MCID: WRD019
MIFTS: 28

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 50 12 66
Waardenburg Syndrome Type Ivb 23 68
Waardenburg Syndrome 4b 68 25
Ws4b 23 68
Waardenburg Syndrome with Hirschsprung Disease, Type 4b 23
 
Waardenburg Syndrome with Hirschsprung Disease Type 4b 68
Hirschsprung Disease with Pigmentary Anomaly 68
Shah-Waardenburg Syndrome 68
Waardenburg-Shah Syndrome 68

Characteristics:

HPO:

62


Classifications:



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OMIM50 613265
MedGen35 C2750457
MeSH37 D014849

Summaries for Waardenburg Syndrome, Type 4b

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OMIM:50 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). Affiliated tissues include eye and skin.

UniProtKB/Swiss-Prot:68 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 for Waardenburg Syndrome, Type 4b

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Symptoms by clinical synopsis from OMIM:

613265

Clinical features from OMIM:

613265

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

(show all 9)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment HP:0000407
2 blue irides HP:0000635
3 hypopigmented skin patches HP:0001053
4 heterochromia iridis HP:0001100
5 white forelock HP:0002211
6 premature graying of hair HP:0002216
7 white eyebrow HP:0002226
8 white eyelashes HP:0002227
9 aganglionic megacolon HP:0002251

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 4b25
2 Waardenburg Syndrome Type Ivb23 EDN3

Anatomical Context for Waardenburg Syndrome, Type 4b

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

34
Eye, Skin

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

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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:

68
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
1EDN3EDN3, 262GC-Tundetermined variantPathogenic
2EDN3NM_207034.2(EDN3): c.476G> T (p.Cys159Phe)single nucleotide variantPathogenicrs74315384GRCh37Chr 20, 57896182: 57896182
3EDN3NM_207034.2(EDN3): c.507C> A (p.Cys169Ter)single nucleotide variantPathogenicrs74315385GRCh37Chr 20, 57896213: 57896213
4EDN3NM_207034.2(EDN3): c.335A> G (p.His112Arg)single nucleotide variantPathogenicrs267606778GRCh37Chr 20, 57876747: 57876747
5EDN3NM_207034.2(EDN3): c.277C> G (p.Arg93Gly)single nucleotide variantPathogenicrs267606779GRCh37Chr 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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Sources for Waardenburg Syndrome, Type 4b

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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