WS4
MCID: WRD010
MIFTS: 36

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

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 PAX3 (paired box 3), and among its related pathways are Neural Crest Differentiation and Transcription factors in neurogenesis. Affiliated tissues include eye, skin and brain, and related mouse phenotypes are hearing/vestibular/ear and pigmentation.

Aliases & Classifications for Waardenburg Syndrome Type 4

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Sources:
42NIH Rare Diseases, 61UMLS, 44Novoseek
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Waardenburg Syndrome Type 4, Aliases & Descriptions:

Name: Waardenburg Syndrome Type 4 42
Hirschsprung Disease with Pigmentary Anomaly 42 61
Waardenburg-Hirschsprung Disease 42 61
Shah-Waardenburg Syndrome 42 44
 
Waardenburg Syndrome, Type 4a 61
Waardenburg Syndrome, Type I 61
Waardenburg-Shah Syndrome 42
Ws4 42


Classifications:



Related Diseases for Waardenburg Syndrome Type 4

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Graphical network of the top 20 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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MGI Mouse Phenotypes related to Waardenburg Syndrome Type 4:

36 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3PAX3, EDNRB
2MP:00011868.8SOX10, PAX3, EDNRB
3MP:00053718.8SOX10, PAX3, EDNRB
4MP:00020068.8PAX3, SOX10, EDNRB
5MP:00053828.7EDNRB, SOX10, PAX3
6MP:00053888.7SOX10, PAX3, EDNRB
7MP:00053818.7PAX3, EDNRB, SOX10
8MP:00107718.7SOX10, EDNRB, PAX3
9MP:00053808.7PAX3, SOX10, EDNRB
10MP:00053868.6PAX3, SOX10, EDNRB
11MP:00053848.6EDNRB, SOX10, PAX3
12MP:00036318.5SOX10, EDNRB, PAX3
13MP:00053788.4SOX10, EDNRB, PAX3
14MP:00053768.2PAX3, SOX10, EDNRB

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:

7
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
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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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 7)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of transcription from RNA polymerase II promoterGO:0001229.3EDNRB, PAX3
2enteric nervous system developmentGO:0484849.2EDNRB, SOX10
3positive regulation of cell proliferationGO:0082849.2EDNRB, PAX3
4melanocyte differentiationGO:0303189.2EDNRB, SOX10
5peripheral nervous system developmentGO:0074229.1SOX10, EDNRB
6negative regulation of apoptotic processGO:0430668.8SOX10, EDNRB
7neural crest cell migrationGO:0017558.7PAX3, SOX10, EDNRB

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

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:0036829.0PAX3, SOX10
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037058.7PAX3, SOX10

Products for genes affiliated with Waardenburg Syndrome Type 4

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Sources for Waardenburg Syndrome Type 4

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet