Details of Disease | DrugMAP

General Information of Disease (ID: DIS4JF16)

Disease Name	Waardenburg syndrome type 3
Synonyms	White forelock (poliosis) syndrome with multiple congenital malformations; Waardenburg syndrome, type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with upper limb anomalies; Waardenburg syndrome with limb anomalies
Definition	Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.
Disease Hierarchy	DISRU41A: Waardenburg syndrome DIS4JF16: Waardenburg syndrome type 3
Disease Identifiers	MONDO ID MONDO_0007862 MESH ID D014849 UMLS CUI C0079661 OMIM ID 148820 MedGen ID 86948 Orphanet ID 896 SNOMED CT ID 237918004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SNAI2	OT7Y8EJ2	Limited	Biomarker	[1]
PAX3	OTN5PJZV	Strong	Autosomal recessive	[2]
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References

1	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.
2	Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. Am J Med Genet A. 2003 Sep 15;122A(1):42-5. doi: 10.1002/ajmg.a.20260.