MCID: WRD019
MIFTS: 29

Waardenburg Syndrome, Type 4b

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

Aliases & Classifications for Waardenburg Syndrome, Type 4b

MalaCards integrated aliases for Waardenburg Syndrome, Type 4b:

Name: Waardenburg Syndrome, Type 4b 57 13 40 73
Waardenburg Syndrome Type 4b 12 29 6
Ws4b 57 12 75
Waardenburg Syndrome with Hirschsprung Disease Type 4b 12 75
Waardenburg Syndrome Type Ivb 12 75
Waardenburg Syndrome, Type 4b, with Hirschsprung Disease 57
Hirschsprung Disease with Pigmentary Anomaly 75
Waardenburg Syndrome, Type Ivb 57
Waardenburg Syndrome, Type 4a 73
Waardenburg-Shah Syndrome 75
Shah-Waardenburg Syndrome 75
Waardenburg Syndrome 4b 75

Characteristics:

OMIM:

57
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:

32

Classifications:



Summaries for Waardenburg Syndrome, Type 4b

OMIM : 57 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 4b, is related to peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease and waardenburg syndrome, type 4a. An important gene associated with Waardenburg Syndrome, Type 4b is EDN3 (Endothelin 3). Affiliated tissues include eye and skin, and related phenotypes are sensorineural hearing impairment and hypopigmented skin patches

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.

UniProtKB/Swiss-Prot : 75 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

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 via clinical synopsis from OMIM:

57
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 Gastrointestinal:
hirschsprung disease
decreased myenteric and submucosal ganglia in the bowel


Clinical features from OMIM:

613265

Human phenotypes related to Waardenburg Syndrome, Type 4b:

32 (show all 9)
# 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

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 29 EDN3

Anatomical Context for Waardenburg Syndrome, Type 4b

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

41
Eye, Skin

Publications for Waardenburg Syndrome, Type 4b

Articles related to Waardenburg Syndrome, Type 4b:

# Title Authors Year
1
Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus. ( 19764031 )
2009
2
Long segment Hirschsprung's disease in the Waardenburg-Shah syndrome. ( 12811477 )
2003
3
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome. ( 11546831 )
2001
4
Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2. ( 10973953 )
2000

Variations for Waardenburg Syndrome, Type 4b

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

75
# 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.476G> T (p.Cys159Phe) single nucleotide variant Pathogenic rs74315384 GRCh38 Chromosome 20, 59321127: 59321127
4 EDN3 NM_207034.2(EDN3): c.507C> A (p.Cys169Ter) single nucleotide variant Pathogenic rs74315385 GRCh37 Chromosome 20, 57896213: 57896213
5 EDN3 NM_207034.2(EDN3): c.507C> A (p.Cys169Ter) single nucleotide variant Pathogenic rs74315385 GRCh38 Chromosome 20, 59321158: 59321158
6 EDN3 NM_207034.2(EDN3): c.335A> G (p.His112Arg) single nucleotide variant Pathogenic rs267606778 GRCh37 Chromosome 20, 57876747: 57876747
7 EDN3 NM_207034.2(EDN3): c.335A> G (p.His112Arg) single nucleotide variant Pathogenic rs267606778 GRCh38 Chromosome 20, 59301692: 59301692
8 EDN3 NM_207034.2(EDN3): c.277C> G (p.Arg93Gly) single nucleotide variant Pathogenic rs267606779 GRCh37 Chromosome 20, 57876689: 57876689
9 EDN3 NM_207034.2(EDN3): c.277C> G (p.Arg93Gly) single nucleotide variant Pathogenic rs267606779 GRCh38 Chromosome 20, 59301634: 59301634

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
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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49 NCI
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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