MCID: WRD010
MIFTS: 30

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 46 66
Hirschsprung Disease with Pigmentary Anomaly 46
Waardenburg-Hirschsprung Disease 46
Waardenburg Syndrome, Type 4a 66
 
Shah-Waardenburg Syndrome 46
Waardenburg-Shah Syndrome 46
Ws4 46

Classifications:



Summaries for Waardenburg Syndrome Type 4

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NIH Rare Diseases:46 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's syndrome. An important gene associated with Waardenburg Syndrome Type 4 is SOX10 (SRY-Box 10), and among its related pathways are Melanocyte Development and Pigmentation and Neural Crest Differentiation. Affiliated tissues include eye, skin and brain, and related mouse phenotypes are limbs/digits/tail 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 25)
idRelated DiseaseScoreTop Affiliating Genes
1pcwh syndrome11.8
2waardenburg's syndrome11.6
3waardenburg syndrome, type 4a10.3
4congenital hypomyelination neuropathy10.1
5neuropathy10.1
6waardenburg syndrome, type 4b10.1
7waardenburg syndrome, type 4c10.1
8charcot-marie-tooth neuropathy, x-linked recessive, 210.0MITF, SOX10
9leukemoid reaction10.0MITF, SOX10
10microphthalmia9.9
11placental insufficiency9.8EDNRB, SOX10
12pulmonary immaturity9.7MITF, SOX10
13nonsyndromic congenital nail disorder 29.5EDN3, EDNRB
14shprintzen-goldberg syndrome9.4EDN3, EDNRB
15postgastrectomy syndrome9.4EDN3, EDNRB
16waardenburg syndrome, type 19.3EDN3, MITF, SOX10
17dyschromatosis symmetrica hereditaria9.2EDN3, MITF, SOX10
18pulmonary coin lesion9.1EDN3, EDNRB, SOX10
19hirschsprung disease 19.1EDN3, EDNRB
20gnathomiasis9.1EDN3, EDNRB, SOX10
21hirschsprung nail hypoplasia dysmorphism8.7EDN3, EDNRB, MITF, SOX10
22diabetes mellitus, noninsulin-dependent, 58.7EDN3, EDNRB, MITF, SOX10
23conjunctival cancer8.7EDN3, EDNRB, MITF, SOX10
24homocystinuria8.7EDN3, EDNRB, MITF, SOX10
25chronic infections, due to mbl deficiency8.7EDN3, EDNRB, MITF, 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:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.8EDNRB, MITF, SOX10
2MP:00053818.7EDN3, EDNRB, SOX10
3MP:00107718.4EDN3, EDNRB, MITF, SOX10
4MP:00011868.3EDN3, EDNRB, MITF, SOX10
5MP:00053808.2EDN3, EDNRB, MITF, SOX10
6MP:00036317.9EDN3, EDNRB, MITF, SOX10
7MP:00053867.7EDN3, 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
1NM_000115.3(EDNRB): c.828G> T (p.Trp276Cys)single nucleotide variantPathogenic, 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
19.4MITF, SOX10
29.4MITF, SOX10
39.0EDN3, 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:00484849.6EDNRB, SOX10
2vein smooth muscle contractionGO:00148269.6EDN3, EDNRB
3vasoconstrictionGO:00423109.0EDN3, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet