MCID: WRD010
MIFTS: 23

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 45 65
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:



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UMLS65 C3469510, C1848519

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 pcwh syndrome and waardenburg's syndrome. An important gene associated with Waardenburg Syndrome Type 4 is SOX10 (SRY-Box 10). Affiliated tissues include skin, eye and bone, and related mouse phenotypes are tumorigenesis and limbs/digits/tail.

Related Diseases for Waardenburg Syndrome Type 4

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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
Skin, Eye, Bone

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:00020069.1EDNRB, SOX10
2MP:00053719.1EDNRB, SOX10
3MP:00011868.8EDNRB, SOX10

Publications for Waardenburg Syndrome Type 4

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Articles related to Waardenburg Syndrome Type 4:

idTitleAuthorsYear
1
Imported loiasis in France: A retrospective analysis of 47 cases. (24035648)
2013
2
Representativeness of suspected measles cases reported in a southern district of Nigeria. (23339915)
2013
3
Dual-energy direct bone removal CT angiography for evaluation of intracranial aneurysm or stenosis: comparison with conventional digital subtraction angiography. (19002466)
2009
4
Team processes and team care for children with developmental disabilities. (19041464)
2008
5
Upstream transcription factor 1 gene polymorphisms are associated with high antilipolytic insulin sensitivity and show gene-gene interactions. (17016691)
2007
6
The use of partially HLA-mismatched donors for allogeneic transplantation in patients with mucopolysaccharidosis-I. (10084733)
1998

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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GO Terms for genes affiliated with Waardenburg Syndrome Type 4

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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