MCID: WRD020
MIFTS: 41

Waardenburg Syndrome, Type 4a malady

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

Aliases & Classifications for Waardenburg Syndrome, Type 4a

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Aliases & Descriptions for Waardenburg Syndrome, Type 4a:

Name: Waardenburg Syndrome, Type 4a 50 12 66
Waardenburg Syndrome Type Iva 23 68
Shah-Waardenburg Syndrome 68 48
Waardenburg Syndrome 4a 68 25
Ws4a 23 68
 
Waardenburg Syndrome with Hirschsprung Disease, Type 4a 23
Waardenburg Syndrome with Hirschsprung Disease Type 4a 68
Hirschsprung Disease with Pigmentary Anomaly 68
Waardenburg-Shah Syndrome 68

Characteristics:

HPO:

62


Classifications:



External Ids:

OMIM50 277580
MedGen35 C1848519
MeSH37 D014849

Summaries for Waardenburg Syndrome, Type 4a

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OMIM:50 Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome... (277580) more...

MalaCards based summary: Waardenburg Syndrome, Type 4a, also known as waardenburg syndrome type iva, is related to waardenburg syndrome, type 1 and pcwh syndrome, and has symptoms including sensorineural hearing impairment, blue irides and nystagmus. An important gene associated with Waardenburg Syndrome, Type 4a is EDNRB (Endothelin Receptor Type B), and among its related pathways are Endothelins and Melanocyte Development and Pigmentation. Affiliated tissues include skin and eye, and related mouse phenotypes are digestive/alimentary and integument.

UniProtKB/Swiss-Prot:68 Waardenburg syndrome 4A: A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).

Related Diseases for Waardenburg Syndrome, Type 4a

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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 4a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1waardenburg syndrome, type 128.7EDN3, MITF, SOX10
2pcwh syndrome11.8
3waardenburg's syndrome11.1
4waardenburg syndrome type 411.1
5central hypoventilation syndrome, congenital10.0EDNRB, RET
6multiple endocrine neoplasia iib9.9EDNRB, RET
7waardenburg syndrome, type 4b9.9
8waardenburg syndrome, type 4c9.9
9medullary thyroid carcinoma, familial9.9EDNRB, RET
10vulvar melanoma9.8EDNRB, RET
11charcot-marie-tooth neuropathy, x-linked recessive, 29.7MITF, SOX10
12leukemoid reaction9.7MITF, SOX10
13placental insufficiency9.6EDNRB, RET, SOX10
14rectum leiomyosarcoma9.6EDNRB, RET
15nonsyndromic congenital nail disorder 29.5EDN3, EDNRB, RET
16pulmonary immaturity9.5MITF, SOX10
17shprintzen-goldberg syndrome9.5EDN3, EDNRB, RET
18hirschsprung disease 19.5EDN3, EDNRB, RET
19postgastrectomy syndrome9.5EDN3, EDNRB, RET
20dyschromatosis symmetrica hereditaria9.1EDN3, MITF, SOX10
21pulmonary coin lesion9.1EDN3, EDNRB, RET, SOX10
22gnathomiasis9.1EDN3, EDNRB, RET, SOX10
23hirschsprung nail hypoplasia dysmorphism8.8EDN3, EDNRB, MITF, SOX10
24conjunctival cancer8.8EDN3, EDNRB, MITF, SOX10
25diabetes mellitus, noninsulin-dependent, 58.3EDN3, EDNRB, MITF, RET, SOX10
26homocystinuria8.3EDN3, EDNRB, MITF, RET, SOX10
27chronic infections, due to mbl deficiency8.3EDN3, EDNRB, MITF, RET, SOX10

Graphical network of the top 20 diseases related to Waardenburg Syndrome, Type 4a:



Diseases related to waardenburg syndrome, type 4a

Symptoms for Waardenburg Syndrome, Type 4a

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Symptoms by clinical synopsis from OMIM:

277580

Clinical features from OMIM:

277580

HPO human phenotypes related to Waardenburg Syndrome, Type 4a:

(show all 17)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment HP:0000407
2 blue irides HP:0000635
3 nystagmus HP:0000639
4 hypopigmented skin patches HP:0001053
5 heterochromia iridis HP:0001100
6 ataxia HP:0001251
7 muscular hypotonia HP:0001252
8 global developmental delay HP:0001263
9 polyneuropathy HP:0001271
10 white forelock HP:0002211
11 premature graying of hair HP:0002216
12 white eyebrow HP:0002226
13 white eyelashes HP:0002227
14 aganglionic megacolon HP:0002251
15 autonomic dysregulation HP:0002271
16 spastic paraparesis HP:0002313
17 leukodystrophy HP:0002415

Drugs & Therapeutics for Waardenburg Syndrome, Type 4a

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Waardenburg Syndrome, Type 4a

Genetic Tests for Waardenburg Syndrome, Type 4a

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Genetic tests related to Waardenburg Syndrome, Type 4a:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 4a25
2 Waardenburg Syndrome Type Iva23 EDNRB

Anatomical Context for Waardenburg Syndrome, Type 4a

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MalaCards organs/tissues related to Waardenburg Syndrome, Type 4a:

34
Skin, Eye

Animal Models for Waardenburg Syndrome, Type 4a or affiliated genes

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MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 4a:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.6EDN3, EDNRB, RET, SOX10
2MP:00107718.5EDN3, EDNRB, MITF, SOX10
3MP:00011868.5EDN3, EDNRB, MITF, SOX10
4MP:00053718.2EDNRB, MITF, RET, SOX10
5MP:00053798.1EDNRB, MITF, RET, SOX10
6MP:00053807.8EDN3, EDNRB, MITF, RET, SOX10
7MP:00107687.6EDN3, EDNRB, MITF, RET, SOX10
8MP:00036317.5EDN3, EDNRB, MITF, RET, SOX10
9MP:00053867.2EDN3, EDNRB, MITF, RET, SOX10

Publications for Waardenburg Syndrome, Type 4a

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Variations for Waardenburg Syndrome, Type 4a

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UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 4a:

68
id Symbol AA change Variation ID SNP ID
1EDNRBp.Ala183GlyVAR_003470rs104894388
2EDNRBp.Phe292LeuVAR_015294

Clinvar genetic disease variations for Waardenburg Syndrome, Type 4a:

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
2NM_000115.3(EDNRB): c.548C> G (p.Ala183Gly)single nucleotide variantPathogenicrs104894388GRCh37Chr 13, 78477678: 78477678
3NM_000115.3(EDNRB): c.757C> T (p.Arg253Ter)single nucleotide variantPathogenicrs104894390GRCh37Chr 13, 78477335: 78477335

Expression for genes affiliated with Waardenburg Syndrome, Type 4a

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

Pathways for genes affiliated with Waardenburg Syndrome, Type 4a

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

idSuper pathwaysScoreTop Affiliating Genes
19.4EDN3, EDNRB
29.1MITF, SOX10
39.1MITF, SOX10
48.7EDNRB, MITF, RET

GO Terms for genes affiliated with Waardenburg Syndrome, Type 4a

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1posterior midgut developmentGO:000749710.1EDNRB, RET
2vein smooth muscle contractionGO:001482610.1EDN3, EDNRB
3peripheral nervous system developmentGO:00074229.9EDNRB, SOX10
4vasoconstrictionGO:00423109.9EDN3, EDNRB
5response to painGO:00482659.7EDNRB, RET
6enteric nervous system developmentGO:00484849.6EDNRB, RET, SOX10
7neuron differentiationGO:00301829.3EDN3, RET
8neural crest cell migrationGO:00017558.7EDN3, EDNRB, RET, SOX10
9positive regulation of transcription, DNA-templatedGO:00458938.5MITF, RET, SOX10
10melanocyte differentiationGO:00303188.5EDN3, EDNRB, MITF, SOX10

Sources for Waardenburg Syndrome, Type 4a

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet