Usher Syndrome, Type I (USH1)

Alias:
Usher Syndrome Type 1
Ush1
Usher Syndrome, Type Ib
Usher Syndrome Type 1e
Usher Syndrome, Type Ie
Usher Syndrome, Type 1b
Usher Syndrome, Type 1e
Usher Syndrome Type 1b
Ush1e
Us1
Retinitis Pigmentosa and Congenital Deafness
Usher's Syndrome Type 1b
Usher Syndrome Type Ie
Usher Syndrome Type Ib
Usher Syndrome Type I
Usher Syndrome 1b
Usher 1
Ush1b
Ushib
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Usher Syndrome, Type I, also known as usher syndrome type 1, is related to usher syndrome, type ic and usher syndrome, type id, and has symptoms including unspecified visual loss An important gene associated with Usher Syndrome, Type I is MYO7A (Myosin VIIA), and among its related pathways/superpathways are Olfactory Signaling Pathway and Sensory processing of sound. Affiliated tissues include eye and retina, and related phenotypes are intellectual disability and ataxia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/100000
79
697
176

Medical Symptom

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

Gene & Mutation

#
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
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