Details of Disease

General Information of Disease (ID: DISHEVUD)

Disease Name Usher syndrome type 2D
Synonyms Usher syndrome, type 2D; USHER syndrome, type IID; USH2D; Usher syndrome type 2D; WHRN Usher syndrome; Usher syndrome caused by mutation in WHRN; Usher syndrome type IID
Definition Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene.
Disease Hierarchy
DIS9YIS7: Usher syndrome
DIS3LO3C: Usher syndrome type 2
DISHEVUD: Usher syndrome type 2D
Disease Identifiers
MONDO ID
MONDO_0012662
MESH ID
D052245
UMLS CUI
C1568249
OMIM ID
611383
MedGen ID
292821

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WHRN OT0A9J1A Definitive Autosomal recessive [1]
CHML OTW3VW8D Limited Genetic Variation [4]
PCDH15 OTU9C2EH Limited Biomarker [5]
ADGRV1 OTLVXHHP Strong Genetic Variation [6]
ESPN OT7Z6LX2 Strong Biomarker [7]
MYO7A OTBZSPEL Strong GermlineCausalMutation [8]
PDZD7 OTX3VAOB Definitive GermlineModifyingMutation [9]
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⏷ Show the Full List of 7 DOT(s)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HCAR3 TT8WFXV Strong Genetic Variation [2]
USH2A TTVCLLA Strong Biomarker [3]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q.Hum Mol Genet. 1992 May;1(2):71-5. doi: 10.1093/hmg/1.2.71.
3 Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations.Semin Ophthalmol. 2018;33(4):560-565. doi: 10.1080/08820538.2017.1340487. Epub 2017 Jul 5.
4 Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II.Genomics. 1994 Jan 15;19(2):385-7. doi: 10.1006/geno.1994.1077.
5 Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations.J Med Chem. 2009 May 14;52(9):2836-45. doi: 10.1021/jm801640k.
6 Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV.Int J Pediatr Otorhinolaryngol. 2017 Nov;102:114-118. doi: 10.1016/j.ijporl.2017.08.012. Epub 2017 Sep 4.
7 Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II.Hum Mol Genet. 2012 Feb 1;21(3):692-710. doi: 10.1093/hmg/ddr503. Epub 2011 Nov 2.
8 Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. PLoS One. 2014 May 15;9(5):e97808. doi: 10.1371/journal.pone.0097808. eCollection 2014.
9 PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest. 2010 Jun;120(6):1812-23. doi: 10.1172/JCI39715. Epub 2010 May 3.