Retinitis Pigmentosa-Deafness Syndrome

Alias:
Retinitis Pigmentosa 21, Formerly
Retinitis Pigmentosa 8, Formerly
Retinitis Pigmentosa-Deafness
Rp21, Formerly
Usher Syndrome
Rp8, Formerly
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinitis Pigmentosa-Deafness Syndrome, also known as retinitis pigmentosa 21, formerly, is related to usher syndrome and retinitis pigmentosa, deafness, mental retardation, and hypogonadism, and has symptoms including coughing, snoring and tinnitus. An important gene associated with Retinitis Pigmentosa-Deafness Syndrome is MT-TS2 (Mitochondrially Encoded TRNA-Ser (AGU/C) 2). The drug Omega 3 Fatty Acid has been mentioned in the context of this disorder. Affiliated tissues include retina, and related phenotype is hearing/vestibular/ear.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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7
153
5

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
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Related Drugs

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CAS Number
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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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