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ocular albinism with late-onset sensorineural deafness (OASD)
How does this differ from ocular albinism type 1 ?
Pathology:
- macromelanosomes on skin biopsy
Genetics:
1) X-linked, Xp22.3
2) mutations in gene for TBL1X
3) mutations in gene for GPR143
Clinical manifestations:
1) ocular albinism
2) sensorineural deafness
Related
albinism; leucopathy
F-box-like/WD repeat-containing protein TBL1X; SMAP55; transducin beta-like protein 1X; transducin-beta-like protein 1, X-linked (TBL1X TBL1)
G protein-coupled receptor 143 (ocular albinism type 1 protein, GPR143, OA1)
sensorineural hearing loss
General
genetic disease of the eye
genetic disease of the auditory system
Database Correlations
OMIM 300650
References
OMIM :accession 300650