WS4
MCID: WRD010
MIFTS: 29

Waardenburg Syndrome Type 4 (WS4) malady

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

Aliases & Classifications for Waardenburg Syndrome Type 4

Aliases & Descriptions for Waardenburg Syndrome Type 4:

Name: Waardenburg Syndrome Type 4 50 69
Hirschsprung Disease with Pigmentary Anomaly 50
Waardenburg-Hirschsprung Syndrome 50
Waardenburg-Hirschsprung Disease 50
Waardenburg Syndrome, Type 4a 69
Shah-Waardenburg Syndrome 50
Waardenburg-Shah Syndrome 50
Ws4 50

Classifications:



Summaries for Waardenburg Syndrome Type 4

NIH Rare Diseases : 50 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/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 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)
id Related Disease Score Top Affiliating Genes
1 pcwh syndrome 11.9
2 waardenburg syndrome, type 4a 11.2
3 waardenburg syndrome, type 4b 10.9
4 waardenburg syndrome, type 4c 10.9
5 deafness, mitochondrial, modifier of 10.0 EDNRB SOX10
6 epiphyseal dysplasia, multiple, 3 10.0 EDN3 EDNRB
7 apocrine adenoma 10.0 EDNRB SOX10
8 congenital hypomyelination neuropathy 10.0
9 neuropathy 10.0
10 charcot-marie-tooth neuropathy, x-linked recessive, 2 9.9 MITF SOX10
11 shprintzen-goldberg syndrome 9.9 EDN3 EDNRB
12 verrucous papilloma 9.9 MITF SOX10
13 ariboflavinosis 9.9 EDN3 EDNRB
14 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 9.9 MITF SOX10
15 skin pilomatrix carcinoma 9.8 EDN3 EDNRB SOX10
16 spinal meningioma 9.8 EDN3 EDNRB SOX10
17 chronic infections, due to mbl deficiency 9.8 EDN3 EDNRB
18 microphthalmia 9.8
19 waardenburg syndrome, type 3 9.8 EDN3 MITF SOX10
20 aicardi-goutieres syndrome 6 9.7 EDN3 MITF SOX10
21 ceroid lipofuscinosis, neuronal, 5 9.5 EDN3 EDNRB MITF SOX10
22 cervical adenofibroma 9.5 EDN3 EDNRB MITF SOX10
23 myopathy of extraocular muscle 9.5 EDN3 EDNRB MITF SOX10
24 tooth agenesis, selective, 5 9.5 EDN3 EDNRB MITF SOX10
25 wdha syndrome 9.3 EDN3 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

MGI Mouse Phenotypes related to Waardenburg Syndrome Type 4:

44
id 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:

39
Eye, Skin, Brain

Publications for Waardenburg Syndrome Type 4

Articles related to Waardenburg Syndrome Type 4:

id Title Authors Year
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

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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 pigmentation GO:0043473 9.4 EDNRB MITF
2 peripheral nervous system development GO:0007422 9.37 EDNRB SOX10
3 vasoconstriction GO:0042310 9.32 EDN3 EDNRB
4 enteric nervous system development GO:0048484 9.26 EDNRB SOX10
5 vein smooth muscle contraction GO:0014826 9.16 EDN3 EDNRB
6 neural crest cell migration GO:0001755 9.13 EDN3 EDNRB SOX10
7 melanocyte differentiation GO:0030318 8.92 EDN3 EDNRB MITF SOX10

Sources for Waardenburg Syndrome Type 4

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