WS2-OA
MCID: WRD021
MIFTS: 27

Waardenburg Syndrome/ocular Albinism, Digenic (WS2-OA) malady

Categories: Genetic diseases, Eye diseases, Metabolic diseases, Rare diseases, Ear diseases

Aliases & Classifications for Waardenburg Syndrome/ocular Albinism, Digenic

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Aliases & Descriptions for Waardenburg Syndrome/ocular Albinism, Digenic:

Name: Waardenburg Syndrome/ocular Albinism, Digenic 52
Waardenburg Syndrome/albinism, Digenic 52 24 12
Ws2-Oa 24 70
Waardenburg Syndrome Type 2, with Ocular Albinism, Autosomal Recessive 24
Waardenburg Syndrome 2, with Ocular Albinism, Autosomal Recessive 70
Albinism, Ocular, with Late-Onset Sensorineural Deafness 68
 
Ocular Albinism with Congenital Sensorineural Deafness 54
Waardenburg Syndrome Type 2 with Ocular Albinism 54
Albinism, Ocular, with Sensorineural Deafness 68
Albinism Ocular with Sensorineural Deafness 70
Ocular Albinism and Sensorineural Deafness 12

Characteristics:

Orphanet epidemiological data:

54
ocular albinism with congenital sensorineural deafness:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
waardenburg syndrome/ocular albinism, digenic:
Inheritance: autosomal dominant inheritance, x-linked inheritance

Classifications:



External Ids:

OMIM52 103470
Orphanet54 ORPHA352740
ICD10 via Orphanet31 E70.3
MedGen37 C1863198
MeSH39 D014849

Summaries for Waardenburg Syndrome/ocular Albinism, Digenic

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UniProtKB/Swiss-Prot:70 Waardenburg syndrome 2, with ocular albinism, autosomal recessive: A disorder characterized by the association of features typical of Waardenburg syndrome type 2 with ocular albinism. Patients manifest reduced visual acuity, albinotic fundus, deafness, hypomelanosis.

MalaCards based summary: Waardenburg Syndrome/ocular Albinism, Digenic, also known as waardenburg syndrome/albinism, digenic, is related to ocular albinism with sensorineural deafness and ocular albinism, and has symptoms including sensorineural hearing impairment, strabismus and visual impairment. An important gene associated with Waardenburg Syndrome/ocular Albinism, Digenic is TYR (Tyrosinase), and among its related pathways is Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways. Affiliated tissues include skin and eye, and related mouse phenotypes are hearing/vestibular/ear and pigmentation.

Description from OMIM:52 103470

Related Diseases for Waardenburg Syndrome/ocular Albinism, Digenic

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Graphical network of the top 20 diseases related to Waardenburg Syndrome/ocular Albinism, Digenic:



Diseases related to waardenburg syndrome/ocular albinism, digenic

Symptoms & Phenotypes for Waardenburg Syndrome/ocular Albinism, Digenic

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Symptoms by clinical synopsis from OMIM:

103470

Clinical features from OMIM:

103470

Human phenotypes related to Waardenburg Syndrome/ocular Albinism, Digenic:

 64 (show all 14)
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment64 HP:0000407
2 strabismus64 HP:0000486
3 visual impairment64 HP:0000505
4 hypermetropia64 HP:0000540
5 photophobia64 HP:0000613
6 nystagmus64 HP:0000639
7 multiple lentigines64 HP:0001003
8 hypopigmentation of the skin64 HP:0001010
9 optic nerve dysplasia64 HP:0001093
10 ocular albinism64 HP:0001107
11 vestibular hypofunction64 HP:0001756
12 giant melanosomes in melanocytes64 HP:0005592
13 reduced visual acuity64 HP:0007663
14 hypoplasia of the fovea64 HP:0007750

MGI Mouse Phenotypes related to Waardenburg Syndrome/ocular Albinism, Digenic according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.8MITF, TYR
2MP:00011869.1MITF, TYR

Drugs & Therapeutics for Waardenburg Syndrome/ocular Albinism, Digenic

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Waardenburg Syndrome/ocular Albinism, Digenic

Genetic Tests for Waardenburg Syndrome/ocular Albinism, Digenic

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Genetic tests related to Waardenburg Syndrome/ocular Albinism, Digenic:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome/albinism, Digenic24 TYR

Anatomical Context for Waardenburg Syndrome/ocular Albinism, Digenic

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MalaCards organs/tissues related to Waardenburg Syndrome/ocular Albinism, Digenic:

36
Skin, Eye

Publications for Waardenburg Syndrome/ocular Albinism, Digenic

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Variations for Waardenburg Syndrome/ocular Albinism, Digenic

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Expression for genes affiliated with Waardenburg Syndrome/ocular Albinism, Digenic

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Search GEO for disease gene expression data for Waardenburg Syndrome/ocular Albinism, Digenic.

Pathways for genes affiliated with Waardenburg Syndrome/ocular Albinism, Digenic

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Pathways related to Waardenburg Syndrome/ocular Albinism, Digenic according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1MITF, TYR

GO Terms for genes affiliated with Waardenburg Syndrome/ocular Albinism, Digenic

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Biological processes related to Waardenburg Syndrome/ocular Albinism, Digenic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1pigmentationGO:00434739.1MITF, TYR

Sources for Waardenburg Syndrome/ocular Albinism, Digenic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet