MCID: WRD021
MIFTS: 25

Waardenburg Syndrome/ocular Albinism, Digenic malady

Eye diseases, Rare diseases, Ear diseases categories

Summaries for Waardenburg Syndrome/ocular Albinism, Digenic

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48OMIM, 34MalaCards
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MalaCards: Waardenburg Syndrome/ocular Albinism, Digenic, also known as ocular albinism with congenital sensorineural deafness, is related to ocular albinism and melanoma, cutaneous malignant 8. An important gene associated with Waardenburg Syndrome/ocular Albinism, Digenic is MITF (microphthalmia-associated transcription factor), and among its related pathways is Basal cell carcinoma. The compounds kojic acid and dopachrome have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are pigmentation and vision/eye.

Description from OMIM:48 103470

Aliases & Classifications for Waardenburg Syndrome/ocular Albinism, Digenic

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48OMIM, 50Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases, Ear diseases


Characteristics (Orphanet epidemiological data):

50
ocular albinism with congenital sensorineural deafness:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

waardenburg syndrome/ocular albinism, digenic 48
ocular albinism with congenital sensorineural deafness 50
waardenburg syndrome type 2 with ocular albinism 50


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OMIM48 103470

Related Diseases for Waardenburg Syndrome/ocular Albinism, Digenic

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18GeneCards, 19GeneDecks
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Diseases related to Waardenburg Syndrome/ocular Albinism, Digenic via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1ocular albinism10.1TYR
2melanoma, cutaneous malignant 810.0MITF, TYR
3pigmentation disease10.0MITF, TYR
4waardenburg's syndrome10.0MITF, TYR
5angiomyolipoma10.0TYR, MITF
6vitiligo10.0MITF, TYR
7intraocular melanoma10.0MITF, TYR
8neurilemmoma10.0TYR, MITF
9microphthalmia10.0MITF, TYR
10skin disease10.0MITF, TYR
11kidney cancer10.0TYR, MITF
12melanoma10.0MITF, TYR
13retinoblastoma10.0TYR, MITF
14burkitt's lymphoma9.9TYR, MITF

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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48OMIM
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Symptoms by clinical synopsis from OMIM:

103470

Clinical features from OMIM:

103470

Drugs & Therapeutics for Waardenburg Syndrome/ocular Albinism, Digenic

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Waardenburg Syndrome/ocular Albinism, Digenic

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Anatomical Context for Waardenburg Syndrome/ocular Albinism, Digenic

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34MalaCards
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MalaCards organs/tissues related to Waardenburg Syndrome/ocular Albinism, Digenic:

34
Eye

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

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38MGI
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MGI Mouse Phenotypes related to Waardenburg Syndrome/ocular Albinism, Digenic:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1MITF, TYR
2MP:00053919.1MITF, TYR
3MP:00053719.0MITF, TYR
4MP:00030128.8MITF, 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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Waardenburg Syndrome/ocular Albinism, Digenic

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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51PathCards, 31KEGG
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Pathways related to Waardenburg Syndrome/ocular Albinism, Digenic according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1MITF, TYR

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

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46Novoseek, 25HMDB
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Compounds related to Waardenburg Syndrome/ocular Albinism, Digenic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1kojic acid469.3MITF, TYR
2dopachrome469.2MITF, TYR
3hmba469.2MITF, TYR
4paraffin469.1TYR, MITF
5oxygen46 2510.1MITF, TYR
6arginine469.0MITF, TYR
7glutamate468.8MITF, TYR

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

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

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Waardenburg Syndrome/ocular Albinism, Digenic

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet