Details of Disease

General Information of Disease (ID: DISR8C6R)

• Disease Name: Waardenburg-Shah syndrome
• Synonyms: Waardenburg-Hirschsprung disease; Hirschsprung disease with pigmentary anomaly; Shah-Waardenburg syndrome; Waardenburg-Hirschsprung syndrome; Waardenburg syndrome type IV; WS4; Waardenburg-Shah syndrome; Waardenburg syndrome type 4
• Definition: Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease.
• Disease Hierarchy:
  DISRU41A: Waardenburg syndrome
  DIS2IQBH: Neurocristopathy
  DISBI73X: Intestinal motility disease
  DISR8C6R: Waardenburg-Shah syndrome

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EDNRB	TT3ZTGU	Supportive	Autosomal dominant	[1]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EDN3	OTN7Q9BE	Supportive	Autosomal dominant	[2]
EDNRB	OTLLZV3P	Supportive	Autosomal dominant	[1]
MITF	OT6XJCZH	Supportive	Autosomal dominant	[3]
SOX10	OTF25ULQ	Supportive	Autosomal dominant	[4]

References

• [1] Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
• [2] Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV. Am J Med Genet A. 2009 Oct;149A(10):2296-302. doi: 10.1002/ajmg.a.33026.
• [3] De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. Am J Hum Genet. 2019 Feb 7;104(2):203-212. doi: 10.1016/j.ajhg.2018.12.008. Epub 2019 Jan 3.
• [4] Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4. Eur J Hum Genet. 2012 Sep;20(9):990-4. doi: 10.1038/ejhg.2012.29. Epub 2012 Feb 29.