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MCID: ALB025
MIFTS: 24
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Albinism, Ocular, with Late-Onset Sensorineural Deafness
Categories:
Rare diseases, Eye diseases, Ear diseases, Metabolic diseases, Fetal diseases, Genetic diseases
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MalaCards integrated aliases for Albinism, Ocular, with Late-Onset Sensorineural Deafness:
Characteristics:Orphanet epidemiological data:59
ocular albinism with late-onset sensorineural deafness
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; HPO:32Classifications:
MalaCards categories:
Global: Rare diseases Metabolic diseases Fetal diseases Genetic diseases Anatomical: Eye diseases Ear diseases
ICD10:
33
34
Orphanet: 59
Rare eye diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
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NIH Rare Diseases
:
53
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 (OASD), is a rare, X-linkedinherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous genesyndrome.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 ocular albinism. An important gene associated with Albinism, Ocular, with Late-Onset Sensorineural Deafness is OASD (Ocular Albinism And Sensorineural Deafness). Affiliated tissues include eye, and related phenotypes are sensorineural hearing impairment and strabismus Disease Ontology : 12 A digenic disease 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
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Diseases in the Albinism, Ocular, with Sensorineural Deafness family:
Diseases related to Albinism, Ocular, with Late-Onset Sensorineural Deafness via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:300650Human phenotypes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:59 32 (show all 11)
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MalaCards organs/tissues related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:41
Eye
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Articles related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:
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Search
GEO
for disease gene expression data for Albinism, Ocular, with Late-Onset Sensorineural Deafness.
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