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

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Disease Ontology 12 DOID:0090100 OMIM 57 300650 ICD10 33 E70.3 MESH via Orphanet 45 C537043 ICD10 via Orphanet 34 E70.3

UMLS via Orphanet 73 C1845069 Orphanet 59 ORPHA1000 MedGen 42 C1845069 UMLS 72 C1845069 C1863198

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1000DefinitionOcular albinism with late-onset sensorineural deafness is a rare, X-linked inherited 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, and related phenotypes are nystagmus and sensorineural hearing impairment

Disease Ontology : ¹² An ocular albinism that is characterized by deafness and vestibular dysfunction and has material basis in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates.

More information from OMIM: 300650

Clinical features from OMIM:

300650

Search Clinical Trials , NIH Clinical Center for Albinism, Ocular, with Late-Onset Sensorineural Deafness

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