MCID: WRD019
MIFTS: 28

Waardenburg Syndrome, Type 4b

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

Aliases & Classifications for Waardenburg Syndrome, Type 4b

MalaCards integrated aliases for Waardenburg Syndrome, Type 4b:

Name: Waardenburg Syndrome, Type 4b 54 13 69
Waardenburg Syndrome Type Ivb 12 24 71
Ws4b 12 24 71
Waardenburg Syndrome with Hirschsprung Disease Type 4b 12 71
Waardenburg Syndrome Type 4b 12 29
Waardenburg Syndrome with Hirschsprung Disease, Type 4b 24
Hirschsprung Disease with Pigmentary Anomaly 71
Waardenburg Syndrome, Type 4a 69
Shah-Waardenburg Syndrome 71
Waardenburg-Shah Syndrome 71
Waardenburg Syndrome 4b 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
genetic heterogeneity
incomplete penetrance of some features
variable severity, intrafamilial
both homozygous and heterozygous edn3 mutations have been found


HPO:

32

Classifications:



Summaries for Waardenburg Syndrome, Type 4b

OMIM : 54
Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997). WS type 4B is caused by mutation in the EDN3 gene (131242). WS type 4 is genetically heterogeneous (see WS4A; 277580). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS2 (193510), and WS3 (148820). (613265)

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 white forelock, sensorineural hearing impairment and premature graying of hair. An important gene associated with Waardenburg Syndrome, Type 4b is EDN3 (Endothelin 3). Affiliated tissues include eye and skin.

UniProtKB/Swiss-Prot : 71 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

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

id Related Disease Score Top Affiliating Genes
1 pcwh syndrome 11.9
2 waardenburg syndrome, type 4a 11.1
3 waardenburg syndrome, type 4c 11.1
4 waardenburg syndrome type 4 11.1

Symptoms & Phenotypes for Waardenburg Syndrome, Type 4b

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
deafness, sensorineural

Abdomen- Gastroin testinal:
hirschsprung disease
decreased myenteric and submucosal ganglia in the bowel

Skin Nails & Hair- Skin:
hypopigmented skin patches

Skin Nails & Hair- Hair:
white forelock
white eyelashes
white eyebrows
premature graying

Head And Neck- Eyes:
bright blue irides
hypopigmented irides


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 white forelock 32 HP:0002211
2 sensorineural hearing impairment 32 HP:0000407
3 premature graying of hair 32 HP:0002216
4 hypopigmented skin patches 32 HP:0001053
5 heterochromia iridis 32 HP:0001100
6 white eyelashes 32 HP:0002227
7 blue irides 32 HP:0000635
8 aganglionic megacolon 32 HP:0002251
9 white eyebrow 32 HP:0002226

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:

71
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 EDN3, 262GC-T undetermined variant Pathogenic
2 EDN3 NM_207034.2(EDN3): c.476G> T (p.Cys159Phe) single nucleotide variant Pathogenic rs74315384 GRCh37 Chromosome 20, 57896182: 57896182
3 EDN3 NM_207034.2(EDN3): c.507C> A (p.Cys169Ter) single nucleotide variant Pathogenic rs74315385 GRCh37 Chromosome 20, 57896213: 57896213
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

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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