Details of Disease | DrugMAP

General Information of Disease (ID: DISM4IVI)

Disease Name	Waardenburg syndrome type 2A
Synonyms	Waardenburg syndrome, type 2A; Waardenburg syndrome without dystopia canthorum; Ws2; Waardenburg syndrome type 2 caused by mutation in MITF; Waardenburg syndrome type 2A; Waardenburg syndrome type IIA; WS2A; MITF Waardenburg syndrome type 2
Definition	Waardenburg syndrome Type 2 caused by mutations in the MITF gene.
Disease Hierarchy	DISVZBEV: Waardenburg syndrome type 2 DISM4IVI: Waardenburg syndrome type 2A
Disease Identifiers	MONDO ID MONDO_0008671 MESH ID C536464 UMLS CUI C1860339 OMIM ID 193510 MedGen ID 349786

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POLR2F	OTF9T8I2	Limited	Genetic Variation	[1]
CISD2	OTVS7S2H	Strong	Genetic Variation	[2]
SOX10	OTF25ULQ	Strong	Genetic Variation	[3]
MITF	OT6XJCZH	Definitive	Autosomal dominant	[4]
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References

1	Waardenburg syndrome: Novel mutations in a large Brazilian sample.Eur J Med Genet. 2018 Jun;61(6):348-354. doi: 10.1016/j.ejmg.2018.01.012. Epub 2018 Jan 31.
2	Correction: Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease.Pediatr Res. 2018 Nov;84(5):787. doi: 10.1038/s41390-018-0146-1.
3	A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome typeII.Mol Med Rep. 2019 Mar;19(3):1775-1780. doi: 10.3892/mmr.2019.9815. Epub 2019 Jan 3.
4	Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum Mol Genet. 1997 May;6(5):659-64. doi: 10.1093/hmg/6.5.659.