MCID: WRD010
MIFTS: 27

Waardenburg Syndrome Type 4 malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Waardenburg Syndrome Type 4

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Aliases & Descriptions for Waardenburg Syndrome Type 4:

Name: Waardenburg Syndrome Type 4 47 67
Hirschsprung Disease with Pigmentary Anomaly 47
Waardenburg-Hirschsprung Syndrome 47
Waardenburg-Hirschsprung Disease 47
 
Waardenburg Syndrome, Type 4a 67
Waardenburg-Shah Syndrome 47
Shah-Waardenburg Syndrome 47
Ws4 47

Classifications:



Summaries for Waardenburg Syndrome Type 4

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MalaCards based summary: Waardenburg Syndrome Type 4, also known as hirschsprung disease with pigmentary anomaly, is related to pcwh syndrome and waardenburg syndrome, type 4a. An important gene associated with Waardenburg Syndrome Type 4 is EDNRB (Endothelin Receptor Type B), and among its related pathways are Melanocyte Development and Pigmentation and Neural Crest Differentiation. Affiliated tissues include brain, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

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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Interventional clinical trials:

Search ClinicalTrials, 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:

35
Brain

Animal Models for Waardenburg Syndrome Type 4 or affiliated genes

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MGI Mouse Phenotypes related to Waardenburg Syndrome Type 4:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.6EDNRB, MITF, SOX10
2MP:00053819.3EDN3, EDNRB, SOX10
3MP:00053868.8EDN3, EDNRB, MITF, SOX10
4MP:00053808.8EDN3, EDNRB, MITF, SOX10
5MP:00107718.8EDN3, EDNRB, MITF, SOX10
6MP:00036318.6EDN3, EDNRB, MITF, SOX10
7MP:00011868.0EDN3, EDNRB, MITF, SOX10

Publications for Waardenburg Syndrome Type 4

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Articles related to Waardenburg Syndrome Type 4:

idTitleAuthorsYear
1
Upregulation of Nr2f1-A830082K12Rik gene pair in murine neural crest cells results in a complex phenotype reminiscent of waardenburg syndrome type 4. (27585883)
2016
2
Waardenburg syndrome type 4: Report of two new cases caused by SOX10 mutations in Spain. (24311220)
2014
3
Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4. (22378281)
2012
4
A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene. (11773966)
2002
5
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
6
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. (10762540)
2000
7
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EDNRBNM_000115.4(EDNRB): c.828G> T (p.Trp276Cys)SNVPathogenic, risk factorrs104894387GRCh37Chr 13, 78475316: 78475316

Expression for genes affiliated with Waardenburg Syndrome Type 4

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Search GEO for disease gene expression data for Waardenburg Syndrome Type 4.

Pathways for genes affiliated with Waardenburg Syndrome Type 4

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Pathways related to Waardenburg Syndrome Type 4 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3MITF, SOX10
29.3MITF, SOX10
39.1EDN3, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1vein smooth muscle contractionGO:00148269.7EDN3, EDNRB
2enteric nervous system developmentGO:00484849.6EDNRB, SOX10
3vasoconstrictionGO:00423109.1EDN3, EDNRB
4peripheral nervous system developmentGO:00074229.0EDNRB, SOX10
5neural crest cell migrationGO:00017558.5EDN3, EDNRB, SOX10
6melanocyte differentiationGO:00303187.9EDN3, EDNRB, MITF, SOX10

Sources for Waardenburg Syndrome Type 4

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet