Details of Disease

General Information of Disease (ID: DIS4U70X)

Disease Name Usher syndrome type 1C
Synonyms
Usher syndrome, Acadian variety; Usher syndrome, type 1C; Usher syndrome, type I, Acadian variety; USHER syndrome, type IC; USH1C; Usher syndrome type I Acadian variety; Usher syndrome type IC; Usher syndrome type 1C
Definition A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner.
Disease Hierarchy
DISR29E4: Usher syndrome type 1
DIS4U70X: Usher syndrome type 1C
Disease Identifiers
MONDO ID
MONDO_0010171
MESH ID
C564753
UMLS CUI
C1848604
OMIM ID
276904
MedGen ID
338506

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
USH1C OTFB6V34 Definitive Autosomal recessive [1]
CLRN1 OT1ADI7Q Disputed Biomarker [2]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome.J Clin Invest. 2018 Aug 1;128(8):3382-3401. doi: 10.1172/JCI94351. Epub 2018 Jul 9.