MCID: WRD022
MIFTS: 21

Waardenburg Syndrome, Type 2d

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

Aliases & Classifications for Waardenburg Syndrome, Type 2d

MalaCards integrated aliases for Waardenburg Syndrome, Type 2d:

Name: Waardenburg Syndrome, Type 2d 57 13 40
Waardenburg Syndrome Type 2d 12 29 6
Ws2d 57 12 75
Waardenburg Syndrome, Type Iid 57 73
Waardenburg Syndrome Type Iid 12
Waardenburg Syndrome 2d 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

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


Classifications:



External Ids:

OMIM 57 608890
Disease Ontology 12 DOID:0110952
MedGen 42 C1837203
MeSH 44 D014849
UMLS 73 C1837203

Summaries for Waardenburg Syndrome, Type 2d

OMIM : 57 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 : 75 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 via clinical synopsis from OMIM:

57
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:

32
# 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:

# Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2d 29 SNAI2

Anatomical Context for Waardenburg Syndrome, Type 2d

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

41
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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