WS4
MCID: WRD010
MIFTS: 34

Waardenburg Syndrome Type 4 (WS4)

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

Aliases & Classifications for Waardenburg Syndrome Type 4

MalaCards integrated aliases for Waardenburg Syndrome Type 4:

Name: Waardenburg Syndrome Type 4 53 73
Hirschsprung Disease with Pigmentary Anomaly 53
Waardenburg-Hirschsprung Syndrome 53
Waardenburg-Hirschsprung Disease 53
Waardenburg Syndrome, Type 4a 73
Waardenburg-Shah Syndrome 53
Shah-Waardenburg Syndrome 53
Ws4 53

Classifications:



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Summaries for Waardenburg Syndrome Type 4

NIH Rare Diseases : 53 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.

MalaCards based summary : Waardenburg Syndrome Type 4, also known as hirschsprung disease with pigmentary anomaly, is related to peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease and waardenburg syndrome, type 2e. 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 skin, eye 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 35)
# Related Disease Score Top Affiliating Genes
1 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 32.5 EDN3 EDNRB MITF SOX10
2 waardenburg syndrome, type 2e 31.1 EDNRB MITF SOX10
3 waardenburg syndrome, type 4b 31.1 EDN3 EDNRB MITF SOX10
4 waardenburg syndrome, type 4a 31.1 EDN3 EDNRB MITF SOX10
5 waardenburg's syndrome 29.9 EDN3 EDNRB MITF SOX10
6 hirschsprung disease 1 29.6 EDN3 EDNRB MITF SOX10
7 waardenburg syndrome, type 4c 11.2
8 waardenburg syndrome, type 2b 11.0
9 waardenburg syndrome, type 2c 11.0
10 waardenburg syndrome, type 2d 11.0
11 down syndrome 10.2
12 aganglionosis, total intestinal 10.2
13 short bowel syndrome 10.2
14 dermatitis 10.2
15 food allergy 10.2
16 dandy-walker complex 10.2
17 neuropathy 10.1
18 microphthalmia 10.0
19 goldberg-shprintzen syndrome 9.9 EDN3 EDNRB
20 intestinal pseudo-obstruction 9.9 EDNRB SOX10
21 albinism, ocular, with late-onset sensorineural deafness 9.9 MITF SOX10
22 malignant spindle cell melanoma 9.9 MITF SOX10
23 breast angiosarcoma 9.9 MITF SOX10
24 tietz albinism-deafness syndrome 9.9 MITF SOX10
25 intestinal obstruction 9.9 EDN3 EDNRB
26 neurofibroma 9.9 MITF SOX10
27 central hypoventilation syndrome, congenital 9.8 EDN3 EDNRB
28 megacolon 9.8 EDN3 EDNRB SOX10
29 colonic disease 9.8 EDN3 EDNRB SOX10
30 constipation 9.8 EDN3 EDNRB
31 waardenburg syndrome, type 3 9.7 EDN3 MITF SOX10
32 dyschromatosis symmetrica hereditaria 9.7 EDN3 MITF SOX10
33 cochlear disease 9.5 EDN3 EDNRB MITF SOX10
34 waardenburg syndrome, type 2a 9.5 EDN3 EDNRB MITF SOX10
35 waardenburg syndrome, type 1 9.5 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:

46
# 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:

41
Skin, Eye, Brain, Colon

Publications for Waardenburg Syndrome Type 4

Articles related to Waardenburg Syndrome Type 4:

# Title Authors Year
1
A homozygous MITF mutation leads to familial Waardenburg syndrome type 4. ( 30549420 )
2018
2
A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4. ( 28128317 )
2017
3
Upregulation of Nr2f1-A830082K12Rik gene pair in murine neural crest cells results in a complex phenotype reminiscent of waardenburg syndrome type 4. ( 27585883 )
2016
4
Waardenburg syndrome type 4: Report of two new cases caused by SOX10 mutations in Spain. ( 24311220 )
2014
5
Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4. ( 22378281 )
2012
6
A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene. ( 11773966 )
2002
7
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
8
Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. ( 10938265 )
2000
9
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:

# 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 peripheral nervous system development GO:0007422 9.37 EDNRB SOX10
4 vasoconstriction GO:0042310 9.32 EDN3 EDNRB
5 enteric nervous system development GO:0048484 9.26 EDNRB SOX10
6 vein smooth muscle contraction GO:0014826 9.16 EDN3 EDNRB
7 neural crest cell migration GO:0001755 9.13 EDN3 EDNRB SOX10
8 melanocyte differentiation GO:0030318 8.92 EDN3 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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