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OASD
MCID: ALB025
MIFTS: 50
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Albinism, Ocular, with Late-Onset Sensorineural Deafness (OASD)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Albinism, Ocular, with Late-Onset Sensorineural Deafness:
Name: Albinism, Ocular, with Late-Onset Sensorineural Deafness
56
71
Characteristics:Orphanet epidemiological data:58
ocular albinism with late-onset sensorineural deafness
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Metabolic diseases Fetal diseases Genetic diseases Anatomical: Eye diseases Ear diseases
ICD10:
32
33
Orphanet: 58
Rare eye diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis External Ids:
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1000 Definition Ocular 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 ocular albinism and waardenburg syndrome type 4. An important gene associated with Albinism, Ocular, with Late-Onset Sensorineural Deafness is TYR (Tyrosinase), and among its related pathways/superpathways are ERK Signaling and HIV Life Cycle. Affiliated tissues include eye, kidney and uterus, 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. UniProtKB/Swiss-Prot : 73 Waardenburg syndrome 2, with ocular albinism, autosomal recessive: A disorder characterized by the association of features typical of Waardenburg syndrome type 2 with ocular albinism. Patients manifest reduced visual acuity, albinotic fundus, deafness, hypomelanosis.
More information from OMIM:
300650
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Human phenotypes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:58 31 (show all 11)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:300650GenomeRNAi Phenotypes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:26 (show all 13)
MGI Mouse Phenotypes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:45 (show all 23)
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MalaCards organs/tissues related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:40
Eye,
Kidney,
Uterus
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Articles related to Albinism, Ocular, with Late-Onset Sensorineural Deafness:
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Genes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness (4 elite genes):(show all 17) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Albinism, Ocular, with Late-Onset Sensorineural Deafness:6 (show all 15)
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Search
GEO
for disease gene expression data for Albinism, Ocular, with Late-Onset Sensorineural Deafness.
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Pathways related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:(show top 50) (show all 64)
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Cellular components related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:
Biological processes related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:(show all 35)
Molecular functions related to Albinism, Ocular, with Late-Onset Sensorineural Deafness according to GeneCards Suite gene sharing:(show all 18)
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