MCID: WRD019
MIFTS: 29

Waardenburg Syndrome, Type 4b

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

Aliases & Classifications for Waardenburg Syndrome, Type 4b

MalaCards integrated aliases for Waardenburg Syndrome, Type 4b:

Name: Waardenburg Syndrome, Type 4b 53 13 69
Ws4b 53 12 71
Waardenburg Syndrome with Hirschsprung Disease Type 4b 12 71
Waardenburg Syndrome Type Ivb 12 71
Waardenburg Syndrome Type 4b 12 28
Waardenburg Syndrome, Type 4b, with Hirschsprung Disease 53
Hirschsprung Disease with Pigmentary Anomaly 71
Waardenburg Syndrome, Type Ivb 53
Waardenburg Syndrome, Type 4a 69
Waardenburg-Shah Syndrome 71
Shah-Waardenburg Syndrome 71
Waardenburg Syndrome 4b 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

31

Classifications:



Summaries for Waardenburg Syndrome, Type 4b

OMIM : 53 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 ws4b, is related to peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 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). 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

Symptoms & Phenotypes for Waardenburg Syndrome, Type 4b

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Skin:
hypopigmented skin patches

Head And Neck Ears:
deafness, sensorineural

Head And Neck Eyes:
bright blue irides
hypopigmented irides

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

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


Clinical features from OMIM:

613265

Human phenotypes related to Waardenburg Syndrome, Type 4b:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 hypopigmented skin patches 31 HP:0001053
3 heterochromia iridis 31 HP:0001100
4 premature graying of hair 31 HP:0002216
5 aganglionic megacolon 31 HP:0002251
6 blue irides 31 HP:0000635
7 white forelock 31 HP:0002211
8 white eyebrow 31 HP:0002226
9 white eyelashes 31 HP:0002227

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:

# Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 4b 28 EDN3

Anatomical Context for Waardenburg Syndrome, Type 4b

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

38
Eye, Skin

Publications for Waardenburg Syndrome, Type 4b

Articles related to Waardenburg Syndrome, Type 4b:

# Title Authors Year
1
Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. ( 16504559 )
2006
2
A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome. ( 11565556 )
2001
3
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah- Waardenburg syndrome). ( 8630503 )
1996
4
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). ( 8630502 )
1996

Variations for Waardenburg Syndrome, Type 4b

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

71
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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