Details of Disease

General Information of Disease (ID: DISDMDVH)

• Disease Name: Waardenburg syndrome type 2E
• Synonyms: Waardenburg syndrome, type 2E; hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation; Ws2E, with or without neurologic involvement; Waardenburg syndrome, type 2E, with or without neurologic involvement; Waardenburg syndrome type 2E with or without neurologic involvement; WS2E; Waardenburg syndrome type 2 caused by mutation in SOX10; SOX10 Waardenburg syndrome type 2; WS2E with or without neurological involvement; Waardenburg syndrome type IIE; hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation
• Definition: Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene.
• Disease Hierarchy:
  DISVZBEV: Waardenburg syndrome type 2
  DISDMDVH: Waardenburg syndrome type 2E
• Disease Identifiers:
  MONDO ID: MONDO_0012698
  MESH ID: C536463
  UMLS CUI: C2700405
  OMIM ID: 611584
  MedGen ID: 398476

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MITF	OT6XJCZH	Limited	Biomarker	[1]
SOX10	OTF25ULQ	Definitive	Autosomal dominant	[2]

References

• [1] 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.
• [2] Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness. Am J Hum Genet. 2013 May 2;92(5):707-24. doi: 10.1016/j.ajhg.2013.03.024.