Details of Disease

General Information of Disease (ID: DISHYN3T)

Disease Name Usher syndrome type 3A
Synonyms Usher syndrome, type 3A; USHER syndrome, type IIIA; Usher syndrome, type 3; Usher syndrome type 3A; USH3A; Usher syndrome type IIIA; CLRN1 Usher syndrome; Usher syndrome caused by mutation in CLRN1
Definition Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene.
Disease Hierarchy
DIS9YIS7: Usher syndrome
DISRAL84: Usher syndrome type 3
DISHYN3T: Usher syndrome type 3A
Disease Identifiers
MONDO ID
MONDO_0010170
UMLS CUI
C5779850
OMIM ID
276902
MedGen ID
1830415

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLRN1 OT1ADI7Q Definitive Autosomal recessive [1]
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References

1 A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. Sci Rep. 2017 May 3;7(1):1411. doi: 10.1038/s41598-017-01577-8.