MCID: WRD029
MIFTS: 22

Waardenburg Syndrome, Type 2b

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

Aliases & Classifications for Waardenburg Syndrome, Type 2b

MalaCards integrated aliases for Waardenburg Syndrome, Type 2b:

Name: Waardenburg Syndrome, Type 2b 54 13 69
Waardenburg Syndrome Type 2b 12 50 29
Waardenburg Syndrome Type Iib 12 24
Ws2b 12 50

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant not linked to pax3 or 2q35


Classifications:



Summaries for Waardenburg Syndrome, Type 2b

OMIM : 54
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 has symptoms including white forelock, sensorineural hearing impairment and premature graying of hair. An important gene associated with Waardenburg Syndrome, Type 2b is WS2B (Waardenburg Syndrome, Type 2B). Affiliated tissues include skin and eye.

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.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on waardenburg syndrome.

Related Diseases for Waardenburg Syndrome, Type 2b

Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 2a
Waardenburg Syndrome, Type 2c Waardenburg Syndrome, Type 2d
Waardenburg Syndrome, Type 4a 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:

id Related Disease Score Top Affiliating Genes
1 waardenburg's syndrome 11.0

Symptoms & Phenotypes for Waardenburg Syndrome, Type 2b

Symptoms via clinical synopsis from OMIM:

54

Ears:
sensorineural hearing loss

Hair:
white forelock
early graying

Eyes:
heterochromia irides
no dystopia canthorum

Facies:
no facial dysmorphism


Clinical features from OMIM:

600193

Human phenotypes related to Waardenburg Syndrome, Type 2b:

32
id Description HPO Frequency HPO Source Accession
1 white forelock 32 HP:0002211
2 sensorineural hearing impairment 32 HP:0000407
3 premature graying of hair 32 HP:0002216
4 heterochromia iridis 32 HP:0001100
5 abnormality of the face 32 HP:0000271

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:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2b 29
2 Waardenburg Syndrome Type Iib 24

Anatomical Context for Waardenburg Syndrome, Type 2b

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

39
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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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