Albinism, ocular, with late-onset sensorineural deafness

Preferred Label : Albinism, ocular, with late-onset sensorineural deafness;

Symbol : OASD;

CISMeF acronym : OASD;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Ocular albinism with sensorineural deafness; Deafness and ocular albinism;

Description : In a large Afrikaner kindred, Winship et al. (1984) observed 7 males in 4 sibships in 3 generations with the combination of typical ocular albinism and sensorineural deafness of late onset. Typicality of the ocular albinism was supported by numerous macromelanosomes demonstrated on skin biopsy of both affected males and carriers. Deafness was moderately severe by late middle age. The pedigree pattern was consistent with X-linked recessive inheritance. In the same large South African family, Winship et al. (1993) found tight linkage to the DXS452 locus at Xp22.3 using 25 informative meioses, with a maximum lod score of 7.1 at a recombination fraction of 0.0. Since OA1 (300500) has been mapped to Xp22.3-p22.2, Winship et al. (1993) suggested that OA1 and;

Inheritance : X-linked;

Prefixed ID : 300650;

Details

Origin ID

300650;

UMLS CUI

C1845069;

Currated CISMeF NLP mapping
- Albinism ocular late onset sensorineural deafness [MeSH concept]
- Ocular albinism - late-onset sensorineural deafness [ICD-11 More detail]
- Ocular albinism with late-onset sensorineural deafness [ORDO Disease]
- Ocular albinism with late-onset sensorineural deafness (disorder) [SNOMED CT concept]
- albinism ocular late onset sensorineural deafness [MeSH Supplementary Concept]
- ocular albinism with sensorineural deafness [DO Concept]
HPO term(s)
- Adult onset sensorineural hearing impairment [HPO term]
- Albinism [HPO term]
- Depigmented fundus [HPO term]
- Giant melanosomes in melanocytes [HPO term]
- Nystagmus [HPO term]
- Nystagmus-induced head nodding [HPO term]
- Photophobia [HPO term]
- Visual impairment [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Ocular albinism with late-onset sensorineural deafness [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albinism ocular late onset sensorineural deafness [MeSH concept]
- Ocular albinism with late-onset sensorineural deafness [ORDO Disease]
- Ocular albinism with late-onset sensorineural deafness (disorder) [SNOMED CT concept]
- albinism ocular late onset sensorineural deafness [MeSH Supplementary Concept]

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