Usher Syndrome (USH)

Alias:
Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome
Graefe-Usher Syndrome
Ush
Deafness-Retinitis Pigmentosa Syndrome
Hallgren Syndrome
Usher's Syndrome
Usher Syndromes
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Usher Syndrome, also known as retinitis pigmentosa-deafness syndrome, is related to usher syndrome, type i and usher syndrome, type iia, and has symptoms including coughing, snoring and tinnitus. An important gene associated with Usher Syndrome is USH2A (Usherin), and among its related pathways/superpathways are Olfactory Signaling Pathway and Ciliary landscape. The drug Omega 3 Fatty Acid has been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are sensorineural hearing impairment and visual impairment
Related ID:
MESH:D052245
ICD11:1452641873

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/100000
150
1323
256

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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