MCID: WRD022
MIFTS: 22

Waardenburg Syndrome, Type 2d malady

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

Aliases & Classifications for Waardenburg Syndrome, Type 2d

About this section

Aliases & Descriptions for Waardenburg Syndrome, Type 2d:

Name: Waardenburg Syndrome, Type 2d 50 12
Waardenburg Syndrome 2d 68 25
 
Waardenburg Syndrome Type Iid 23
Ws2d 68

Characteristics:

HPO:

62
waardenburg syndrome, type 2d:
Inheritance: autosomal recessive inheritance, heterogeneous


Classifications:



External Ids:

OMIM50 608890
MedGen35 C1837203
MeSH37 D014849

Summaries for Waardenburg Syndrome, Type 2d

About this section
OMIM:50 Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair,... (608890) more...

MalaCards based summary: Waardenburg Syndrome, Type 2d, is also known as waardenburg syndrome 2d, and has symptoms including telecanthus, heterochromia iridis and congenital sensorineural hearing impairment. An important gene associated with Waardenburg Syndrome, Type 2d is SNAI2 (Snail Family Transcriptional Repressor 2). Affiliated tissues include skin and eye.

UniProtKB/Swiss-Prot:68 Waardenburg syndrome 2D: WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.

Related Diseases for Waardenburg Syndrome, Type 2d

About this section

Symptoms for Waardenburg Syndrome, Type 2d

About this section

Symptoms by clinical synopsis from OMIM:

608890

Clinical features from OMIM:

608890

HPO human phenotypes related to Waardenburg Syndrome, Type 2d:

id Description Frequency HPO Source Accession
1 telecanthus HP:0000506
2 heterochromia iridis HP:0001100
3 congenital sensorineural hearing impairment HP:0008527

Drugs & Therapeutics for Waardenburg Syndrome, Type 2d

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Waardenburg Syndrome, Type 2d

Genetic Tests for Waardenburg Syndrome, Type 2d

About this section

Genetic tests related to Waardenburg Syndrome, Type 2d:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2d25
2 Waardenburg Syndrome Type Iid23 SNAI2

Anatomical Context for Waardenburg Syndrome, Type 2d

About this section

MalaCards organs/tissues related to Waardenburg Syndrome, Type 2d:

34
Skin, Eye

Animal Models for Waardenburg Syndrome, Type 2d or affiliated genes

About this section

Publications for Waardenburg Syndrome, Type 2d

About this section

Variations for Waardenburg Syndrome, Type 2d

About this section

Clinvar genetic disease variations for Waardenburg Syndrome, Type 2d:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SNAI2NG_012130.1: g.(?_5165)_(7623_?)deldeletionPathogenicGRCh37Chr 8, 49831366: 49833824

Expression for genes affiliated with Waardenburg Syndrome, Type 2d

About this section
Search GEO for disease gene expression data for Waardenburg Syndrome, Type 2d.

Pathways for genes affiliated with Waardenburg Syndrome, Type 2d

About this section

GO Terms for genes affiliated with Waardenburg Syndrome, Type 2d

About this section

Sources for Waardenburg Syndrome, Type 2d

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet