WS2B
MCID: WRD029
MIFTS: 34

Waardenburg Syndrome, Type 2b (WS2B)

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 2b

MalaCards integrated aliases for Waardenburg Syndrome, Type 2b:

Name: Waardenburg Syndrome, Type 2b 57 12 71
Waardenburg Syndrome Type 2b 11 75 28 14
Ws2b 57 11
Waardenburg Syndrome, Type Iib 57
Waardenburg Syndrome Type Iib 11

Characteristics:


Inheritance:

Autosomal dominant not linked to PAX3 or 2q35 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0110947
OMIM® 57 600193
OMIM Phenotypic Series 57 PS193500
MedGen 40 C1838447
UMLS 71 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 24-Oct-2022)

MalaCards based summary: Waardenburg Syndrome, Type 2b, also known as waardenburg syndrome type 2b, is related to epilepsy, familial temporal lobe, 6 and cochlear disease. An important gene associated with Waardenburg Syndrome, Type 2b is WS2B (Waardenburg Syndrome, Type 2B), and among its related pathways/superpathways are Prostaglandin synthesis and regulation and Neural crest differentiation. Affiliated tissues include eye and skin, and related phenotypes are sensorineural hearing impairment and premature graying of hair

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 variation in the chromosome region 1p21-p13.3.

Wikipedia: 75 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 2f

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 epilepsy, familial temporal lobe, 6 10.0 EDNRB EDN3
2 cochlear disease 10.0 EDNRB EDN3
3 central hypoventilation syndrome, congenital, 1 10.0 EDNRB EDN3
4 goldberg-shprintzen syndrome 9.9 EDNRB EDN3
5 branchiooculofacial syndrome 9.9 SOX10 PAX3
6 spindle cell sarcoma 9.9 SOX10 PAX3
7 myxofibrosarcoma 9.9 SOX10 PAX3
8 intestinal obstruction 9.9 EDNRB EDN3
9 spinal cord melanoma 9.8 SOX10 MITF
10 cervix melanoma 9.8 SOX10 MITF
11 gallbladder melanoma 9.8 SOX10 MITF
12 albinism, ocular, with late-onset sensorineural deafness 9.8 PAX3 MITF
13 malignant spindle cell melanoma 9.8 SOX10 MITF
14 nodular malignant melanoma 9.8 SOX10 MITF
15 perivascular tumor 9.8 SOX10 MITF
16 cutaneous fibrous histiocytoma 9.8 SOX10 MITF
17 fibrous histiocytoma 9.8 SOX10 MITF
18 amelanotic melanoma 9.8 SOX10 MITF
19 mucosal melanoma 9.8 SOX10 MITF
20 large congenital melanocytic nevus 9.8 SOX10 MITF
21 clear cell sarcoma 9.8 SOX10 MITF
22 melanoma in congenital melanocytic nevus 9.7 SOX10 MITF
23 intracranial berry aneurysm 9.7 EDNRB EDN3
24 mowat-wilson syndrome 9.7 SOX10 EDNRB EDN3
25 alveolar soft part sarcoma 9.7 PAX3 MITF
26 intestinal pseudo-obstruction 9.7 SOX10 EDNRB EDN3
27 congenital central hypoventilation syndrome 9.7 SOX10 EDNRB EDN3
28 neurilemmoma 9.7 SOX10 MITF
29 neurofibroma 9.7 SOX10 MITF
30 pendred syndrome 9.6 PAX3 MITF
31 coloboma of macula 9.6 SOX10 PAX3 MITF
32 malignant peripheral nerve sheath tumor 9.5 SOX10 MITF
33 megacolon 9.5 SOX10 PAX3 EDNRB EDN3
34 microphthalmia 9.5 SOX10 PAX3 MITF
35 rare genetic deafness 9.3 SOX10 PAX3 MITF EDNRB
36 melanoma 9.2 SOX10 PAX3 MITF EDNRB
37 waardenburg syndrome, type 4c 9.1 SOX10 PAX3 MITF EDNRB EDN3
38 tietz albinism-deafness syndrome 9.1 SOX10 PAX3 MITF EDNRB EDN3
39 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.1 SOX10 PAX3 MITF EDNRB EDN3
40 waardenburg syndrome, type 1 9.1 SOX10 PAX3 MITF EDNRB EDN3
41 waardenburg syndrome, type 4a 9.1 SOX10 PAX3 MITF EDNRB EDN3
42 piebald trait 9.1 SOX10 PAX3 MITF EDNRB EDN3
43 waardenburg's syndrome 9.1 SOX10 PAX3 MITF EDNRB EDN3
44 hirschsprung disease 1 9.1 SOX10 PAX3 MITF EDNRB EDN3
45 sensorineural hearing loss 9.0 SOX10 PAX3 MITF EDNRB EDN3
46 waardenburg syndrome, type 2e 8.8 SOX10 PAX3 MITF EDNRB EDN3 C2orf74
47 waardenburg syndrome, type 2d 8.8 SOX10 PAX3 MITF EDNRB EDN3 C2orf74
48 waardenburg syndrome, type 2c 8.8 SOX10 PAX3 MITF EDNRB EDN3 C2orf74
49 waardenburg syndrome, type 2a 8.8 SOX10 PAX3 MITF EDNRB EDN3 C2orf74
50 waardenburg syndrome, type 3 8.8 SOX10 PAX3 MITF EDNRB EDN3 C2orf74

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 30 HP:0000407
2 premature graying of hair 30 HP:0002216
3 heterochromia iridis 30 HP:0001100
4 abnormality of the face 30 HP:0000271
5 white forelock 30 HP:0002211

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.77 EDN3 EDNRB MITF PAX3 SOX10
2 embryo MP:0005380 9.65 EDN3 EDNRB MITF PAX3 SOX10
3 limbs/digits/tail MP:0005371 9.62 EDNRB MITF PAX3 SOX10
4 digestive/alimentary MP:0005381 9.55 C2orf74 EDN3 EDNRB PAX3 SOX10
5 behavior/neurological MP:0005386 9.43 C2orf74 EDN3 EDNRB MITF PAX3 SOX10
6 integument MP:0010771 9.02 EDN3 EDNRB MITF PAX3 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 28

Anatomical Context for Waardenburg Syndrome, Type 2b

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

MalaCards : Eye, Skin

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
Show member pathways
11.21 MITF EDNRB
2 11.14 SOX10 PAX3 MITF
3 11 PAX3 MITF
4 10.66 EDNRB EDN3
5 10.41 SOX10 PAX3 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 peripheral nervous system development GO:0007422 9.71 SOX10 EDNRB
2 vasoconstriction GO:0042310 9.67 EDNRB EDN3
3 blood circulation GO:0008015 9.63 EDNRB EDN3
4 enteric nervous system development GO:0048484 9.62 SOX10 EDNRB
5 vein smooth muscle contraction GO:0014826 9.46 EDNRB EDN3
6 pigmentation GO:0043473 9.43 MITF EDNRB
7 neural crest cell migration GO:0001755 9.43 SOX10 EDNRB EDN3
8 regulation of biological quality GO:0065008 9.26 EDNRB EDN3
9 melanocyte differentiation GO:0030318 9.23 SOX10 MITF EDNRB EDN3

Sources for Waardenburg Syndrome, Type 2b

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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