WS2D
MCID: WRD022
MIFTS: 34

Waardenburg Syndrome, Type 2d (WS2D)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal 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 57 13 39
Waardenburg Syndrome Type 2d 12 29 6 15
Ws2d 57 12 72
Waardenburg Syndrome, Type Iid 57 70
Waardenburg Syndrome Type Iid 12
Waardenburg Syndrome 2d 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110952
OMIM® 57 608890
OMIM Phenotypic Series 57 PS193500
MeSH 44 D014849
MedGen 41 C1837203
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Waardenburg Syndrome, Type 2d, also known as waardenburg syndrome type 2d, is related to tonsil cancer and waardenburg syndrome, type 2b. An important gene associated with Waardenburg Syndrome, Type 2d is SNAI2 (Snail Family Transcriptional Repressor 2), and among its related pathways/superpathways are Neural Crest Differentiation and Regulation of retinoblastoma protein. Affiliated tissues include eye and tonsil, and related phenotypes are heterochromia iridis and telecanthus

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 : 72 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

Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 2a Waardenburg Syndrome, Type 4a
Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 2c
Waardenburg Syndrome, Type 2d Waardenburg Syndrome, Type 2e
Waardenburg Syndrome, Type 4b Waardenburg Syndrome, Type 4c
Waardenburg Syndrome Type 4

Diseases related to Waardenburg Syndrome, Type 2d via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 tonsil cancer 10.1 SOX10 SNAI2
2 waardenburg syndrome, type 2b 10.0 SOX10 MITF
3 gallbladder melanoma 10.0 SOX10 MITF
4 malignant choroid melanoma 10.0 SOX10 MITF
5 malignant spindle cell melanoma 10.0 SOX10 MITF
6 kleefstra syndrome 1 10.0 ZMYND19 PAGR1 ARRDC1-AS1
7 cochlear disease 10.0 SOX10 EDNRB
8 large congenital melanocytic nevus 10.0 SOX10 MITF
9 crest syndrome 9.9 SOX10 EDNRB
10 melanoma in congenital melanocytic nevus 9.9 SOX10 MITF
11 clear cell sarcoma 9.9 SOX10 MITF
12 mowat-wilson syndrome 9.9 SOX10 EDNRB
13 actinic keratosis 9.9 SOX10 MITF
14 neurilemmoma 9.8 SOX10 MITF
15 craniofacial-deafness-hand syndrome 9.8 PAX3 CDH7
16 ocular albinism with congenital sensorineural deafness 9.8 PAX3 MITF
17 albinism, ocular, with late-onset sensorineural deafness 9.8 PAX3 MITF
18 waardenburg syndrome, type 2c 9.7 SOX10 MITF EDNRB
19 waardenburg syndrome type 4 9.7 SOX10 MITF EDNRB
20 neurofibroma 9.7 SOX10 MITF
21 orofacial cleft 9.6 SOX10 PAX3 PAGR1
22 megacolon 9.5 SOX10 PAX3 EDNRB
23 waardenburg syndrome, type 4c 9.3 SOX10 PAX3 MITF EDNRB
24 waardenburg syndrome, type 2a 9.3 SOX10 PAX3 MITF EDNRB
25 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.3 SOX10 PAX3 MITF EDNRB
26 rare genetic deafness 9.3 SOX10 PAX3 MITF EDNRB
27 waardenburg syndrome, type 4b 9.1 SOX10 SNAI2 PAX3 MITF EDNRB
28 tietz albinism-deafness syndrome 9.1 SOX10 SNAI2 PAX3 MITF EDNRB
29 waardenburg syndrome, type 3 9.1 SOX10 SNAI2 PAX3 MITF EDNRB
30 waardenburg syndrome, type 2e 9.1 SOX10 SNAI2 PAX3 MITF EDNRB
31 waardenburg syndrome, type 1 9.1 SOX10 SNAI2 PAX3 MITF EDNRB
32 piebald trait 9.1 SOX10 SNAI2 PAX3 MITF EDNRB
33 hirschsprung disease 1 9.1 SOX10 SNAI2 PAX3 MITF EDNRB
34 waardenburg's syndrome 9.0 SOX10 SNAI2 PAX3 PAGR1 MITF EDNRB
35 waardenburg syndrome, type 4a 8.9 SOX10 SNAI2 PAX3 MITF EDNRB CDH7

Graphical network of the top 20 diseases related to Waardenburg Syndrome, Type 2d:



Diseases related to Waardenburg Syndrome, Type 2d

Symptoms & Phenotypes for Waardenburg Syndrome, Type 2d

Human phenotypes related to Waardenburg Syndrome, Type 2d:

31
# Description HPO Frequency HPO Source Accession
1 heterochromia iridis 31 HP:0001100
2 telecanthus 31 HP:0000506
3 congenital sensorineural hearing impairment 31 HP:0008527

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
heterochromia iridis
dystopia canthorum absent

Head And Neck Ears:
congenital sensorineural deafness

Clinical features from OMIM®:

608890 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.63 EDNRB MITF PAGR1 PAX3 SNAI2 SOX10
2 nervous system MP:0003631 9.5 EDNRB MITF PAGR1 PAX3 RAB3C SNAI2
3 pigmentation MP:0001186 9.02 EDNRB MITF PAX3 SNAI2 SOX10

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:

40
Eye, Tonsil

Publications for Waardenburg Syndrome, Type 2d

Articles related to Waardenburg Syndrome, Type 2d:

# Title Authors PMID Year
1
SLUG (SNAI2) deletions in patients with Waardenburg disease. 57 6
12444107 2002
2
Zinc-finger transcription factor Slug contributes to the function of the stem cell factor c-kit signaling pathway. 57
12149208 2002
3
Waardenburg syndrome. 57
9279758 1997
4
[Estimation of acute left ventricular afterload alterations. Transesophageal echocardiography in artificially respirated patients]. 61
7702183 1995

Variations for Waardenburg Syndrome, Type 2d

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SNAI2 NG_012130.1:g.(?_5165)_(7623_?)del Deletion Pathogenic 7503 GRCh37: 8:49831366-49833824
GRCh38: 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

Pathways related to Waardenburg Syndrome, Type 2d according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.03 SOX10 SNAI2 PAX3 MITF CDH7
2 10.9 PAX3 MITF
3 10.74 SOX10 PAX3 MITF

GO Terms for Waardenburg Syndrome, Type 2d

Biological processes related to Waardenburg Syndrome, Type 2d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.67 SOX10 SNAI2 MITF EDNRB
2 neural crest cell migration GO:0001755 9.32 SOX10 EDNRB
3 peripheral nervous system development GO:0007422 9.26 SOX10 EDNRB
4 enteric nervous system development GO:0048484 9.16 SOX10 EDNRB
5 pigmentation GO:0043473 9.13 SNAI2 MITF EDNRB
6 melanocyte differentiation GO:0030318 8.8 SOX10 MITF EDNRB

Molecular functions related to Waardenburg Syndrome, Type 2d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 E-box binding GO:0070888 8.62 SNAI2 MITF

Sources for Waardenburg Syndrome, Type 2d

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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