WS2D
MCID: WRD022
MIFTS: 35

Waardenburg Syndrome, Type 2d (WS2D)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Waardenburg Syndrome, Type 2d

MalaCards integrated aliases for Waardenburg Syndrome, Type 2d:

Name: Waardenburg Syndrome, Type 2d 57 12
Waardenburg Syndrome Type 2d 11 28 5 14
Ws2d 57 11 73
Waardenburg Syndrome, Type Iid 57 71
Waardenburg Syndrome Type Iid 11
Waardenburg Syndrome 2d 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
genetic heterogeneity


Classifications:



External Ids:

Disease Ontology 11 DOID:0110952
OMIM® 57 608890
OMIM Phenotypic Series 57 PS193500
MeSH 43 D014849
MedGen 40 C1837203
SNOMED-CT via HPO 69 247033008 700453005
UMLS 71 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 24-Oct-2022)

MalaCards based summary: Waardenburg Syndrome, Type 2d, also known as waardenburg syndrome type 2d, is related to fibrous histiocytoma and split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive. 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 skin, and related phenotypes are heterochromia iridis and congenital sensorineural hearing impairment

Disease Ontology: 11 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: 73 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 2f

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 fibrous histiocytoma 10.1 SOX10 MITF
2 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 10.1 SOX10 SNAI2
3 spinal cord melanoma 10.1 SOX10 MITF
4 cervix melanoma 10.1 SOX10 MITF
5 gallbladder melanoma 10.1 SOX10 MITF
6 malignant spindle cell melanoma 10.1 SOX10 MITF
7 nodular malignant melanoma 10.1 SOX10 MITF
8 perivascular tumor 10.1 SOX10 MITF
9 epilepsy, familial temporal lobe, 6 10.1 EDNRB EDN3
10 cochlear disease 10.1 EDNRB EDN3
11 amelanotic melanoma 10.1 SOX10 MITF
12 mucosal melanoma 10.1 SOX10 MITF
13 central hypoventilation syndrome, congenital, 1 10.1 EDNRB EDN3
14 large congenital melanocytic nevus 10.0 SOX10 MITF
15 goldberg-shprintzen syndrome 10.0 EDNRB EDN3
16 albinism, ocular, with late-onset sensorineural deafness 10.0 PAX3 MITF
17 clear cell sarcoma 10.0 SOX10 MITF
18 cutaneous fibrous histiocytoma 10.0 SOX10 PAGR1 MITF
19 branchiooculofacial syndrome 10.0 SOX10 PAX3
20 spindle cell sarcoma 9.9 SOX10 PAX3
21 melanoma in congenital melanocytic nevus 9.9 SOX10 MITF
22 mowat-wilson syndrome 9.9 SOX10 EDNRB EDN3
23 myxofibrosarcoma 9.9 SOX10 PAX3
24 intestinal pseudo-obstruction 9.9 SOX10 EDNRB EDN3
25 congenital central hypoventilation syndrome 9.9 SOX10 EDNRB EDN3
26 craniofacial-deafness-hand syndrome 9.9 PAX3 CDH7
27 alveolar soft part sarcoma 9.8 PAX3 MITF
28 intestinal obstruction 9.7 EDNRB EDN3
29 megacolon 9.7 SOX10 PAX3 EDNRB EDN3
30 rare genetic deafness 9.6 SOX10 PAX3 MITF EDNRB
31 kleefstra syndrome 1 9.6 ZMYND19 PAGR1 ARRDC1-AS1
32 coloboma of macula 9.6 SOX10 PAX3 MITF CDH7
33 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.5 SOX10 PAX3 MITF EDNRB EDN3
34 sensorineural hearing loss 9.4 SOX10 PAX3 MITF EDNRB EDN3
35 waardenburg syndrome, type 4c 9.3 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
36 tietz albinism-deafness syndrome 9.3 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
37 waardenburg syndrome, type 1 9.3 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
38 waardenburg syndrome, type 4a 9.3 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
39 piebald trait 9.3 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
40 waardenburg's syndrome 9.3 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
41 hirschsprung disease 1 9.3 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
42 waardenburg syndrome, type 2c 9.3 SOX10 PAX3 MITF EDNRB EDN3 C2orf74
43 waardenburg syndrome, type 2b 9.3 SOX10 PAX3 MITF EDNRB EDN3 C2orf74
44 waardenburg syndrome, type 2e 9.2 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
45 waardenburg syndrome, type 2a 9.2 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
46 waardenburg syndrome, type 3 9.2 SOX10 SNAI2 PAX3 MITF EDNRB EDN3

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 heterochromia iridis 30 Very rare (1%) HP:0001100
2 congenital sensorineural hearing impairment 30 Very rare (1%) HP:0008527

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Eyes:
heterochromia iridis
dystopia canthorum absent

Head And Neck Ears:
congenital sensorineural deafness

Clinical features from OMIM®:

608890 (Updated 24-Oct-2022)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.8 EDN3 EDNRB MITF PAX3 SNAI2 SOX10
2 embryo MP:0005380 9.8 EDN3 EDNRB MITF PAGR1 PAX3 SNAI2
3 digestive/alimentary MP:0005381 9.63 C2orf74 EDN3 EDNRB PAX3 SNAI2 SOX10
4 behavior/neurological MP:0005386 9.56 C2orf74 CDH7 EDN3 EDNRB MITF PAX3
5 integument MP:0010771 9.1 EDN3 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 28 SNAI2

Anatomical Context for Waardenburg Syndrome, Type 2d

Organs/tissues related to Waardenburg Syndrome, Type 2d:

MalaCards : Eye, Skin
ODiseA: Skin

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 5
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
Unveiling Mechanism of Organic Photogenerator for Hydroxyl Radicals Generation by Molecular Modulation. 62
34850563 2022
5
[Estimation of acute left ventricular afterload alterations. Transesophageal echocardiography in artificially respirated patients]. 62
7702183 1995

Variations for Waardenburg Syndrome, Type 2d

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SNAI2 NG_012130.1:g.(?_5165)_(7623_?)del DEL 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 11 PAX3 MITF
3 10.74 SOX10 PAX3 MITF
4 10.66 EDNRB EDN3

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 peripheral nervous system development GO:0007422 9.73 SOX10 EDNRB
2 neural crest cell migration GO:0001755 9.73 SOX10 EDNRB EDN3
3 vasoconstriction GO:0042310 9.71 EDNRB EDN3
4 enteric nervous system development GO:0048484 9.67 SOX10 EDNRB
5 blood circulation GO:0008015 9.63 EDNRB EDN3
6 vein smooth muscle contraction GO:0014826 9.46 EDNRB EDN3
7 regulation of biological quality GO:0065008 9.32 EDNRB EDN3
8 pigmentation GO:0043473 9.26 SNAI2 MITF EDNRB
9 melanocyte differentiation GO:0030318 9.23 SOX10 MITF EDNRB EDN3

Sources for Waardenburg Syndrome, Type 2d

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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