MCID: WRD022
MIFTS: 21

Waardenburg Syndrome, Type 2d

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

Aliases & Classifications for Waardenburg Syndrome, Type 2d

MalaCards integrated aliases for Waardenburg Syndrome, Type 2d:

Name: Waardenburg Syndrome, Type 2d 53 13
Ws2d 53 12 71
Waardenburg Syndrome, Type Iid 53 69
Waardenburg Syndrome Type 2d 12 28
Waardenburg Syndrome Type Iid 12
Waardenburg Syndrome 2d 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

31
waardenburg syndrome, type 2d:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

OMIM 53 608890
Disease Ontology 12 DOID:0110952
MedGen 39 C1837203
MeSH 41 D014849
UMLS 69 C1837203

Summaries for Waardenburg Syndrome, Type 2d

OMIM : 53 Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). WS type 2D is caused by mutation in the SNAI2 gene (602150). Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580). (608890)

MalaCards based summary : Waardenburg Syndrome, Type 2d, is also known as ws2d, 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 : 71 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.

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.

Related Diseases for Waardenburg Syndrome, Type 2d

Symptoms & Phenotypes for Waardenburg Syndrome, Type 2d

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
congenital sensorineural deafness

Head And Neck Eyes:
dystopia canthorum absent
heterochromia iridis


Clinical features from OMIM:

608890

Human phenotypes related to Waardenburg Syndrome, Type 2d:

31
# Description HPO Frequency HPO Source Accession
1 telecanthus 31 HP:0000506
2 heterochromia iridis 31 HP:0001100
3 congenital sensorineural hearing impairment 31 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:

# Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2d 28 SNAI2

Anatomical Context for Waardenburg Syndrome, Type 2d

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

38
Skin, Eye

Publications for Waardenburg Syndrome, Type 2d

Variations for Waardenburg Syndrome, Type 2d

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

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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