MCID: WRD021
MIFTS: 28

Waardenburg Syndrome/ocular Albinism, Digenic malady

Eye diseases, Metabolic diseases, Ear diseases categories

Summaries for Waardenburg Syndrome/ocular Albinism, Digenic

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46OMIM, 32MalaCards
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MalaCards: Waardenburg Syndrome/ocular Albinism, Digenic, also known as ocular albinism with congenital sensorineural deafness, is related to oculocutaneous albinism and ocular albinism. An important gene associated with Waardenburg Syndrome/ocular Albinism, Digenic is MITF (microphthalmia-associated transcription factor), and among its related pathways are Neural Crest Differentiation and Signaling events mediated by Stem cell factor receptor (c-Kit). 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:46 103470

Aliases & Classifications for Waardenburg Syndrome/ocular Albinism, Digenic

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46OMIM, 48Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
ocular albinism with congenital sensorineural deafness:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

waardenburg syndrome/ocular albinism, digenic 46
ocular albinism with congenital sensorineural deafness 48
waardenburg syndrome type 2 with ocular albinism 48


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OMIM46 103470

Related Diseases for Waardenburg Syndrome/ocular Albinism, Digenic

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17GeneCards, 18GeneDecks
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Diseases related to Waardenburg Syndrome/ocular Albinism, Digenic via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1oculocutaneous albinism10.0TYR
2ocular albinism10.0TYR
3albinism10.0TYR
4neurofibroma10.0MITF
5sarcoma10.0TYR
6pigmentation disease10.0TYR, MITF
7intraocular melanoma10.0TYR, MITF
8neurilemmoma10.0MITF, TYR
9angiomyolipoma10.0MITF, TYR
10microphthalmia10.0TYR, MITF
11skin disease10.0TYR, MITF
12piebaldism10.0SNAI2, MITF
13vitiligo10.0MITF, TYR
14kidney cancer10.0TYR, MITF
15waardenburg's syndrome10.0MITF, TYR, SNAI2
16melanoma10.0MITF, SNAI2, TYR

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



Diseases related to waardenburg syndrome/ocular albinism, digenic

Clinical Features for Waardenburg Syndrome/ocular Albinism, Digenic

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46OMIM
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Clinical features from OMIM:

103470

Clinical synopsis from OMIM:

103470

Drugs & Therapeutics for Waardenburg Syndrome/ocular Albinism, Digenic

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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32MalaCards
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MalaCards organs/tissues related to Waardenburg Syndrome/ocular Albinism, Digenic:

32
Eye

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

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36MGI
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MGI Mouse Phenotypes related to Waardenburg Syndrome/ocular Albinism, Digenic:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.6MITF, SNAI2, TYR
2MP:00053918.6TYR, MITF, SNAI2
3MP:00053798.5SNAI2, TYR, MITF
4MP:00053898.5TYR, SNAI2, MITF
5MP:00053908.4MITF, TYR, SNAI2
6MP:00107718.2MITF, SNAI2, TYR

Publications for Waardenburg Syndrome/ocular Albinism, Digenic

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Genetic 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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1BioGPS, 15Gene 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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37NCBI BioSystems Database, 29KEGG
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Pathways related to Waardenburg Syndrome/ocular Albinism, Digenic according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3MITF, SNAI2
2
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9.3MITF, SNAI2
39.3MITF, SNAI2
4
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9.0MITF, TYR

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

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44Novoseek
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Compounds related to Waardenburg Syndrome/ocular Albinism, Digenic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1kojic acid449.1MITF, TYR
2dopachrome449.0MITF, TYR
3paraffin449.0MITF, TYR
4hmba448.9TYR, MITF
5tyrosine448.2MITF, TYR, SNAI2

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

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16Gene Ontology
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Molecular functions related to Waardenburg Syndrome/ocular Albinism, Digenic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:0036829.3MITF, SNAI2
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.0MITF, SNAI2

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

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Sources for Waardenburg Syndrome/ocular Albinism, Digenic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet