MCID: WRD010
MIFTS: 32

Waardenburg Syndrome Type 4 malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases categories

Aliases & Classifications for Waardenburg Syndrome Type 4

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Sources:
65UMLS, 45NIH Rare Diseases, 47Novoseek
See all sources

Aliases & Descriptions for Waardenburg Syndrome Type 4:

Name: Waardenburg Syndrome Type 4 45
Shah-Waardenburg Syndrome 45 47
Hirschsprung Disease with Pigmentary Anomaly 45
Waardenburg-Hirschsprung Disease 45
 
Waardenburg Syndrome, Type 4a 65
Waardenburg-Shah Syndrome 45
Ws4 45


Classifications:



Summaries for Waardenburg Syndrome Type 4

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NIH Rare Diseases:45 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 shah-waardenburg syndrome, is related to waardenburg syndrome, type 1 and hirschsprung disease 1. An important gene associated with Waardenburg Syndrome Type 4 is SOX10 (SRY (Sex Determining Region Y)-Box 10), and among its related pathways are Endothelins and Melanocyte Development and Pigmentation. Affiliated tissues include eye, skin and brain, and related mouse phenotypes are tumorigenesis and digestive/alimentary.

Related Diseases for Waardenburg Syndrome Type 4

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Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 2a
Waardenburg Syndrome, Type 2c Waardenburg Syndrome, Type 2d
Waardenburg Syndrome, Type 4a Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4c waardenburg syndrome type 4

Diseases related to Waardenburg Syndrome Type 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1waardenburg syndrome, type 130.1EDN3, MITF, SOX10
2hirschsprung disease 129.5EDN3, EDNRB, MITF, RET, SOX10
3pcwh syndrome10.7
4waardenburg syndrome, type 4a10.5
5waardenburg syndrome, type 310.4
6waardenburg syndrome, type 2a10.4
7down syndrome10.4
8waardenburg syndrome, type 4b10.3
9waardenburg syndrome, type 4c10.3
10waardenburg's syndrome10.3
11microphthalmia10.3
12congenital hypomyelination neuropathy10.3
13neuropathy10.3
14waardenburg syndrome, type 2b10.1
15waardenburg syndrome, type 2c10.1
16waardenburg syndrome, type 2d10.1
17waardenburg syndrome, type 2e, with or without neurologic involvement10.1
18multiple endocrine neoplasia iib10.0EDNRB, RET
19multiple endocrine neoplasia iia9.9EDNRB, RET
20medullary thyroid carcinoma, familial9.9EDNRB, RET
21ocular albinism with sensorineural deafness9.9MITF, SOX10
22endothrix infectious disease9.9MITF, SOX10
23contact dermatitis9.8EDNRB, RET
24fallopian tube teratoma9.8MITF, SOX10
25central hypoventilation syndrome, congenital9.8EDN3, EDNRB, RET
26intestinal perforation9.8EDN3, EDNRB, RET
27color blindness9.6EDN3, EDNRB, RET, SOX10
28melanoma9.6EDN3, EDNRB, RET, SOX10
29intestinal obstruction9.6EDN3, EDNRB, RET, SOX10
30gastrointestinal tuberculosis9.6EDN3, EDNRB, RET, SOX10
31conjunctival intraepithelial neoplasm9.5EDN3, EDNRB, MITF, SOX10
32wagner syndrome9.3EDN3, EDNRB, MITF, RET, SOX10
33clubfoot9.3EDN3, EDNRB, MITF, RET, SOX10

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:

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.9EDNRB, RET, SOX10
2MP:00053818.6EDN3, EDNRB, RET, SOX10
3MP:00053808.6EDN3, EDNRB, RET, SOX10
4MP:00011868.5EDN3, EDNRB, MITF, SOX10
5MP:00053718.5EDNRB, MITF, RET, SOX10
6MP:00107718.2EDN3, EDNRB, MITF, SOX10
7MP:00107687.7EDN3, EDNRB, MITF, RET, SOX10
8MP:00036317.5EDN3, EDNRB, MITF, RET, SOX10
9MP:00053867.2EDN3, EDNRB, MITF, RET, SOX10

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
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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Clinvar genetic disease variations for Waardenburg Syndrome Type 4:

5
id Gene Variation 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

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 pathways (with members indented)ScoreTop Affiliating Genes
19.3EDN3, EDNRB
29.2MITF, SOX10
39.2MITF, SOX10
48.6EDNRB, MITF, RET

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:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1posterior midgut developmentGO:000749710.2EDNRB, RET
2peripheral nervous system developmentGO:000742210.0EDNRB, SOX10
3vein smooth muscle contractionGO:001482610.0EDN3, EDNRB
4vasoconstrictionGO:00423109.8EDN3, EDNRB
5response to painGO:00482659.6EDNRB, RET
6enteric nervous system developmentGO:00484849.5EDNRB, RET, SOX10
7pigmentationGO:00434739.5EDNRB, MITF
8neuron differentiationGO:00301829.3EDN3, RET
9neural crest cell migrationGO:00017558.7EDN3, EDNRB, RET, SOX10
10positive regulation of transcription, DNA-templatedGO:00458938.6MITF, RET, SOX10
11melanocyte differentiationGO:00303188.4EDN3, EDNRB, MITF, SOX10
12negative regulation of apoptotic processGO:00430668.4EDNRB, MITF, SOX10

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.2MITF, SOX10

Sources for Waardenburg Syndrome Type 4

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet