Details of Disease

General Information of Disease (ID: DIS8DBQ5)

Disease Name Waardenburg syndrome type 1
Synonyms Waardenburg syndrome with dystopia canthorum; Waardenburg's syndrome type 1; Waardenburg syndrome, type 1; Waardenburg syndrome type I; Waardenburg syndrome type 1; WS1
Definition
Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.
Disease Hierarchy
DISRU41A: Waardenburg syndrome
DIS8DBQ5: Waardenburg syndrome type 1
Disease Identifiers
MONDO ID
MONDO_0008670
MESH ID
D014849
UMLS CUI
C1847800
OMIM ID
193500
MedGen ID
376211
Orphanet ID
894
SNOMED CT ID
1010606009

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
SNAI2 OT7Y8EJ2 Limited Biomarker [1]
CISD2 OTVS7S2H Definitive Biomarker [2]
EYA4 OTINGR3Z Definitive Genetic Variation [3]
PAX3 OTN5PJZV Definitive Autosomal dominant [4]
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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 Wolfram syndrome 1 and Wolfram syndrome 2.Curr Opin Pediatr. 2012 Aug;24(4):512-7. doi: 10.1097/MOP.0b013e328354ccdf.
3 A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.Int J Pediatr Otorhinolaryngol. 2018 Jan;104:88-93. doi: 10.1016/j.ijporl.2017.10.042. Epub 2017 Oct 31.
4 Waardenburg I syndrome: a clinical and genetic study of two large Brazilian kindreds, and literature review. Am J Med Genet. 1991 Jul 1;40(1):65-74. doi: 10.1002/ajmg.1320400113.