WS4A
MCID: WRD020
MIFTS: 42

Waardenburg Syndrome, Type 4a (WS4A) 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 52 12 68
Waardenburg Syndrome Type Iva 11 24 70
Ws4a 11 24 70
Waardenburg Syndrome with Hirschsprung Disease Type 4a 11 70
Shah-Waardenburg Syndrome 70 50
 
Waardenburg Syndrome 4a 70 27
Waardenburg Syndrome with Hirschsprung Disease, Type 4a 24
Hirschsprung Disease with Pigmentary Anomaly 70
Waardenburg Syndrome Type 4a 11
Waardenburg-Shah Syndrome 70

Characteristics:

HPO:

64

Classifications:



External Ids:

OMIM52 277580
Disease Ontology11 DOID:0110953
MedGen37 C1848519
MeSH39 D014849

Summaries for Waardenburg Syndrome, Type 4a

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OMIM:52 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 pcwh syndrome and waardenburg syndrome, type 4b, 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 endocrine/exocrine gland.

UniProtKB/Swiss-Prot:70 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).

Disease Ontology:11 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has material basis in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22.

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 29)
idRelated DiseaseScoreTop Affiliating Genes
1pcwh syndrome11.9
2waardenburg syndrome, type 4b11.0
3waardenburg syndrome, type 4c11.0
4waardenburg's syndrome11.0
5waardenburg syndrome type 411.0
6waardenburg syndrome, type 110.8
7deafness, mitochondrial, modifier of10.1EDNRB, SOX10
8hirschsprung disease 110.0EDNRB, RET
9epiphyseal dysplasia, multiple, 310.0EDN3, EDNRB
10sweat gland cancer10.0EDNRB, RET
11neutropenia, severe congenital, 5, autosomal recessive10.0EDNRB, RET
12uterine ligament clear cell adenocarcinoma9.9EDNRB, RET
13charcot-marie-tooth neuropathy, x-linked recessive, 29.9MITF, SOX10
14verrucous papilloma9.9MITF, SOX10
15apocrine adenoma9.9EDNRB, RET, SOX10
16rectum kaposi's sarcoma9.9MITF, RET
17shprintzen-goldberg syndrome9.9EDN3, EDNRB, RET
18ariboflavinosis9.8EDN3, EDNRB, RET
19chronic infections, due to mbl deficiency9.8EDN3, EDNRB, RET
20progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 39.7MITF, SOX10
21waardenburg syndrome, type 39.7EDN3, MITF, SOX10
22aicardi-goutieres syndrome 69.7EDN3, MITF, SOX10
23skin pilomatrix carcinoma9.7EDN3, EDNRB, RET, SOX10
24spinal meningioma9.7EDN3, EDNRB, RET, SOX10
25wdha syndrome9.6EDN3, EDNRB, MITF, SOX10
26cervical adenofibroma9.5EDN3, EDNRB, MITF, SOX10
27ceroid lipofuscinosis, neuronal, 59.4EDN3, EDNRB, MITF, RET, SOX10
28myopathy of extraocular muscle9.3EDN3, EDNRB, MITF, RET, SOX10
29tooth agenesis, selective, 59.3EDN3, 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 & Phenotypes for Waardenburg Syndrome, Type 4a

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Symptoms by clinical synopsis from OMIM:

277580

Clinical features from OMIM:

277580

Human phenotypes related to Waardenburg Syndrome, Type 4a:

 64 (show all 30)
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment64 HP:0000407
2 blue irides64 HP:0000635
3 nystagmus64 HP:0000639
4 hypopigmented skin patches64 HP:0001053
5 heterochromia iridis64 HP:0001100
6 ataxia64 HP:0001251
7 muscular hypotonia64 HP:0001252
8 global developmental delay64 HP:0001263
9 polyneuropathy64 HP:0001271
10 white forelock64 HP:0002211
11 premature graying of hair64 HP:0002216
12 white eyebrow64 HP:0002226
13 white eyelashes64 HP:0002227
14 aganglionic megacolon64 HP:0002251
15 autonomic dysregulation64 HP:0002271
16 spastic paraparesis64 HP:0002313
17 leukodystrophy64 HP:0002415
18 hearing impairment64 HP:0000365
19 prominent nasal bridge64 HP:0000426
20 underdeveloped nasal alae64 HP:0000430
21 wide nasal bridge64 HP:0000431
22 abnormality of vision64 HP:0000504
23 telecanthus64 HP:0000506
24 synophrys64 HP:0000664
25 abnormality of the macula64 HP:0001103
26 olfactory lobe agenesis64 HP:0001341
27 constipation64 HP:0002019
28 abdominal pain64 HP:0002027
29 intestinal obstruction64 HP:0005214
30 abnormality of retinal pigmentation64 HP:0007703

MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 4a according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.2EDN3, EDNRB, RET, SOX10
2MP:00053799.0EDNRB, MITF, RET, SOX10
3MP:00053719.0EDNRB, MITF, RET, SOX10
4MP:00107718.9EDN3, EDNRB, MITF, SOX10
5MP:00053868.4EDN3, EDNRB, MITF, RET, SOX10
6MP:00053808.4EDN3, EDNRB, MITF, RET, SOX10
7MP:00107688.3EDN3, EDNRB, MITF, RET, SOX10
8MP:00036318.2EDN3, EDNRB, MITF, RET, SOX10
9MP:00011868.1EDN3, EDNRB, MITF, SOX10

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 4a27
2 Waardenburg Syndrome Type Iva24 EDNRB

Anatomical Context for Waardenburg Syndrome, Type 4a

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

36
Skin, Eye

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:

70
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
1EDNRBNM_ 000115.4(EDNRB): c.828G> T (p.Trp276Cys)SNVPathogenic, risk factorrs104894387GRCh37Chr 13, 78475316: 78475316
2EDNRBNM_ 000115.4(EDNRB): c.548C> G (p.Ala183Gly)SNVPathogenicrs104894388GRCh37Chr 13, 78477678: 78477678
3EDNRBNM_ 000115.4(EDNRB): c.757C> T (p.Arg253Ter)SNVPathogenicrs104894390GRCh37Chr 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 11)
idNameGO IDScoreTop Affiliating Genes
1peripheral nervous system developmentGO:000742210.2EDNRB, SOX10
2neuron differentiationGO:003018210.0EDN3, RET
3posterior midgut developmentGO:00074979.9EDNRB, RET
4pigmentationGO:00434739.9EDNRB, MITF
5response to painGO:00482659.9EDNRB, RET
6enteric nervous system developmentGO:00484849.7EDNRB, RET, SOX10
7vasoconstrictionGO:00423109.5EDN3, EDNRB
8vein smooth muscle contractionGO:00148269.4EDN3, EDNRB
9positive regulation of transcription, DNA-templatedGO:00458939.1MITF, RET, SOX10
10neural crest cell migrationGO:00017559.0EDN3, EDNRB, RET, SOX10
11melanocyte differentiationGO:00303188.7EDN3, EDNRB, MITF, SOX10

Sources for Waardenburg Syndrome, Type 4a

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet