MCID: WRD021
MIFTS: 25

Waardenburg Syndrome/ocular Albinism, Digenic malady

Genetic diseases (common), Ear diseases categories

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 49
Waardenburg Syndrome/albinism, Digenic 49 11
Waardenburg Syndrome 2, with Ocular Albinism, Autosomal Recessive 67
 
Albinism, Ocular, with Late-Onset Sensorineural Deafness 65
Albinism Ocular with Sensorineural Deafness 67
Ws2-Oa 67


Classifications:



External Ids:

OMIM49 103470
MedGen34 C1863198
MeSH36 D014849

Summaries for Waardenburg Syndrome/ocular Albinism, Digenic

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UniProtKB/Swiss-Prot:67 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 waardenburg syndrome/ocular albinism, digenic and idiopathic macular telangiectasia type 1, and has symptoms including autosomal dominant inheritance, sensorineural hearing impairment and strabismus. An important gene associated with Waardenburg Syndrome/ocular Albinism, Digenic is TYR (Tyrosinase), and among its related pathways is Basal cell carcinoma. Affiliated tissues include skin, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Description from OMIM:49 103470

Related Diseases for Waardenburg Syndrome/ocular Albinism, Digenic

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



Diseases related to waardenburg syndrome/ocular albinism, digenic

Symptoms for Waardenburg Syndrome/ocular Albinism, Digenic

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Symptoms by clinical synopsis from OMIM:

103470

Clinical features from OMIM:

103470

HPO human phenotypes related to Waardenburg Syndrome/ocular Albinism, Digenic:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 sensorineural hearing impairment HP:0000407
3 strabismus HP:0000486
4 visual impairment HP:0000505
5 hypermetropia HP:0000540
6 photophobia HP:0000613
7 nystagmus HP:0000639
8 multiple lentigines HP:0001003
9 hypopigmentation of the skin HP:0001010
10 optic nerve dysplasia HP:0001093
11 ocular albinism HP:0001107
12 x-linked inheritance HP:0001417
13 vestibular hypofunction HP:0001756
14 giant melanosomes in melanocytes HP:0005592
15 reduced visual acuity HP:0007663
16 hypoplasia of the fovea HP:0007750

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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Anatomical Context for Waardenburg Syndrome/ocular Albinism, Digenic

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

33
Skin

Animal Models for Waardenburg Syndrome/ocular Albinism, Digenic or affiliated genes

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MGI Mouse Phenotypes related to Waardenburg Syndrome/ocular Albinism, Digenic:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2MITF, TYR
2MP:00053719.1MITF, TYR

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 pathways (with members indented)ScoreTop 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet