Details of Disease

General Information of Disease (ID: DISNK779)

Disease Name Usher syndrome type 1D
Synonyms
Ush1D/F, Cdh23/Pcdh15, digenic; USHER syndrome, type ID; Usher syndrome, type Id/F, Cdh23/Pcdh15, digenic; Usher syndrome, type 1D; Usher syndrome type 1D; Usher syndrome type ID; USH1D; Usher syndrome, type 1D/F digenic
Definition
A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner.
Disease Hierarchy
DISR29E4: Usher syndrome type 1
DISNK779: Usher syndrome type 1D
Disease Identifiers
MONDO ID
MONDO_0010984
UMLS CUI
C1832845
OMIM ID
601067
MedGen ID
322051

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PCDH15 OTU9C2EH Strong CausalMutation [1]
CDH23 OTOJGQ7S Definitive Autosomal recessive [2]
GSTT2 OTANW3TJ Definitive Genetic Variation [3]
------------------------------------------------------------------------------------

References

1 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.Ophthalmology. 2016 May;123(5):1143-50. doi: 10.1016/j.ophtha.2016.01.009. Epub 2016 Feb 9.
2 Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet. 2001 Jan;68(1):26-37. doi: 10.1086/316954. Epub 2000 Nov 21.
3 Fine genetic and comparative mapping of the deafness mutation Ames waltzer on mouse chromosome 10.Genomics. 1998 Jun 1;50(2):260-6. doi: 10.1006/geno.1998.5298.