MCID: WRD029
MIFTS: 23

Waardenburg Syndrome, Type 2b

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 57 13 73
Waardenburg Syndrome Type 2b 12 76 53 29
Ws2b 57 12 53
Waardenburg Syndrome, Type Iib 57
Waardenburg Syndrome Type Iib 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant not linked to pax3 or 2q35


Classifications:



External Ids:

OMIM 57 600193
Disease Ontology 12 DOID:0110947
MedGen 42 C1838447
UMLS 73 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)

MalaCards based summary : Waardenburg Syndrome, Type 2b, also known as waardenburg syndrome type 2b, is related to waardenburg's syndrome and perrault syndrome 1. 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 : 76 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 11.2
2 perrault syndrome 1 11.1

Symptoms & Phenotypes for Waardenburg Syndrome, Type 2b

Symptoms via clinical synopsis from OMIM:

57
Hair:
white forelock
early graying

Facies:
no facial dysmorphism

Ears:
sensorineural hearing loss

Eyes:
heterochromia irides
no dystopia canthorum


Clinical features from OMIM:

600193

Human phenotypes related to Waardenburg Syndrome, Type 2b:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 heterochromia iridis 32 HP:0001100
3 premature graying of hair 32 HP:0002216
4 abnormality of the face 32 HP:0000271
5 white forelock 32 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 29

Anatomical Context for Waardenburg Syndrome, Type 2b

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

41
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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