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 48 68
Hirschsprung Disease with Pigmentary Anomaly 48
Waardenburg-Hirschsprung Syndrome 48
Waardenburg-Hirschsprung Disease 48
 
Waardenburg Syndrome, Type 4a 68
Waardenburg-Shah Syndrome 48
Shah-Waardenburg Syndrome 48
Ws4 48

Classifications:



Summaries for Waardenburg Syndrome Type 4

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NIH Rare Diseases:48 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 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 & Phenotypes for Waardenburg Syndrome Type 4

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MGI Mouse Phenotypes related to Waardenburg Syndrome Type 4 according to GeneCards Suite gene sharing:

41
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

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:

36
Brain

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
1enteric nervous system developmentGO:00484849.9EDNRB, SOX10
2peripheral nervous system developmentGO:00074229.7EDNRB, SOX10
3vasoconstrictionGO:00423109.2EDN3, EDNRB
4vein smooth muscle contractionGO:00148269.1EDN3, EDNRB
5neural crest cell migrationGO:00017559.0EDN3, EDNRB, SOX10
6melanocyte differentiationGO:00303188.5EDN3, EDNRB, MITF, SOX10

Sources for Waardenburg Syndrome Type 4

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet