WS4B
MCID: WRD019
MIFTS: 34

Waardenburg Syndrome, Type 4b (WS4B) malady

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

Aliases & Classifications for Waardenburg Syndrome, Type 4b

Aliases & Descriptions for Waardenburg Syndrome, Type 4b:

Name: Waardenburg Syndrome, Type 4b 54 13 69
Waardenburg Syndrome Type Ivb 12 24 66
Ws4b 12 24 66
Waardenburg Syndrome with Hirschsprung Disease Type 4b 12 66
Waardenburg Syndrome 4b 66 29
Waardenburg Syndrome with Hirschsprung Disease, Type 4b 24
Hirschsprung Disease with Pigmentary Anomaly 66
Waardenburg Syndrome, Type 4a 69
Waardenburg Syndrome Type 4b 12
Shah-Waardenburg Syndrome 66
Waardenburg-Shah Syndrome 66

Characteristics:

HPO:

32

Classifications:



External Ids:

OMIM 54 613265
Disease Ontology 12 DOID:0110954
MedGen 40 C2750457
MeSH 42 D014849

Summaries for Waardenburg Syndrome, Type 4b

OMIM : 54 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, hypopigmented skin patches and heterochromia iridis. An important gene associated with Waardenburg Syndrome, Type 4b is EDN3 (Endothelin 3), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Endothelins. Affiliated tissues include eye and skin, and related phenotype is pigmentation.

UniProtKB/Swiss-Prot : 66 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).

Disease Ontology : 12 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 homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13.

Related Diseases for Waardenburg Syndrome, Type 4b

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



Diseases related to Waardenburg Syndrome, Type 4b

Symptoms & Phenotypes for Waardenburg Syndrome, Type 4b

Symptoms by clinical synopsis from OMIM:

613265

Clinical features from OMIM:

613265

Human phenotypes related to Waardenburg Syndrome, Type 4b:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 hypopigmented skin patches 32 HP:0001053
3 heterochromia iridis 32 HP:0001100
4 premature graying of hair 32 HP:0002216
5 aganglionic megacolon 32 HP:0002251
6 blue irides 32 HP:0000635
7 white forelock 32 HP:0002211
8 white eyebrow 32 HP:0002226
9 white eyelashes 32 HP:0002227

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 EDN3 EDNRB

Drugs & Therapeutics for Waardenburg Syndrome, Type 4b

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

Genetic Tests for Waardenburg Syndrome, Type 4b

Genetic tests related to Waardenburg Syndrome, Type 4b:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 4b 29
2 Waardenburg Syndrome Type Ivb 24 EDN3

Anatomical Context for Waardenburg Syndrome, Type 4b

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

39
Eye, Skin

Publications for Waardenburg Syndrome, Type 4b

Variations for Waardenburg Syndrome, Type 4b

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

66
id Symbol AA change Variation ID SNP ID
1 EDN3 p.Cys159Phe VAR_002353 rs74315384
2 EDN3 p.Tyr127Cys VAR_015238 rs752400458

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 EDN3 NM_207034.2(EDN3): c.507C> A (p.Cys169Ter) single nucleotide variant Pathogenic rs74315385 GRCh37 Chromosome 20, 57896213: 57896213
2 EDN3 EDN3, 262GC-T undetermined variant Pathogenic
3 EDN3 NM_207034.2(EDN3): c.476G> T (p.Cys159Phe) single nucleotide variant Pathogenic rs74315384 GRCh37 Chromosome 20, 57896182: 57896182
4 EDN3 NM_207034.2(EDN3): c.335A> G (p.His112Arg) single nucleotide variant Pathogenic rs267606778 GRCh37 Chromosome 20, 57876747: 57876747
5 EDN3 NM_207034.2(EDN3): c.277C> G (p.Arg93Gly) single nucleotide variant Pathogenic rs267606779 GRCh37 Chromosome 20, 57876689: 57876689

Expression for Waardenburg Syndrome, Type 4b

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

Pathways for Waardenburg Syndrome, Type 4b

GO Terms for Waardenburg Syndrome, Type 4b

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.37 EDN3 EDNRB
2 cell surface receptor signaling pathway GO:0007166 9.32 EDN3 EDNRB
3 neural crest cell migration GO:0001755 9.26 EDN3 EDNRB
4 melanocyte differentiation GO:0030318 9.16 EDN3 EDNRB
5 vasoconstriction GO:0042310 8.96 EDN3 EDNRB
6 vein smooth muscle contraction GO:0014826 8.62 EDN3 EDNRB

Sources for Waardenburg Syndrome, Type 4b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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