WS4
MCID: WRD010
MIFTS: 39

Waardenburg Syndrome Type 4 (WS4) malady

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

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NIH Rare Diseases:42 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 based summary: Waardenburg Syndrome Type 4, also known as hirschsprung disease with pigmentary anomaly, is related to hirschsprung's disease and waardenburg's syndrome. An important gene associated with Waardenburg Syndrome Type 4 is GATA3 (GATA binding protein 3), and among its related pathways are Neural Crest Differentiation and Transcription factors in neurogenesis. The compound tyrosine have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and brain, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Aliases & Classifications for Waardenburg Syndrome Type 4

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Sources:
42NIH Rare Diseases, 62UMLS, 44Novoseek
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Waardenburg Syndrome Type 4, Aliases & Descriptions:

Name: Waardenburg Syndrome Type 4 42
Hirschsprung Disease with Pigmentary Anomaly 42 62
Waardenburg-Hirschsprung Disease 42 62
Shah-Waardenburg Syndrome 42 44
 
Waardenburg Syndrome, Type 4a 62
Waardenburg Syndrome, Type I 62
Waardenburg-Shah Syndrome 42
Ws4 42


Classifications:



Related Diseases for Waardenburg Syndrome Type 4

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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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Drug clinical trials:

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Search NIH Clinical Center for Waardenburg Syndrome Type 4

Genetic Tests for Waardenburg Syndrome Type 4

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Anatomical Context for Waardenburg Syndrome Type 4

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MalaCards organs/tissues related to Waardenburg Syndrome Type 4:

32
Eye, Skin, Brain

Animal Models for Waardenburg Syndrome Type 4 or affiliated genes

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Publications for Waardenburg Syndrome Type 4

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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
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. (10762540)
2000
5
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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Clinvar genetic disease variations for Waardenburg Syndrome Type 4:

6
id Gene Name Type Significance SNP ID Assembly Location
1NM_000115.3(EDNRB): c.828G> T (p.Trp276Cys)single nucleotide variantPathogenicrs104894387GRCh37Chr 13, 78475316: 78475316
2PAX3NM_181457.3(PAX3): c.238C> G (p.His80Asp)single nucleotide variantPathogenicrs387906947GRCh37Chr 2, 223161780: 223161780
3PAX3NM_181457.3(PAX3): c.149C> T (p.Pro50Leu)single nucleotide variantPathogenicrs104893650GRCh37Chr 2, 223161869: 223161869
4PAX3NM_181457.3(PAX3): c.251C> T (p.Ser84Phe)single nucleotide variantPathogenicrs104893651GRCh37Chr 2, 223161767: 223161767
5PAX3NM_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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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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Pathways related to Waardenburg Syndrome Type 4 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0PAX3, SOX10
29.0PAX3, SOX10
39.0PAX3, SOX10

Compounds for genes affiliated with Waardenburg Syndrome Type 4

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Sources:
44Novoseek
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Compounds related to Waardenburg Syndrome Type 4 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tyrosine448.8GATA3, PAX3, EDNRB

GO Terms for genes affiliated with Waardenburg Syndrome Type 4

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1enteric nervous system developmentGO:0484849.3EDNRB, SOX10
2positive regulation of cell proliferationGO:0082849.3PAX3, EDNRB
3developmental growthGO:0485899.3SOX10, GATA3
4melanocyte differentiationGO:0303189.3SOX10, EDNRB
5peripheral nervous system developmentGO:0074229.2EDNRB, SOX10
6cell maturationGO:0484699.2SOX10, GATA3
7anatomical structure morphogenesisGO:0096539.1GATA3, SOX10
8transcription from RNA polymerase II promoterGO:0063669.0PAX3, GATA3
9in utero embryonic developmentGO:0017019.0GATA3, SOX10
10neural crest cell migrationGO:0017558.7PAX3, SOX10, EDNRB

Molecular functions related to Waardenburg Syndrome Type 4 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1HMG box domain bindingGO:0718379.4GATA3, PAX3
2transcription coactivator activityGO:0037139.1GATA3, SOX10
3RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.1PAX3, SOX10
4transcription factor bindingGO:0081349.0SOX10, GATA3
5chromatin bindingGO:0036828.7PAX3, SOX10
6protein bindingGO:0055158.0GATA3, PAX3, SOX10, EDNRB

Products for genes affiliated with Waardenburg Syndrome Type 4

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Sources for Waardenburg Syndrome Type 4

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet