Details of Disease

General Information of Disease (ID: DISRU41A)

• Disease Name: Waardenburg syndrome
• Synonyms: Mende syndrome; Van der Hoeve Halbertsma Waardenburg Gualdi syndrome; Waardenburg, types I and/or II; van der Hoeve Halbertsona Waardenburg syndrome; Waardenburg's syndrome; Waardenburg Shah syndrome; Waardenburg syndrome
• Definition: A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
  DIS3HIWD: Autosomal dominant disease
  DISRU41A: Waardenburg syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0018094
  MESH ID: D014849
  UMLS CUI: C3266898
  MedGen ID: 473809
  Orphanet ID: 3440
  SNOMED CT ID: 47434006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SNAI2	OT7Y8EJ2	Limited	Autosomal recessive	[1]
EDN3	OTN7Q9BE	Strong	Biomarker	[2]
ONECUT2	OTHUE5YY	Strong	Altered Expression	[3]
PAX3	OTN5PJZV	Definitive	Autosomal dominant	[1]

References

• [1] 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.
• [2] The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families.Int J Pediatr Otorhinolaryngol. 2020 Mar;130:109806. doi: 10.1016/j.ijporl.2019.109806. Epub 2019 Nov 29.
• [3] The transcription factor onecut-2 controls the microphthalmia-associated transcription factor gene.Biochem Biophys Res Commun. 2001 Aug 3;285(5):1200-5. doi: 10.1006/bbrc.2001.5294.