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

About this section

Aliases & Descriptions for Waardenburg Syndrome, Type 4b:

Name: Waardenburg Syndrome, Type 4b 49 11 65
Waardenburg Syndrome Type Ivb 22 67
Waardenburg Syndrome 4b 67 24
Ws4b 22 67
Waardenburg Syndrome with Hirschsprung Disease, Type 4b 22
 
Waardenburg Syndrome with Hirschsprung Disease Type 4b 67
Hirschsprung Disease with Pigmentary Anomaly 67
Waardenburg Syndrome, Type 4a 65
Waardenburg-Shah Syndrome 67
Shah-Waardenburg Syndrome 67

Characteristics:

HPO:

61


Classifications:



External Ids:

OMIM49 613265
MedGen34 C2750457
MeSH36 D014849
UMLS65 C2750457, C1848519

Summaries for Waardenburg Syndrome, Type 4b

About this section
OMIM:49 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's syndrome, 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:67 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

About this section

Symptoms for Waardenburg Syndrome, Type 4b

About this section

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

About this section

Interventional clinical trials:

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

Genetic Tests for Waardenburg Syndrome, Type 4b

About this section

Genetic tests related to Waardenburg Syndrome, Type 4b:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type Ivb22 EDN3

Anatomical Context for Waardenburg Syndrome, Type 4b

About this section

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

33
Eye, Skin

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

About this section

Publications for Waardenburg Syndrome, Type 4b

About this section

Variations for Waardenburg Syndrome, Type 4b

About this section

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

67
id Symbol AA change Variation ID SNP ID
1EDN3p.Cys159PheVAR_002353
2EDN3p.Tyr127CysVAR_015238

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000115.3(EDNRB): c.828G> T (p.Trp276Cys)single nucleotide variantPathogenic, risk factorrs104894387GRCh37Chr 13, 78475316: 78475316
2EDN3EDN3, 262GC-Tundetermined variantPathogenic
3EDN3NM_207034.2(EDN3): c.476G> T (p.Cys159Phe)single nucleotide variantPathogenicrs74315384GRCh37Chr 20, 57896182: 57896182
4EDN3NM_207034.2(EDN3): c.507C> A (p.Cys169Ter)single nucleotide variantPathogenicrs74315385GRCh37Chr 20, 57896213: 57896213
5EDN3NM_207034.2(EDN3): c.335A> G (p.His112Arg)single nucleotide variantPathogenicrs267606778GRCh37Chr 20, 57876747: 57876747
6EDN3NM_207034.2(EDN3): c.277C> G (p.Arg93Gly)single nucleotide variantPathogenicrs267606779GRCh37Chr 20, 57876689: 57876689

Expression for genes affiliated with Waardenburg Syndrome, Type 4b

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

Pathways for genes affiliated with Waardenburg Syndrome, Type 4b

About this section

GO Terms for genes affiliated with Waardenburg Syndrome, Type 4b

About this section

Sources for Waardenburg Syndrome, Type 4b

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet