WS4
MCID: WRD010
MIFTS: 27

Waardenburg Syndrome Type 4 (WS4) malady

Summaries for Waardenburg Syndrome Type 4

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 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 waardenburg's syndrome and hirschsprung's disease. 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 related mouse phenotypes are pigmentation and embryogenesis.

Aliases & Classifications for Waardenburg Syndrome Type 4

Sources:
43NIH Rare Diseases, 45Novoseek, 61UMLS
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Aliases & Descriptions:

waardenburg syndrome type 4 43
shah-waardenburg syndrome 43 45
hirschsprung disease with pigmentary anomaly 43
waardenburg-hirschsprung disease 43
waardenburg syndrome, type 4a 61
waardenburg syndrome, type i 61
waardenburg-shah syndrome 43
ws4 43


Related Diseases for Waardenburg Syndrome Type 4

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17GeneCards, 18GeneDecks
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Diseases in the waardenburg syndrome type 2a family:

waardenburg's syndrome waardenburg syndrome type i
waardenburg syndrome type 4 waardenburg syndrome type 3
waardenburg syndrome type 2 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
waardenburg syndrome, type 2e, with or without neurologic involvement

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1waardenburg's syndrome30.9SOX10, EDNRB, EDN3
2hirschsprung's disease30.4EDN3, EDNRB, SOX10
3waardenburg syndrome type iva10.5
4waardenburg syndrome type 210.4
5cant� syndrome10.4
6peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease10.3
7waardenburg syndrome type 310.3
8waardenburg syndrome type 2a10.3
9pcwh syndrome10.3
10cleft palate10.2
11spina bifida10.2
12char syndrome10.2
13heterochromia iridis10.2
14small patella syndrome10.2
15neural tube defects10.2
16waardenburg syndrome type 2b10.2
17waardenburg syndrome type iic10.2
18waardenburg syndrome type iie10.2
19waardenburg syndrome/albinism, digenic10.2
20microphthalmia with limb anomalies10.2
21microphthalmia10.2
22n syndrome10.2
23micro syndrome10.2
24waardenburg syndrome type i10.2
25waardenburg syndrome type ivb10.2
26waardenburg syndrome type ivc10.2
27waardenburg syndrome type iid10.0
28waardenburg syndrome, type 2e, with or without neurologic involvement10.0
29oligodendroglioma10.0SOX10
30pulmonary fibrosis10.0EDN3
31liver cirrhosis10.0EDN3
32intestinal obstruction10.0EDN3, EDNRB
33central hypoventilation syndrome, congenital, with or without hirschsprung disease10.0EDN3, EDNRB
34primary pulmonary hypertension10.0EDNRB, EDN3
35primary hyperoxaluria10.0EDNRB, EDN3
36developmental disabilities10.0EDNRB, SOX10
37sensorineural hearing loss10.0SOX10, EDNRB
38pheochromocytoma10.0EDNRB, EDN3
39glomerulonephritis10.0EDN3, EDNRB
40melanoma10.0SOX10, 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

Drugs & Therapeutics for Waardenburg Syndrome Type 4

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Waardenburg Syndrome Type 4

Drug clinical trials:

Search ClinicalTrials for Waardenburg Syndrome Type 4

Search NIH Clinical Center for Waardenburg Syndrome Type 4

Search CenterWatch for Waardenburg Syndrome Type 4

Genetic Tests for Waardenburg Syndrome Type 4

Anatomical Context for Waardenburg Syndrome Type 4

Sources:
33MalaCards
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MalaCards organs/tissues related to Waardenburg Syndrome Type 4:

33
Skin

Animal Models for Waardenburg Syndrome Type 4 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Waardenburg Syndrome Type 4:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.5SOX10, EDNRB, EDN3
2MP:00053808.5EDNRB, SOX10, EDN3
3MP:00053818.4EDN3, SOX10, EDNRB
4MP:00107718.2EDNRB, SOX10, EDN3

Publications for Waardenburg Syndrome Type 4

Genetic Variations for Waardenburg Syndrome Type 4

Expression for genes affiliated with Waardenburg Syndrome Type 4

Sources:
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

Sources:
54Reactome, 12EMD Millipore, 38NCBI 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

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience, 50PharmGKB
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Compounds related to Waardenburg Syndrome Type 4 according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1bq610459.5EDN3, EDNRB
2pd 142893459.4EDNRB, EDN3
3bq 302045 2910.4EDN3, EDNRB
4sarafotoxin459.4EDNRB, EDN3
5tezosentan459.4EDNRB, EDN3
6fr13931745 2910.4EDN3, EDNRB
7irl 162045 2910.4EDN3, EDNRB
8bq78845 2910.4EDNRB, EDN3
9bq12345 2910.4EDNRB, EDN3
10bosentan45 1110.3EDNRB, EDN3
11phosphoramidon45 1110.3EDNRB, EDN3
12cgmp45 2910.3EDNRB, EDN3
13prostacyclin459.2EDNRB, EDN3
14guanine45 11 2411.2EDN3, EDNRB
15indomethacin45 60 29 1112.1EDNRB, EDN3
16potassium45 11 2411.1EDNRB, EDN3
17norepinephrine45 11 2411.0EDNRB, EDN3
18acetylcholine45 50 29 11 2412.8EDNRB, EDN3

GO Terms for genes affiliated with Waardenburg Syndrome Type 4

Sources:
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:0148269.2EDNRB, EDN3
2vasoconstrictionGO:0423109.1EDN3, EDNRB
3cell surface receptor signaling pathwayGO:0071669.1EDNRB, EDN3
4enteric nervous system developmentGO:0484848.9EDNRB, SOX10
5peripheral nervous system developmentGO:0074228.7SOX10, EDNRB
6melanocyte differentiationGO:0303188.7SOX10, EDNRB, EDN3
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet