MCID: WRD021
MIFTS: 25

Waardenburg Syndrome/ocular Albinism, Digenic 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 50
Waardenburg Syndrome/albinism, Digenic 50 12
Waardenburg Syndrome 2, with Ocular Albinism, Autosomal Recessive 68
Ocular Albinism with Congenital Sensorineural Deafness 52
 
Waardenburg Syndrome Type 2 with Ocular Albinism 52
Albinism Ocular with Sensorineural Deafness 68
Ocular Albinism and Sensorineural Deafness 12
Ws2-Oa 68

Characteristics:

Orphanet epidemiological data:

52
ocular albinism with congenital sensorineural deafness:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
waardenburg syndrome/ocular albinism, digenic:
Inheritance: autosomal dominant inheritance, x-linked inheritance


Classifications:



External Ids:

OMIM50 103470
Orphanet52 ORPHA352740
ICD10 via Orphanet29 E70.3
MedGen35 C1863198
MeSH37 D014849

Summaries for Waardenburg Syndrome/ocular Albinism, Digenic

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UniProtKB/Swiss-Prot:68 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 Basal cell carcinoma. Affiliated tissues include skin and eye, and related mouse phenotype pigmentation.

Description from OMIM:50 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 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 sensorineural hearing impairment HP:0000407
2 strabismus HP:0000486
3 visual impairment HP:0000505
4 hypermetropia HP:0000540
5 photophobia HP:0000613
6 nystagmus HP:0000639
7 multiple lentigines HP:0001003
8 hypopigmentation of the skin HP:0001010
9 optic nerve dysplasia HP:0001093
10 ocular albinism HP:0001107
11 vestibular hypofunction HP:0001756
12 giant melanosomes in melanocytes HP:0005592
13 reduced visual acuity HP:0007663
14 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:

34
Skin, Eye

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:

39
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet