WS2D
MCID: WRD022
MIFTS: 22

Waardenburg Syndrome, Type 2d (WS2D) malady

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

Aliases & Classifications for Waardenburg Syndrome, Type 2d

Aliases & Descriptions for Waardenburg Syndrome, Type 2d:

Name: Waardenburg Syndrome, Type 2d 54 13
Waardenburg Syndrome Type Iid 12 24
Waardenburg Syndrome 2d 66 29
Ws2d 12 66
Waardenburg Syndrome, Type Iid 69
Waardenburg Syndrome Type 2d 12

Characteristics:

HPO:

32
waardenburg syndrome, type 2d:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 608890
Disease Ontology 12 DOID:0110952
MedGen 40 C1837203
MeSH 42 D014849

Summaries for Waardenburg Syndrome, Type 2d

OMIM : 54 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 type iid, 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.

Disease Ontology : 12 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in homozygous deletion of the SNAI2 gene on chromosome 8q11.

UniProtKB/Swiss-Prot : 66 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

Symptoms & Phenotypes for Waardenburg Syndrome, Type 2d

Symptoms by clinical synopsis from OMIM:

608890

Clinical features from OMIM:

608890

Human phenotypes related to Waardenburg Syndrome, Type 2d:

32
id Description HPO Frequency HPO Source Accession
1 telecanthus 32 HP:0000506
2 heterochromia iridis 32 HP:0001100
3 congenital sensorineural hearing impairment 32 HP:0008527

Drugs & Therapeutics for Waardenburg Syndrome, Type 2d

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

Genetic Tests for Waardenburg Syndrome, Type 2d

Genetic tests related to Waardenburg Syndrome, Type 2d:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2d 29
2 Waardenburg Syndrome Type Iid 24 SNAI2

Anatomical Context for Waardenburg Syndrome, Type 2d

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

39
Skin, Eye

Publications for Waardenburg Syndrome, Type 2d

Variations for Waardenburg Syndrome, Type 2d

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SNAI2 NG_012130.1: g.(?_5165)_(7623_?)del deletion Pathogenic GRCh37 Chromosome 8, 49831366: 49833824
2 SNAI2 NG_012130.1: g.(?_5165)_(7623_?)del deletion Pathogenic GRCh37 Chromosome 8, 49831366: 49833824

Expression for Waardenburg Syndrome, Type 2d

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

Pathways for Waardenburg Syndrome, Type 2d

GO Terms for Waardenburg Syndrome, Type 2d

Sources for Waardenburg Syndrome, Type 2d

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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