MCID: WRD022
MIFTS: 21

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

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Aliases & Descriptions for Waardenburg Syndrome, Type 2d:

Name: Waardenburg Syndrome, Type 2d 52 12
Waardenburg Syndrome 2d 70 27
Waardenburg Syndrome, Type Iid 68
 
Waardenburg Syndrome Type Iid 24
Ws2d 70

Characteristics:

HPO:

64
waardenburg syndrome, type 2d:
Inheritance: autosomal recessive inheritance, heterogeneous

Classifications:



External Ids:

OMIM52 608890
MedGen37 C1837203
MeSH39 D014849

Summaries for Waardenburg Syndrome, Type 2d

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OMIM:52 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:70 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

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Symptoms & Phenotypes for Waardenburg Syndrome, Type 2d

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Symptoms by clinical synopsis from OMIM:

608890

Clinical features from OMIM:

608890

Human phenotypes related to Waardenburg Syndrome, Type 2d:

 64
id Description HPO Frequency HPO Source Accession
1 telecanthus64 HP:0000506
2 heterochromia iridis64 HP:0001100
3 congenital sensorineural hearing impairment64 HP:0008527

Drugs & Therapeutics for Waardenburg Syndrome, Type 2d

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Interventional clinical trials:

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

Genetic Tests for Waardenburg Syndrome, Type 2d

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Genetic tests related to Waardenburg Syndrome, Type 2d:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2d27
2 Waardenburg Syndrome Type Iid24 SNAI2

Anatomical Context for Waardenburg Syndrome, Type 2d

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

36
Skin, Eye

Publications for Waardenburg Syndrome, Type 2d

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Variations for Waardenburg Syndrome, Type 2d

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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
2SNAI2NG_012130.1: g.(?_5165)_(7623_?)deldeletionPathogenicGRCh37Chr 8, 49831366: 49833824

Expression for genes affiliated with Waardenburg Syndrome, Type 2d

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

Pathways for genes affiliated with Waardenburg Syndrome, Type 2d

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

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Sources for Waardenburg Syndrome, Type 2d

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet