type 4 Waardenburg syndrome

An autosomal dominant or recessive form of Waardenburg Syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital SENSORINEURAL HEARING LOSS, and Hirschsprung disease. Mutations in the EDNRB gene have been identified. OMIM: 277580

Also Known As:

Waardenburg syndrome, type 4; Hirschsprung disease with pigmentary anomaly; Shah-Waardenburg syndrome; Waardenburg Syndrome With Hirschsprung Disease, Type 4a; Waardenburg Syndrome, Type 4a; Waardenburg Syndrome, Type Iva; Waardenburg-Hirschsprung disease; Waardenburg-Shah syndrome

Networked: 24 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Hypopigmentation (Hypomelanosis)
2.	Hirschsprung Disease (Hirschsprung's Disease)
3.	Megacolon
4.	Deafness (Deaf Mutism)
5.	type 4 Waardenburg syndrome

Experts

1.	Bondurand, Nadege: 2 articles (05/2010 - 07/2006)
2.	Goossens, Michel: 2 articles (05/2010 - 07/2006)
3.	Stanchina, Laure: 2 articles (05/2010 - 07/2006)
4.	Chen, Qian: 1 article (01/2021)
5.	Huang, Weijun: 1 article (01/2021)
6.	Jiang, Boxiong: 1 article (01/2021)
7.	Lai, Xingqiang: 1 article (01/2021)
8.	Li, Fugui: 1 article (01/2021)
9.	Li, Weiqiang: 1 article (01/2021)
10.	Liu, Jia: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to type 4 Waardenburg syndrome:

1.	Transcription Factors (Transcription Factor)IBA 01/01/2021 - "Animal studies have indicated that SOX10 is one of the key transcription factors regulating the proliferation, migration and differentiation of multipotent neural crest (NC), and mutation of SOX10 in humans may lead to type 4 Waardenburg syndrome (WS). " 08/07/1998 - "SOX10, a new member of the SOX gene family, is a transcription factor defective in the Dom (Dominant megacolon) mouse and in the human Shah-Waardenburg syndrome. " 05/15/2010 - "The involvement of SOX10 and ZFHX1B in Waardenburg-Hirschsprung disease (hypopigmentation, deafness, and absence of enteric ganglia) and Mowat-Wilson syndrome (mental retardation, facial dysmorphy and variable congenital malformations including Hirschsprung disease) respectively, highlighted the importance of both transcription factors during enteric nervous system (ENS) development. " 11/01/2016 - "Here, we report that the Spot mouse line - obtained through an insertional mutagenesis screen for genes involved in neural crest cell (NCC) development - is a model for Waardenburg syndrome type 4. We found that the Spot insertional mutation causes overexpression of an overlapping gene pair composed of the transcription-factor-encoding Nr2f1 and the antisense long non-coding RNA A830082K12Rik in NCCs through a mechanism involving relief of repression of these genes. "
2.	Endothelin B ReceptorIBA 02/01/2015 - "A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome." 12/01/2005 - "Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease." 01/01/2002 - "A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene." 10/01/2009 - "Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus." 09/01/2001 - "A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome."
3.	Endothelin-3 (Endothelin 3)IBA 03/01/2001 - "A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?" 04/01/1996 - "A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)." 08/01/1997 - "Type IV WS (Shah-Waardenburg syndrome with Hirschsprung disease) can be caused by mutations in the genes for endothelin-3 or one of its receptors, EDNRB. " 04/01/1996 - "Here, we describe a mutation of the human gene for endothelin 3 (EDN3), homozygously present in a patient with a combined Waardenburg syndrome type 2 (WS2) and HSCR phenotype (Shah-Waardenburg syndrome). " 07/01/2006 - "The requirement for SOX10 and endothelin-3/EDNRB signalling pathway during enteric nervous system (ENS) and melanocyte development, as well as their alterations in Waardenburg-Hirschsprung disease (hypopigmentation, deafness and absence of enteric ganglia) are well established. "
4.	Endothelin Receptors (Endothelin Receptor)IBA 04/01/1996 - "The WS-HSCR association (Shah-Waardenburg syndrome) is a rare autosomal recessive condition that occasionally has been ascribed to mutations of the endothelin-receptor B (EDNRB) gene. " 12/01/1995 - "Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease." 08/26/2011 - "Impairments of endothelin receptor B (Ednrb/EDNRB) cause the development of Waardenburg-Shah syndrome with congenital hearing loss, hypopigmentation, and megacolon disease in mice and humans. "
5.	SOXE Transcription FactorsIBA 01/15/2006 - "The transcription factor SOX10 is mutated in the human neurocristopathy Waardenburg-Shah syndrome (WS4), which is characterized by enteric aganglionosis and pigmentation defects. " 09/01/1999 - "Moreover, as mutations of the SOX10 transcription factor were previously described in Waardenburg-Hirschsprung disease, these results show that SOX10 mutations cause various types of neurocristopathy."
6.	Long Noncoding RNAIBA 11/01/2016 - "Here, we report that the Spot mouse line - obtained through an insertional mutagenesis screen for genes involved in neural crest cell (NCC) development - is a model for Waardenburg syndrome type 4. We found that the Spot insertional mutation causes overexpression of an overlapping gene pair composed of the transcription-factor-encoding Nr2f1 and the antisense long non-coding RNA A830082K12Rik in NCCs through a mechanism involving relief of repression of these genes. "
7.	Microphthalmia-Associated Transcription FactorIBA 10/06/2000 - "Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10."
8.	Nonsense Codon (Nonsense Mutation)IBA 11/05/1999 - "Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease."
9.	DNA (Deoxyribonucleic Acid)IBA 03/15/2002 - "Therefore, we screened DNA of the index patient of the ABCD syndrome family for mutations in the endothelin B receptor (EDNRB) gene, a gene known to be involved in Shah-Waardenburg syndrome. "
10.	AntigensIBA 06/01/2002 - "The Waardenburg syndrome type 4 gene, SOX10, is a novel tumor-associated antigen identified in a patient with a dramatic response to immunotherapy."

Therapies and Procedures

1.	Immunotherapy 06/01/2002 - "The Waardenburg syndrome type 4 gene, SOX10, is a novel tumor-associated antigen identified in a patient with a dramatic response to immunotherapy."
2.	Colectomy 06/15/2018 - "We herein present a 4 year-old boy with Waardenburg-Shah syndrome who developed Jacquet erosive diaper dermatitis following a total colectomy and ileoanal anastomosis procedure for Hirschsprung disease. "