MCID: WRD029
MIFTS: 23

Waardenburg Syndrome, Type 2b

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

Aliases & Classifications for Waardenburg Syndrome, Type 2b

MalaCards integrated aliases for Waardenburg Syndrome, Type 2b:

Name: Waardenburg Syndrome, Type 2b 53 13 69
Waardenburg Syndrome Type 2b 12 72 49 28
Ws2b 53 12 49
Waardenburg Syndrome, Type Iib 53
Waardenburg Syndrome Type Iib 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant not linked to pax3 or 2q35


Classifications:



External Ids:

OMIM 53 600193
Disease Ontology 12 DOID:0110947
MedGen 39 C1838447
UMLS 69 C1838447

Summaries for Waardenburg Syndrome, Type 2b

OMIM : 53 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 sensorineural hearing impairment, heterochromia iridis 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.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Waardenburg syndrome.

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 : 72 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 11.1

Symptoms & Phenotypes for Waardenburg Syndrome, Type 2b

Symptoms via clinical synopsis from OMIM:

53
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:

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

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

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

38
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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