Details of Disease

General Information of Disease (ID: DISSMGSQ)

Disease Name Waardenburg syndrome type 4A
Synonyms
Shah-Waardenburg syndrome; Waardenburg syndrome with Hirschsprung disease, type 4A; Waardenburg syndrome, type 4A; Waardenburg-Shah syndrome; Ws4; Waardenburg syndrome type 4A; EDNRB Waardenburg syndrome; WS4A; Waardenburg syndrome caused by mutation in EDNRB; Waardenburg syndrome with Hirschsprung disease type 4A; Waardenburg syndrome type IVA
Definition A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB.
Disease Hierarchy
DISR8C6R: Waardenburg-Shah syndrome
DISRU41A: Waardenburg syndrome
DISSMGSQ: Waardenburg syndrome type 4A
Disease Identifiers
MONDO ID
MONDO_0010192
MESH ID
C536467
UMLS CUI
C1848519
OMIM ID
277580
MedGen ID
341244
SNOMED CT ID
715952000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
EDNRB TT3ZTGU moderate Biomarker [1]
EDNRB TT3ZTGU Strong Autosomal dominant [2]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SOX8 OTEJXYZM moderate Biomarker [3]
ADGRV1 OTLVXHHP Strong Genetic Variation [4]
EDN3 OTN7Q9BE Strong Genetic Variation [5]
EDNRB OTLLZV3P Strong Autosomal dominant [2]
MITF OT6XJCZH Strong GermlineCausalMutation [6]
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References

1 Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1.Auris Nasus Larynx. 2018 Apr;45(2):222-226. doi: 10.1016/j.anl.2017.03.022. Epub 2017 May 11.
2 PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.
3 The SOXE transcription factors-SOX8, SOX9and SOX10-share a bi-partite transactivation mechanism.Nucleic Acids Res. 2019 Jul 26;47(13):6917-6931. doi: 10.1093/nar/gkz523.
4 Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV.Int J Pediatr Otorhinolaryngol. 2017 Nov;102:114-118. doi: 10.1016/j.ijporl.2017.08.012. Epub 2017 Sep 4.
5 Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome.Biochem Biophys Res Commun. 2011 May 20;408(4):620-4. doi: 10.1016/j.bbrc.2011.04.072. Epub 2011 Apr 21.
6 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.