WS4
MCID: WRD010
MIFTS: 33

Waardenburg Syndrome Type 4 (WS4) malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Gastrointestinal diseases categories
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Summaries for Waardenburg Syndrome Type 4

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Waardenburg syndrome type 4, also known as waardenburg-shah syndrome, is a genetic condition that can cause hearing loss; changes in coloring (pigmentation) of the hair, skin, and eyes; and hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. waardenburg syndrome type 4 is further divided into types 4a, 4b, and 4c based on their genetic cause. type 4a is caused by mutations in the ednrb gene, mutations in edn3 cause 4b, and mutations in sox10 cause type 4c. this condition is usually inherited in an autosomal dominant fashion; however, some cases of type 4 appear to have an autosomal recessive pattern of inheritance. last updated: 4/18/2011

MalaCards: Waardenburg Syndrome Type 4, also known as shah-waardenburg syndrome, is related to hirschsprung's disease and waardenburg's syndrome. An important gene associated with Waardenburg Syndrome Type 4 is SOX10 (SRY (sex determining region Y)-box 10). Affiliated tissues include eye, skin and brain, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Aliases & Classifications for Waardenburg Syndrome Type 4

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43NIH Rare Diseases, 45Novoseek, 62UMLS
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Classifications:



Aliases & Descriptions:

waardenburg syndrome type 4 43
shah-waardenburg syndrome 43 45
hirschsprung disease with pigmentary anomaly 43
waardenburg-hirschsprung disease 43
waardenburg syndrome, type 4a 62
waardenburg syndrome, type i 62
waardenburg-shah syndrome 43
ws4 43


Related Diseases for Waardenburg Syndrome Type 4

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Waardenburg Syndrome Type 4:



Diseases related to waardenburg syndrome type 4

Symptoms for Waardenburg Syndrome Type 4

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Drugs & Therapeutics for Waardenburg Syndrome Type 4

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Genetic Tests for Waardenburg Syndrome Type 4

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Anatomical Context for Waardenburg Syndrome Type 4

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33MalaCards
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MalaCards organs/tissues related to Waardenburg Syndrome Type 4:

33
Eye, Skin, Brain

Animal Models for Waardenburg Syndrome Type 4 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Waardenburg Syndrome Type 4:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3SOX10, EDNRB
2MP:00053719.3SOX10, EDNRB
3MP:00020069.2SOX10, EDNRB
4MP:00053829.2SOX10, EDNRB
5MP:00053889.1EDNRB, SOX10
6MP:00053809.1SOX10, EDNRB
7MP:00053819.0SOX10, EDNRB
8MP:00107718.8SOX10, EDNRB

Publications for Waardenburg Syndrome Type 4

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52PubMed
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Articles related to Waardenburg Syndrome Type 4:

idTitleAuthorsYear
1
Waardenburg syndrome type 4: Report of two new cases caused by SOX10 mutations in Spain. (24311220)
2014
2
Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4. (22378281)
2012
3
A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene. (11773966)
2002
4
The Waardenburg syndrome type 4 gene, SOX10, is a novel tumor-associated antigen identified in a patient with a dramatic response to immunotherapy. (12036907)
2002
5
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. (10762540)
2000
6
Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. (10938265)
2000

Variations for Waardenburg Syndrome Type 4

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Waardenburg Syndrome Type 4:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_000115.3(EDNRB): c.828G> T (p.Trp276Cys)single nucleotide variantPathogenic, risk factorrs104894387GRCh37Chr 13, 78475316: 78475316
2NM_000115.3(EDNRB): c.548C> G (p.Ala183Gly)single nucleotide variantPathogenicrs104894388GRCh37Chr 13, 78477678: 78477678
3NM_000115.3(EDNRB): c.757C> T (p.Arg253Ter)single nucleotide variantPathogenicrs104894390GRCh37Chr 13, 78477335: 78477335
4PAX3NM_181457.3(PAX3): c.238C> G (p.His80Asp)single nucleotide variantPathogenicrs387906947GRCh37Chr 2, 223161780: 223161780
5PAX3NM_181457.3(PAX3): c.149C> T (p.Pro50Leu)single nucleotide variantPathogenicrs104893650GRCh37Chr 2, 223161869: 223161869
6PAX3NM_181457.3(PAX3): c.251C> T (p.Ser84Phe)single nucleotide variantPathogenicrs104893651GRCh37Chr 2, 223161767: 223161767
7PAX3NM_181457.3(PAX3): c.167G> T (p.Arg56Leu)single nucleotide variantPathogenicrs267606931GRCh37Chr 2, 223161851: 223161851

Expression for genes affiliated with Waardenburg Syndrome Type 4

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Waardenburg Syndrome Type 4

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Pathways for genes affiliated with Waardenburg Syndrome Type 4

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Compounds for genes affiliated with Waardenburg Syndrome Type 4

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GO Terms for genes affiliated with Waardenburg Syndrome Type 4

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16Gene Ontology
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Biological processes related to Waardenburg Syndrome Type 4 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1enteric nervous system developmentGO:0484849.2SOX10, EDNRB
2melanocyte differentiationGO:0303189.1SOX10, EDNRB
3negative regulation of apoptotic processGO:0430669.1SOX10, EDNRB
4peripheral nervous system developmentGO:0074229.0EDNRB, SOX10
5neural crest cell migrationGO:0017558.8SOX10, EDNRB

Products for genes affiliated with Waardenburg Syndrome Type 4

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Sources for Waardenburg Syndrome Type 4

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet