WS2B
MCID: WRD029
MIFTS: 28

Waardenburg Syndrome, Type 2b (WS2B)

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

Aliases & Classifications for Waardenburg Syndrome, Type 2b

MalaCards integrated aliases for Waardenburg Syndrome, Type 2b:

Name: Waardenburg Syndrome, Type 2b 57 13 70
Waardenburg Syndrome Type 2b 12 73 29 15
Ws2b 57 12
Waardenburg Syndrome, Type Iib 57
Waardenburg Syndrome Type Iib 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant not linked to pax3 or 2q35


HPO:

31
waardenburg syndrome, type 2b:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110947
OMIM® 57 600193
OMIM Phenotypic Series 57 PS193500
MedGen 41 C1838447
UMLS 70 C1838447

Summaries for Waardenburg Syndrome, Type 2b

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 (Hughes et al., 1994). WS type 2B (WS2B) maps to chromosome 1p. 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). (600193) (Updated 20-May-2021)

MalaCards based summary : Waardenburg Syndrome, Type 2b, also known as waardenburg syndrome type 2b, is related to osteopetrosis, autosomal dominant 2 and gallbladder melanoma. An important gene associated with Waardenburg Syndrome, Type 2b is WS2B (Waardenburg Syndrome, Type 2B), and among its related pathways/superpathways are Neural Crest Differentiation and Melanocyte Development and Pigmentation. Affiliated tissues include eye, and related phenotypes are sensorineural hearing impairment and abnormality of the face

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 1p21-p13.3.

Wikipedia : 73 Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of... more...

Related Diseases for Waardenburg Syndrome, Type 2b

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal dominant 2 10.0 PALMD PALM
2 gallbladder melanoma 9.8 SOX10 MITF
3 malignant choroid melanoma 9.8 SOX10 MITF
4 waardenburg syndrome, type 2d 9.8 SOX10 MITF
5 malignant spindle cell melanoma 9.8 SOX10 MITF
6 waardenburg syndrome, type 2a 9.8 SOX10 MITF
7 large congenital melanocytic nevus 9.8 SOX10 MITF
8 melanoma in congenital melanocytic nevus 9.8 SOX10 MITF
9 cochlear disease 9.8 SOX10 EDN3
10 clear cell sarcoma 9.8 SOX10 MITF
11 actinic keratosis 9.8 SOX10 MITF
12 neurilemmoma 9.7 SOX10 MITF
13 neurofibroma 9.7 SOX10 MITF
14 megacolon 9.7 SOX10 EDN3
15 intestinal pseudo-obstruction 9.6 SOX10 EDN3
16 central hypoventilation syndrome, congenital 9.6 SOX10 EDN3
17 melanoma, cutaneous malignant 1 9.6 SOX10 MITF
18 waardenburg syndrome, type 2c 9.5 SOX10 MITF EDN3
19 waardenburg syndrome type 4 9.5 SOX10 MITF EDN3
20 waardenburg syndrome, type 4c 9.5 SOX10 MITF EDN3
21 waardenburg syndrome, type 4b 9.5 SOX10 MITF EDN3
22 tietz albinism-deafness syndrome 9.5 SOX10 MITF EDN3
23 waardenburg syndrome, type 3 9.5 SOX10 MITF EDN3
24 waardenburg syndrome, type 2e 9.5 SOX10 MITF EDN3
25 waardenburg syndrome, type 1 9.5 SOX10 MITF EDN3
26 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.5 SOX10 MITF EDN3
27 waardenburg syndrome, type 4a 9.5 SOX10 MITF EDN3
28 piebald trait 9.5 SOX10 MITF EDN3
29 waardenburg's syndrome 9.5 SOX10 MITF EDN3
30 malignant peripheral nerve sheath tumor 9.5 SOX10 MITF
31 hirschsprung disease 1 9.5 SOX10 MITF EDN3
32 sensorineural hearing loss 9.3 SOX10 MITF EDN3

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



Diseases related to Waardenburg Syndrome, Type 2b

Symptoms & Phenotypes for Waardenburg Syndrome, Type 2b

Human phenotypes related to Waardenburg Syndrome, Type 2b:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 abnormality of the face 31 HP:0000271
3 premature graying of hair 31 HP:0002216
4 heterochromia iridis 31 HP:0001100
5 white forelock 31 HP:0002211

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hair:
white forelock
early graying

Facies:
no facial dysmorphism

Ears:
sensorineural hearing loss

Eyes:
heterochromia irides
no dystopia canthorum

Clinical features from OMIM®:

600193 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.8 EDN3 MITF SOX10

Drugs & Therapeutics for Waardenburg Syndrome, Type 2b

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

Genetic Tests for Waardenburg Syndrome, Type 2b

Genetic tests related to Waardenburg Syndrome, Type 2b:

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

Anatomical Context for Waardenburg Syndrome, Type 2b

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

40
Eye

Publications for Waardenburg Syndrome, Type 2b

Articles related to Waardenburg Syndrome, Type 2b:

# Title Authors PMID Year
1
A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. 57
7951321 1994

Variations for Waardenburg Syndrome, Type 2b

Expression for Waardenburg Syndrome, Type 2b

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

Pathways for Waardenburg Syndrome, Type 2b

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

# Super pathways Score Top Affiliating Genes
1 10.96 SOX10 MITF
2 10.24 SOX10 MITF

GO Terms for Waardenburg Syndrome, Type 2b

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

# Name GO ID Score Top Affiliating Genes
1 regulation of cell shape GO:0008360 9.16 PALMD PALM
2 neural crest cell migration GO:0001755 8.96 SOX10 EDN3
3 melanocyte differentiation GO:0030318 8.8 SOX10 MITF EDN3

Sources for Waardenburg Syndrome, Type 2b

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
Content
Loading form....