Details of Disease | DrugMAP

General Information of Disease (ID: DISVZBEV)

Disease Name	Waardenburg syndrome type 2
Synonyms	WS 2; WS type 2; Waardenburg syndrome type 2; WS2; Waardenburg syndrome type II
Definition	Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.
Disease Hierarchy	DISRU41A: Waardenburg syndrome DISVZBEV: Waardenburg syndrome type 2
Disease Identifiers	MONDO ID MONDO_0019517 MESH ID C536463 UMLS CUI C2700265 MedGen ID 398443 Orphanet ID 895 SNOMED CT ID 1010636000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KITLG	TTDJ51N	Limited	Biomarker	[1]
EDNRB	TT3ZTGU	Supportive	Autosomal dominant	[2]
KITLG	TTDJ51N	Supportive	Autosomal dominant	[1]
EDNRB	TT3ZTGU	Strong	Genetic Variation	[2]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EDN3	OTN7Q9BE	Disputed	Genetic Variation	[3]
EDNRB	OTLLZV3P	Supportive	Autosomal dominant	[2]
KITLG	OTB9AVQ4	Supportive	Autosomal dominant	[1]
SNAI2	OT7Y8EJ2	Supportive	Autosomal dominant	[4]
SOX10	OTF25ULQ	Supportive	Autosomal dominant	[5]
MITF	OT6XJCZH	Definitive	Autosomal dominant	[6]
PAX3	OTN5PJZV	Definitive	Genetic Variation	[7]
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⏷ Show the Full List of 7 DOT(s)

References

1	Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. Am J Hum Genet. 2015 Nov 5;97(5):647-60. doi: 10.1016/j.ajhg.2015.09.011. Epub 2015 Oct 29.
2	EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. Hum Mutat. 2017 May;38(5):581-593. doi: 10.1002/humu.23206. Epub 2017 Mar 15.
3	A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).Nat Genet. 1996 Apr;12(4):445-7. doi: 10.1038/ng0496-445.
4	SLUG (SNAI2) deletions in patients with Waardenburg disease. Hum Mol Genet. 2002 Dec 1;11(25):3231-6. doi: 10.1093/hmg/11.25.3231.
5	Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. Hum Mutat. 2011 Dec;32(12):1436-49. doi: 10.1002/humu.21583. Epub 2011 Sep 19.
6	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.
7	Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.Clin Genet. 2013 Jan;83(1):78-82. doi: 10.1111/j.1399-0004.2012.01853.x. Epub 2012 Mar 5.