WS2C
MCID: WRD026
MIFTS: 26

Waardenburg Syndrome, Type 2c (WS2C)

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

Aliases & Classifications for Waardenburg Syndrome, Type 2c

MalaCards integrated aliases for Waardenburg Syndrome, Type 2c:

Name: Waardenburg Syndrome, Type 2c 57 13 70
Waardenburg Syndrome Type 2c 12 29 15
Ws2c 57 12
Waardenburg Syndrome, Type Iic 57
Waardenburg Syndrome Type Iic 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110951
OMIM® 57 606662
OMIM Phenotypic Series 57 PS193500
UMLS 70 C1847722

Summaries for Waardenburg Syndrome, Type 2c

OMIM® : 57 Waardenburg syndrome type II (WS2) 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 (Selicorni et al., 2002). WS type 2C (WS2C) maps to chromosome 8p. 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). (606662) (Updated 20-May-2021)

MalaCards based summary : Waardenburg Syndrome, Type 2c, also known as waardenburg syndrome type 2c, is related to gallbladder melanoma and malignant choroid melanoma. An important gene associated with Waardenburg Syndrome, Type 2c is WS2C (Waardenburg Syndrome, Type IIC), and among its related pathways/superpathways are Neural Crest Differentiation and Endothelins. Affiliated tissues include eye, and related phenotypes are embryo and pigmentation

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 variation in the chromosome region 8p23.

Related Diseases for Waardenburg Syndrome, Type 2c

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 2c via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 gallbladder melanoma 10.0 SOX10 MITF
2 malignant choroid melanoma 9.9 SOX10 MITF
3 goldberg-shprintzen syndrome 9.9 EDNRB EDN3
4 malignant spindle cell melanoma 9.9 SOX10 MITF
5 large congenital melanocytic nevus 9.9 SOX10 MITF
6 melanoma in congenital melanocytic nevus 9.9 SOX10 MITF
7 intestinal obstruction 9.9 EDNRB EDN3
8 crest syndrome 9.9 SOX10 EDNRB
9 clear cell sarcoma 9.9 SOX10 MITF
10 mowat-wilson syndrome 9.9 SOX10 EDNRB
11 actinic keratosis 9.9 SOX10 MITF
12 neurilemmoma 9.8 SOX10 MITF
13 neurofibroma 9.8 SOX10 MITF
14 intracranial berry aneurysm 9.8 EDNRB EDN3
15 waardenburg syndrome, type 2b 9.7 SOX10 MITF EDN3
16 waardenburg syndrome, type 2d 9.7 SOX10 MITF EDNRB
17 waardenburg syndrome, type 2a 9.7 SOX10 MITF EDNRB
18 cochlear disease 9.7 SOX10 EDNRB EDN3
19 rare genetic deafness 9.7 SOX10 MITF EDNRB
20 megacolon 9.6 SOX10 EDNRB EDN3
21 intestinal pseudo-obstruction 9.6 SOX10 EDNRB EDN3
22 central hypoventilation syndrome, congenital 9.6 SOX10 EDNRB EDN3
23 melanoma, cutaneous malignant 1 9.6 SOX10 MITF
24 sensorineural hearing loss 9.4 SOX10 MITF EDN3
25 waardenburg syndrome type 4 9.4 SOX10 MITF EDNRB EDN3
26 waardenburg syndrome, type 4c 9.4 SOX10 MITF EDNRB EDN3
27 waardenburg syndrome, type 4b 9.4 SOX10 MITF EDNRB EDN3
28 tietz albinism-deafness syndrome 9.4 SOX10 MITF EDNRB EDN3
29 waardenburg syndrome, type 3 9.4 SOX10 MITF EDNRB EDN3
30 waardenburg syndrome, type 2e 9.4 SOX10 MITF EDNRB EDN3
31 waardenburg syndrome, type 1 9.4 SOX10 MITF EDNRB EDN3
32 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.4 SOX10 MITF EDNRB EDN3
33 waardenburg syndrome, type 4a 9.4 SOX10 MITF EDNRB EDN3
34 piebald trait 9.4 SOX10 MITF EDNRB EDN3
35 waardenburg's syndrome 9.4 SOX10 MITF EDNRB EDN3
36 hirschsprung disease 1 9.4 SOX10 MITF EDNRB EDN3

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



Diseases related to Waardenburg Syndrome, Type 2c

Symptoms & Phenotypes for Waardenburg Syndrome, Type 2c

Clinical features from OMIM®:

606662 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.35 EDN3 EDNRB FLVCR2 MITF SOX10
2 pigmentation MP:0001186 8.92 EDN3 EDNRB MITF SOX10

Drugs & Therapeutics for Waardenburg Syndrome, Type 2c

Search Clinical Trials , NIH Clinical Center for Waardenburg Syndrome, Type 2c

Genetic Tests for Waardenburg Syndrome, Type 2c

Genetic tests related to Waardenburg Syndrome, Type 2c:

# Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2c 29

Anatomical Context for Waardenburg Syndrome, Type 2c

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

40
Eye

Publications for Waardenburg Syndrome, Type 2c

Articles related to Waardenburg Syndrome, Type 2c:

# Title Authors PMID Year
1
Cytogenetic mapping of a novel locus for type II Waardenburg syndrome. 61 57
11810298 2002

Variations for Waardenburg Syndrome, Type 2c

Expression for Waardenburg Syndrome, Type 2c

Search GEO for disease gene expression data for Waardenburg Syndrome, Type 2c.

Pathways for Waardenburg Syndrome, Type 2c

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

# Super pathways Score Top Affiliating Genes
1 11.16 SOX10 MITF
2 10.68 EDNRB EDN3
3 10.24 SOX10 MITF

GO Terms for Waardenburg Syndrome, Type 2c

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.61 SOX10 MITF EDNRB
2 pigmentation GO:0043473 9.4 MITF EDNRB
3 peripheral nervous system development GO:0007422 9.37 SOX10 EDNRB
4 vasoconstriction GO:0042310 9.32 EDNRB EDN3
5 enteric nervous system development GO:0048484 9.26 SOX10 EDNRB
6 vein smooth muscle contraction GO:0014826 9.16 EDNRB EDN3
7 neural crest cell migration GO:0001755 9.13 SOX10 EDNRB EDN3
8 melanocyte differentiation GO:0030318 8.92 SOX10 MITF EDNRB EDN3

Sources for Waardenburg Syndrome, Type 2c

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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