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 49 11
Waardenburg Syndrome 2d 67 24
Waardenburg Syndrome, Type Iid 65
 
Waardenburg Syndrome Type Iid 22
Ws2d 67

Characteristics:

HPO:

61
waardenburg syndrome, type 2d:
Inheritance: autosomal recessive inheritance, heterogeneous


Classifications:



External Ids:

OMIM49 608890
MedGen34 C1837203
MeSH36 D014849
UMLS65 C1837203

Summaries for Waardenburg Syndrome, Type 2d

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OMIM:49 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 Zinc Finger 2). Affiliated tissues include eye and skin.

UniProtKB/Swiss-Prot:67 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 for Waardenburg Syndrome, Type 2d

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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

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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 Iid22 SNAI2

Anatomical Context for Waardenburg Syndrome, Type 2d

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

33
Eye, Skin

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

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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

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
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