WS2D
MCID: WRD022
MIFTS: 23

Waardenburg Syndrome, Type 2d (WS2D)

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

Aliases & Classifications for Waardenburg Syndrome, Type 2d

MalaCards integrated aliases for Waardenburg Syndrome, Type 2d:

Name: Waardenburg Syndrome, Type 2d 58 13 41
Waardenburg Syndrome Type 2d 12 30 6 15
Ws2d 58 12 76
Waardenburg Syndrome, Type Iid 58 74
Waardenburg Syndrome Type Iid 12
Waardenburg Syndrome 2d 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

33
waardenburg syndrome, type 2d:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110952
OMIM 58 608890
MeSH 45 D014849
MedGen 43 C1837203
UMLS 74 C1837203

Summaries for Waardenburg Syndrome, Type 2d

OMIM : 58 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 waardenburg syndrome type 2d. An important gene associated with Waardenburg Syndrome, Type 2d is SNAI2 (Snail Family Transcriptional Repressor 2). Affiliated tissues include skin and eye, and related phenotypes are telecanthus and heterochromia iridis

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 : 76 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

Human phenotypes related to Waardenburg Syndrome, Type 2d:

33
# Description HPO Frequency HPO Source Accession
1 telecanthus 33 HP:0000506
2 heterochromia iridis 33 HP:0001100
3 congenital sensorineural hearing impairment 33 HP:0008527

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
heterochromia iridis
dystopia canthorum absent

Head And Neck Ears:
congenital sensorineural deafness

Clinical features from OMIM:

608890

MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 2d:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.62 LPO SNAI2

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 30 SNAI2

Anatomical Context for Waardenburg Syndrome, Type 2d

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

42
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 GRCh38 Chromosome 8, 48918807: 48921265
3 SNAI2 NG_012130.1: g.(?_5165)_(7623_?)del deletion Pathogenic GRCh37 Chromosome 8, 49831366: 49833824
4 SNAI2 NG_012130.1: g.(?_5165)_(7623_?)del deletion Pathogenic GRCh38 Chromosome 8, 48918807: 48921265

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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