MCID: WRD010
MIFTS: 33

Waardenburg Syndrome Type 4

Categories: Rare diseases, Genetic diseases, Fetal diseases, Skin diseases, Ear diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Waardenburg Syndrome Type 4

MalaCards integrated aliases for Waardenburg Syndrome Type 4:

Name: Waardenburg Syndrome Type 4 49 69
Hirschsprung Disease with Pigmentary Anomaly 49
Waardenburg-Hirschsprung Syndrome 49
Waardenburg-Hirschsprung Disease 49
Waardenburg Syndrome, Type 4a 69
Waardenburg-Shah Syndrome 49
Shah-Waardenburg Syndrome 49
Ws4 49

Classifications:



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Summaries for Waardenburg Syndrome Type 4

NIH Rare Diseases : 49 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 waardenburg syndrome, type 4a and hirschsprung disease 1. An important gene associated with Waardenburg Syndrome Type 4 is SOX10 (SRY-Box 10), and among its related pathways/superpathways are Neural Crest Differentiation and Endothelins. Affiliated tissues include eye, skin and brain, and related phenotypes are embryo and integument

Related Diseases for Waardenburg Syndrome Type 4

Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 2a Waardenburg Syndrome, Type 4a
Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 2c
Waardenburg Syndrome, Type 2d Waardenburg Syndrome, Type 2e
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 23)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 4a 30.1 EDN3 EDNRB MITF SOX10
2 hirschsprung disease 1 29.2 EDN3 EDNRB MITF SOX10
3 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 12.0
4 waardenburg syndrome, type 4b 11.0
5 waardenburg syndrome, type 4c 11.0
6 neuropathy 10.0
7 microphthalmia 9.8
8 intestinal pseudo-obstruction 9.8 EDNRB SOX10
9 goldberg-shprintzen syndrome 9.8 EDN3 EDNRB
10 malignant spindle cell melanoma 9.8 MITF SOX10
11 breast angiosarcoma 9.8 MITF SOX10
12 intestinal obstruction 9.7 EDN3 EDNRB
13 neurofibroma 9.6 MITF SOX10
14 lentigines 9.6 EDNRB MITF
15 colonic disease 9.6 EDN3 EDNRB SOX10
16 megacolon 9.6 EDN3 EDNRB SOX10
17 central hypoventilation syndrome, congenital 9.5 EDN3 EDNRB
18 waardenburg syndrome, type 1 9.5 EDN3 MITF SOX10
19 tietz albinism-deafness syndrome 9.4 EDN3 MITF SOX10
20 dyschromatosis symmetrica hereditaria 9.4 EDN3 MITF SOX10
21 waardenburg syndrome, type 2e 9.4 EDNRB MITF SOX10
22 cochlear disease 9.0 EDN3 EDNRB MITF SOX10
23 waardenburg's syndrome 9.0 EDN3 EDNRB 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

MGI Mouse Phenotypes related to Waardenburg Syndrome Type 4:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.46 EDN3 EDNRB MITF SOX10
2 integument MP:0010771 9.26 EDN3 EDNRB MITF SOX10
3 pigmentation MP:0001186 8.92 EDN3 EDNRB MITF SOX10

Drugs & Therapeutics for Waardenburg Syndrome Type 4

Search Clinical Trials , NIH Clinical Center for Waardenburg Syndrome Type 4

Genetic Tests for Waardenburg Syndrome Type 4

Anatomical Context for Waardenburg Syndrome Type 4

MalaCards organs/tissues related to Waardenburg Syndrome Type 4:

38
Eye, Skin, Brain

Publications for Waardenburg Syndrome Type 4

Articles related to Waardenburg Syndrome Type 4:

# Title Authors Year
1
A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4. ( 28128317 )
2017
2
Upregulation of Nr2f1-A830082K12Rik gene pair in murine neural crest cells results in a complex phenotype reminiscent of waardenburg syndrome type 4. ( 27585883 )
2016
3
Waardenburg syndrome type 4: Report of two new cases caused by SOX10 mutations in Spain. ( 24311220 )
2014
4
Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4. ( 22378281 )
2012
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
A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene. ( 11773966 )
2002
7
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. ( 10762540 )
2000
8
Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. ( 10938265 )
2000

Variations for Waardenburg Syndrome Type 4

Expression for Waardenburg Syndrome Type 4

Search GEO for disease gene expression data for Waardenburg Syndrome Type 4.

Pathways for Waardenburg Syndrome Type 4

Pathways related to Waardenburg Syndrome Type 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.16 MITF SOX10
2 10.68 EDN3 EDNRB
3 10.24 MITF SOX10

GO Terms for Waardenburg Syndrome Type 4

Biological processes related to Waardenburg Syndrome Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.61 EDNRB MITF SOX10
2 pigmentation GO:0043473 9.4 EDNRB MITF
3 neural crest cell migration GO:0001755 9.37 EDNRB SOX10
4 peripheral nervous system development GO:0007422 9.32 EDNRB SOX10
5 vasoconstriction GO:0042310 9.26 EDN3 EDNRB
6 enteric nervous system development GO:0048484 9.16 EDNRB SOX10
7 vein smooth muscle contraction GO:0014826 8.96 EDN3 EDNRB
8 melanocyte differentiation GO:0030318 8.8 EDNRB MITF SOX10

Molecular functions related to Waardenburg Syndrome Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.62 MITF SOX10

Sources for Waardenburg Syndrome Type 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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