocytosis, hereditary | A familial congenital haemolytic anaemia characterised by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions. (12 Dec 1998) |
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| neoplastic syndromes, hereditary | The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumour tends to occur at an earlier than average age, individuals may have more than one primary tumour, the tumours may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance. (12 Dec 1998) |
| nephritis, hereditary | Hereditary disease characterised initially by haematuria and slowly progressing to renal insufficiency. It is sometimes associated with perceptual deafness and/or congenital ocular defects. (12 Dec 1998) |
| neuropathies, hereditary motor and sensory | A group of slowly progressive inherited disorders in which the predominant involvement is the peripheral motor neurons with lesser involvement of the peripheral sensory neurons. Neuronal degeneration and atrophy are characteristic of these disorders. Some of the associated characteristics are phytanic acid excess, optic atrophy, and retinitis pigmentosa. (12 Dec 1998) |
| neuropathies, hereditary sensory and autonomic | A group of inherited disorders in which there is selective involvement of the peripheral sensory and autonomic neurons and degeneration of fibres by axonal atrophy and degeneration. Five types of disorders have been described and classified type I through type v. (12 Dec 1998) |
| oedema, hereditary angioneurotic | 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) |
| optic atrophy, hereditary | An inherited disorder in which optic atrophy is associated with muscle weakness, peroneal muscular atrophy and, in some patients, lancinating pains. In these patients the peripheral sensory neurons are probably affected. (12 Dec 1998) |
| 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) |
| 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) |
| anosognosic epilepsy | Epilepsy characterised by attacks of which the person is unaware. Synonym: anosognosic seizures. (05 Mar 2000) |
| automatic epilepsy | <neurology> Seizures with elaborate and multiple sensory, motor, and/or psychic components. A common feature is the clouding of consciousness and amnesia for the event. Some clinical manifestations may include more complex behaviours like burst of anger, emotional outbursts, fear or automatisms. The EEG often reveals spike discharges in the temporal lobe during sleep. (02 Jan 1998) |
| autonomic epilepsy | Episodes of autonomic dysfunction presumably due to diencephalic irritation. Synonym: diencephalic epilepsy, vasomotor epilepsy, vasovagal epilepsy. (05 Mar 2000) |