Details of Disease | DrugMAP

General Information of Disease (ID: DIS3LO3C)

Disease Name	Usher syndrome type 2
Synonyms	Usher syndrome type 2; USH2
Definition	A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa.
Disease Hierarchy	DIS9YIS7: Usher syndrome DIS3LO3C: Usher syndrome type 2
Disease Identifiers	MONDO ID MONDO_0016484 UMLS CUI C0339534 MedGen ID 83288 Orphanet ID 231178 SNOMED CT ID 232058008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WHRN	OT0A9J1A	Supportive	Autosomal recessive	[1]
USH2A	OT6QRP86	Definitive	Autosomal recessive	[2]
CHML	OTW3VW8D	Limited	Biomarker	[4]
MYO7A	OTBZSPEL	Supportive	Autosomal recessive	[5]
PDZD7	OTX3VAOB	Strong	Biomarker	[6]
ADGRV1	OTLVXHHP	Definitive	Autosomal recessive	[2]
------------------------------------------------------------------------------------


⏷ Show the Full List of 6 DOT(s)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
USH2A	TTVCLLA	Definitive	Autosomal recessive	[2]
USH2A	TTVCLLA	Definitive	Genetic Variation	[3]
------------------------------------------------------------------------------------

References

1	Usher Syndrome Type II. 1999 Dec 10 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2	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.
3	Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2.Stem Cell Res. 2018 Dec;33:247-250. doi: 10.1016/j.scr.2018.11.007. Epub 2018 Nov 16.
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	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.
6	Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans.Int J Mol Sci. 2019 Aug 26;20(17):4174. doi: 10.3390/ijms20174174.