MCID: WRD021
MIFTS: 27

Waardenburg Syndrome/ocular Albinism, Digenic malady

Categories: Genetic diseases (common), 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 49
Albinism Ocular with Sensorineural Deafness 67 24
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 65
Ws2-Oa 67

Characteristics:

HPO:

61
waardenburg syndrome/ocular albinism, digenic:
Inheritance: x-linked inheritance, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 103470
MedGen34 C1863198
MeSH36 D014849
UMLS65 C1845069, C1863198

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 albinism ocular with sensorineural deafness, is related to waardenburg syndrome/ocular albinism, digenic and idiopathic macular telangiectasia type 1, and has symptoms including hypoplasia of the fovea, reduced visual acuity and giant melanosomes in melanocytes. 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 phenotype pigmentation.

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

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:00011869.1MITF, 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 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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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