WS4
MCID: WRD010
MIFTS: 28

Waardenburg Syndrome Type 4 (WS4) malady

Summaries for Waardenburg Syndrome Type 4

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 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: Waardenburg Syndrome Type 4, also known as shah-waardenburg syndrome, is related to hirschsprung's disease and waardenburg's syndrome. An important gene associated with Waardenburg Syndrome Type 4 is SOX10 (SRY (sex determining region Y)-box 10), and among its related pathways are G alpha (q) signalling events and Development Angiotensin activation of ERK. The compounds bq610 and pd 142893 have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related mouse phenotypes are pigmentation and embryogenesis.

Aliases & Classifications for Waardenburg Syndrome Type 4

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42NIH Rare Diseases, 44Novoseek, 60UMLS
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Aliases & Descriptions:

waardenburg syndrome type 4 42
shah-waardenburg syndrome 42 44
hirschsprung disease with pigmentary anomaly 42
waardenburg-hirschsprung disease 42
waardenburg syndrome, type 4a 60
waardenburg syndrome, type i 60
waardenburg-shah syndrome 42
ws4 42


Related Diseases for Waardenburg Syndrome Type 4

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17GeneCards, 18GeneDecks
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Diseases in the Waardenburg Syndrome Type I family:

Waardenburg's Syndrome waardenburg syndrome type 4
Waardenburg Syndrome Type 3 Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2a Waardenburg Syndrome Type 2b
Waardenburg Syndrome Type Iva Waardenburg Syndrome Type Ivb
Waardenburg Syndrome Type Ivc Waardenburg Syndrome Type Iic
Waardenburg Syndrome Type Iie Waardenburg Syndrome Type Iid

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

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1hirschsprung's disease30.6EDN3, EDNRB, SOX10
2waardenburg's syndrome30.2SOX10, EDNRB, EDN3
3waardenburg syndrome type iva10.5
4pcwh syndrome10.4
5peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease10.3
6down syndrome10.3
7waardenburg syndrome type i10.3
8waardenburg syndrome type 310.3
9waardenburg syndrome type 2a10.3
10neuropathy10.2
11cleft lip10.2
12cleft palate10.2
13spina bifida10.2
14waardenburg syndrome type 2b10.2
15waardenburg syndrome type iic10.2
16waardenburg syndrome type iie10.2
17waardenburg syndrome/albinism, digenic10.2
18microphthalmia10.2
19waardenburg syndrome type ivb10.2
20waardenburg syndrome type ivc10.2
21oligodendroglioma10.0SOX10
22pulmonary fibrosis10.0EDN3
23liver cirrhosis10.0EDN3
24waardenburg syndrome type iid10.0
25waardenburg syndrome, type 2e, with or without neurologic involvement10.0
26intestinal obstruction10.0EDN3, EDNRB
27central hypoventilation syndrome, congenital, with or without hirschsprung disease10.0EDN3, EDNRB
28primary pulmonary hypertension10.0EDNRB, EDN3
29primary hyperoxaluria10.0EDNRB, EDN3
30developmental disabilities10.0EDNRB, SOX10
31sensorineural hearing loss10.0SOX10, EDNRB
32pheochromocytoma10.0EDNRB, EDN3
33glomerulonephritis10.0EDN3, EDNRB
34melanoma10.0SOX10, EDNRB, EDN3

Graphical network of the top 20 diseases related to Waardenburg Syndrome Type 4:



Diseases related to waardenburg syndrome type 4

Clinical Features for Waardenburg Syndrome Type 4

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Drugs & Therapeutics for Waardenburg Syndrome Type 4

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Waardenburg Syndrome Type 4

Drug clinical trials:

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Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Waardenburg Syndrome Type 4:

32
Skin, Eye

Animal Models for Waardenburg Syndrome Type 4 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Waardenburg Syndrome Type 4:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.5EDN3, EDNRB, SOX10
2MP:00053808.5EDN3, EDNRB, SOX10
3MP:00053818.4EDN3, EDNRB, SOX10
4MP:00107718.2SOX10, EDNRB, EDN3

Publications for Waardenburg Syndrome Type 4

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Genetic Variations for Waardenburg Syndrome Type 4

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Expression for genes affiliated with Waardenburg Syndrome Type 4

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Waardenburg Syndrome Type 4

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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53Reactome, 12EMD Millipore, 37NCBI BioSystems Database
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Pathways related to Waardenburg Syndrome Type 4 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1EDN3, EDNRB
2
Hide members
9.1EDN3, EDNRB
39.1EDN3, EDNRB

Compounds for genes affiliated with Waardenburg Syndrome Type 4

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience, 49PharmGKB
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Compounds related to Waardenburg Syndrome Type 4 according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1bq610449.5EDN3, EDNRB
2pd 142893449.4EDNRB, EDN3
3bq 302044 2810.4EDN3, EDNRB
4sarafotoxin449.4EDNRB, EDN3
5tezosentan449.4EDNRB, EDN3
6fr13931744 2810.4EDN3, EDNRB
7irl 162044 2810.4EDN3, EDNRB
8bq78844 2810.4EDNRB, EDN3
9bq12344 2810.4EDNRB, EDN3
10bosentan44 1110.3EDNRB, EDN3
11phosphoramidon44 1110.3EDNRB, EDN3
12cgmp44 2810.3EDNRB, EDN3
13prostacyclin449.2EDNRB, EDN3
14guanine44 11 2411.2EDN3, EDNRB
15indomethacin44 59 28 1112.1EDNRB, EDN3
16potassium44 11 2411.1EDNRB, EDN3
17norepinephrine44 11 2411.0EDNRB, EDN3
18acetylcholine44 49 28 11 2412.8EDNRB, EDN3

GO Terms for genes affiliated with Waardenburg Syndrome Type 4

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16Gene Ontology
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Biological processes related to Waardenburg Syndrome Type 4 according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1vein smooth muscle contractionGO:0148269.2EDN3, EDNRB
2vasoconstrictionGO:0423109.1EDNRB, EDN3
3cell surface receptor signaling pathwayGO:0071669.1EDN3, EDNRB
4enteric nervous system developmentGO:0484848.9EDNRB, SOX10
5peripheral nervous system developmentGO:0074228.7EDNRB, SOX10
6melanocyte differentiationGO:0303188.7EDN3, EDNRB, SOX10
7neural crest cell migrationGO:0017558.6EDN3, EDNRB, SOX10

Products for genes affiliated with Waardenburg Syndrome Type 4

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Sources for Waardenburg Syndrome Type 4

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet