Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant

Preferred Label : Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Hagemoser et al. (1989) reported 2 unrelated families with a disorder characterized by optic atrophy, hearing loss, and peripheral neuropathy. In the first family, there were 13 affected members spanning 4 generations with an instance of male-to-male transmission. Most patients had onset of bilateral hearing loss and visual loss with optic atrophy by school-age. Onset of neurologic features occurred only in a subset of patients as adults, and consisted primarily of decreased vibratory sensation and hyporeflexia in the lower limbs. Nerve conduction velocities suggested an axonal sensory and motor neuropathy. The second family had 3 affected members in 3 generations. Optic atrophy was recognized in the first decade of life. The proband had visual loss at school age and hearing loss by age 13 years. Decreased distal sensation developed as an adult. Hagemoser et al. (1989) concluded that this disorder showed autosomal dominant inheritance with initial presentation of optic atrophy. See 311070 and 258650 for an X-linked and a possible autosomal recessive form of the disorder, respectively. *FIELD* RF 1. Hagemoser, K.; Weinstein, J.; Bresnick, G.; Nellis, R.; Kirkpatrick, S.; Pauli, R. M.: Optic atrophy, hearing loss, and peripheral neuropathy. Am. J. Med. Genet. 33: 61-65, 1989. *FIELD* CS Autosomal dominant;

Inheritance : Autosomal dominant;

Prefixed ID : 165199;

Details

Origin ID

165199;

UMLS CUI

C1833831;

Automatic exact mappings (from CISMeF team)
- optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant [MeSH concept]
- optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Autosomal dominant optic atrophy plus syndrome [ORDO Disease]
- Autosomal dominant optic atrophy plus syndrome [ICD-11 More detail]
- Autosomal dominant optic atrophy plus syndrome (disorder) [SNOMED CT concept]
- hagemoser weinstein bresnick syndrome [MeSH Supplementary Concept]
HPO term(s)
- Areflexia of lower limbs [HPO term]
- Autosomal dominant inheritance [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Optic atrophy [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Autosomal dominant optic atrophy plus syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant [MeSH Supplementary Concept]
- optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant [MeSH concept]

Keyword's position in hierarchy(ies) :

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