Albinism, Ocular, with Late-Onset Sensorineural Deafness (OASD)

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Disease Ontology 12 DOID:0090100 OMIM 58 300650 ICD10 34 E70.3 MESH via Orphanet 46 C537043 ICD10 via Orphanet 35 E70.3

UMLS via Orphanet 75 C1845069 Orphanet 60 ORPHA1000 MedGen 43 C1845069 SNOMED-CT via HPO 70 128602000 15890002 18064000 22066006 246622003 246635007 263934009 26399002 397540003 409668002 563001 60700002 7973008 more UMLS 74 C1845069 C1863198

NIH Rare Diseases : ⁵⁴ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1000Disease definitionOcular albinism with late-onset sensorineural deafness is a rare, X-linkedinherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.Visit the Orphanet disease page for more resources.

MalaCards based summary : Albinism, Ocular, with Late-Onset Sensorineural Deafness, also known as ocular albinism with sensorineural deafness, is related to albinism, ocular, with sensorineural deafness and albinism. An important gene associated with Albinism, Ocular, with Late-Onset Sensorineural Deafness is OASD (Ocular Albinism And Sensorineural Deafness), and among its related pathways/superpathways are Neural Crest Differentiation and Melanocyte Development and Pigmentation. Affiliated tissues include eye, skin and breast, and related phenotypes are nystagmus and sensorineural hearing impairment

Disease Ontology : ¹² An ocular albinism characterized by ocular albinism, deafness and vestibular dysfunction that has material basis in mutations in the MITF gene on chromosome 3p13 and at least one other gene. The second gene mutation has been reported to be in the gene TYR on chromosome 11q14.3 and in the gene TYRP1 on chromosome 9p23.

Description from OMIM: 300650

Clinical features from OMIM:

300650

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Search GEO for disease gene expression data for Albinism, Ocular, with Late-Onset Sensorineural Deafness.