MCID: WRD019
MIFTS: 34

Waardenburg Syndrome, Type 4b malady

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

Aliases & Classifications for Waardenburg Syndrome, Type 4b

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Aliases & Descriptions for Waardenburg Syndrome, Type 4b:

Name: Waardenburg Syndrome, Type 4b 52 12 68
Waardenburg Syndrome Type Ivb 24 70
Waardenburg Syndrome 4b 70 27
Ws4b 24 70
Waardenburg Syndrome with Hirschsprung Disease, Type 4b 24
 
Waardenburg Syndrome with Hirschsprung Disease Type 4b 70
Hirschsprung Disease with Pigmentary Anomaly 70
Waardenburg Syndrome, Type 4a 68
Shah-Waardenburg Syndrome 70
Waardenburg-Shah Syndrome 70

Characteristics:

HPO:

64

Classifications:



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OMIM52 613265
MedGen37 C2750457
MeSH39 D014849

Summaries for Waardenburg Syndrome, Type 4b

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OMIM:52 Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye,... (613265) more...

MalaCards based summary: Waardenburg Syndrome, Type 4b, also known as waardenburg syndrome type ivb, is related to pcwh syndrome and waardenburg syndrome, type 4a, and has symptoms including sensorineural hearing impairment, blue irides and hypopigmented skin patches. An important gene associated with Waardenburg Syndrome, Type 4b is EDN3 (Endothelin 3), and among its related pathways are Development Angiotensin activation of ERK and Endothelins. Affiliated tissues include eye and skin, and related mouse phenotype pigmentation.

UniProtKB/Swiss-Prot:70 Waardenburg syndrome 4B: 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 4b

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Graphical network of diseases related to Waardenburg Syndrome, Type 4b:



Diseases related to waardenburg syndrome, type 4b

Symptoms & Phenotypes for Waardenburg Syndrome, Type 4b

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Symptoms by clinical synopsis from OMIM:

613265

Clinical features from OMIM:

613265

Human phenotypes related to Waardenburg Syndrome, Type 4b:

 64 (show all 9)
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment64 HP:0000407
2 blue irides64 HP:0000635
3 hypopigmented skin patches64 HP:0001053
4 heterochromia iridis64 HP:0001100
5 white forelock64 HP:0002211
6 premature graying of hair64 HP:0002216
7 white eyebrow64 HP:0002226
8 white eyelashes64 HP:0002227
9 aganglionic megacolon64 HP:0002251

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1EDN3, EDNRB

Drugs & Therapeutics for Waardenburg Syndrome, Type 4b

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Interventional clinical trials:

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

Genetic Tests for Waardenburg Syndrome, Type 4b

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Genetic tests related to Waardenburg Syndrome, Type 4b:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 4b27
2 Waardenburg Syndrome Type Ivb24 EDN3

Anatomical Context for Waardenburg Syndrome, Type 4b

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

36
Eye, Skin

Publications for Waardenburg Syndrome, Type 4b

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Variations for Waardenburg Syndrome, Type 4b

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

70
id Symbol AA change Variation ID SNP ID
1EDN3p.Cys159PheVAR_002353rs74315384
2EDN3p.Tyr127CysVAR_015238rs752400458

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

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
2EDN3EDN3, 262GC-Tundetermined variantPathogenicChr na, -1: -1
3EDN3NM_207034.2(EDN3): c.476G> T (p.Cys159Phe)SNVPathogenicrs74315384GRCh37Chr 20, 57896182: 57896182
4EDN3NM_207034.2(EDN3): c.507C> A (p.Cys169Ter)SNVPathogenicrs74315385GRCh38Chr 20, 59321158: 59321158
5EDN3NM_207034.2(EDN3): c.335A> G (p.His112Arg)SNVPathogenicrs267606778GRCh37Chr 20, 57876747: 57876747
6EDN3NM_207034.2(EDN3): c.277C> G (p.Arg93Gly)SNVPathogenicrs267606779GRCh37Chr 20, 57876689: 57876689

Expression for genes affiliated with Waardenburg Syndrome, Type 4b

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

Pathways for genes affiliated with Waardenburg Syndrome, Type 4b

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

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

idNameGO IDScoreTop Affiliating Genes
1cell surface receptor signaling pathwayGO:00071669.8EDN3, EDNRB
2melanocyte differentiationGO:00303189.8EDN3, EDNRB
3neural crest cell migrationGO:00017559.8EDN3, EDNRB
4positive regulation of cell proliferationGO:00082849.5EDN3, EDNRB
5vasoconstrictionGO:00423109.2EDN3, EDNRB
6vein smooth muscle contractionGO:00148269.1EDN3, EDNRB

Sources for Waardenburg Syndrome, Type 4b

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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