WS2B
MCID: WRD029
MIFTS: 23

Waardenburg Syndrome, Type 2b (WS2B)

Categories: Ear diseases, Eye diseases, Fetal 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 58 13 74
Waardenburg Syndrome Type 2b 12 77 54 30
Ws2b 58 12 54
Waardenburg Syndrome, Type Iib 58
Waardenburg Syndrome Type Iib 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant not linked to pax3 or 2q35


HPO:

33
waardenburg syndrome, type 2b:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110947
OMIM 58 600193
MedGen 43 C1838447
UMLS 74 C1838447

Summaries for Waardenburg Syndrome, Type 2b

OMIM : 58 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)

MalaCards based summary : Waardenburg Syndrome, Type 2b, also known as waardenburg syndrome type 2b, is related to waardenburg's syndrome and cone-rod dystrophy and hearing loss 2. An important gene associated with Waardenburg Syndrome, Type 2b is WS2B (Waardenburg Syndrome, Type 2B). Affiliated tissues include skin and eye, and related phenotypes are sensorineural hearing impairment and heterochromia iridis

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 : 77 Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness,... 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:

# Related Disease Score Top Affiliating Genes
1 waardenburg's syndrome 11.3
2 cone-rod dystrophy and hearing loss 2 11.1

Symptoms & Phenotypes for Waardenburg Syndrome, Type 2b

Human phenotypes related to Waardenburg Syndrome, Type 2b:

33
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407
2 heterochromia iridis 33 HP:0001100
3 premature graying of hair 33 HP:0002216
4 abnormality of the face 33 HP:0000271
5 white forelock 33 HP:0002211

Symptoms via clinical synopsis from OMIM:

58
Hair:
white forelock
early graying

Facies:
no facial dysmorphism

Ears:
sensorineural hearing loss

Eyes:
heterochromia irides
no dystopia canthorum

Clinical features from OMIM:

600193

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 30

Anatomical Context for Waardenburg Syndrome, Type 2b

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

42
Skin, Eye

Publications for Waardenburg Syndrome, Type 2b

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

GO Terms for Waardenburg Syndrome, Type 2b

Sources for Waardenburg Syndrome, Type 2b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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