WS4
MCID: WRD010
MIFTS: 29

Waardenburg Syndrome Type 4 (WS4) 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 SOX10 (SRY-Box 10), and among its related pathways are Endothelins and Neural Crest Differentiation. Affiliated tissues include eye, skin and brain, and related mouse phenotypes are embryo and integument.

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 syndrome11.9
2waardenburg syndrome, type 4a11.2
3waardenburg syndrome, type 4b10.9
4waardenburg syndrome, type 4c10.9
5deafness, mitochondrial, modifier of10.0EDNRB, SOX10
6epiphyseal dysplasia, multiple, 310.0EDN3, EDNRB
7apocrine adenoma10.0EDNRB, SOX10
8congenital hypomyelination neuropathy10.0
9neuropathy10.0
10charcot-marie-tooth neuropathy, x-linked recessive, 29.9MITF, SOX10
11shprintzen-goldberg syndrome9.9EDN3, EDNRB
12verrucous papilloma9.9MITF, SOX10
13ariboflavinosis9.9EDN3, EDNRB
14progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 39.9MITF, SOX10
15skin pilomatrix carcinoma9.8EDN3, EDNRB, SOX10
16spinal meningioma9.8EDN3, EDNRB, SOX10
17chronic infections, due to mbl deficiency9.8EDN3, EDNRB
18microphthalmia9.8
19waardenburg syndrome, type 39.8EDN3, MITF, SOX10
20aicardi-goutieres syndrome 69.7EDN3, MITF, SOX10
21ceroid lipofuscinosis, neuronal, 59.5EDN3, EDNRB, MITF, SOX10
22cervical adenofibroma9.5EDN3, EDNRB, MITF, SOX10
23myopathy of extraocular muscle9.5EDN3, EDNRB, MITF, SOX10
24tooth agenesis, selective, 59.5EDN3, EDNRB, MITF, SOX10
25wdha syndrome9.3EDN3, EDNRB, LOC107988030, MITF, SOX10

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:00053808.8EDN3, EDNRB, MITF, SOX10
2MP:00107718.7EDN3, EDNRB, MITF, SOX10
3MP:00011868.1EDN3, 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
Eye, Skin, 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
Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. (10938265)
2000
7
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. (10762540)
2000

Variations for Waardenburg Syndrome Type 4

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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
19.3EDN3, EDNRB
29.2MITF, SOX10
39.2MITF, SOX10

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 7)
idNameGO IDScoreTop Affiliating Genes
1enteric nervous system developmentGO:00484849.9EDNRB, SOX10
2peripheral nervous system developmentGO:00074229.9EDNRB, SOX10
3vasoconstrictionGO:00423109.4EDN3, EDNRB
4pigmentationGO:00434739.4EDNRB, MITF
5neural crest cell migrationGO:00017559.4EDN3, EDNRB, SOX10
6vein smooth muscle contractionGO:00148269.3EDN3, EDNRB
7melanocyte differentiationGO:00303188.6EDN3, 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