MCID: FML042
MIFTS: 20

Familial Exudative Vitreoretinopathy, Autosomal Dominant malady

Genetic diseases (common) category

Summaries for Familial Exudative Vitreoretinopathy, Autosomal Dominant

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20GeneReviews, 34MalaCards
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MalaCards: Familial Exudative Vitreoretinopathy, Autosomal Dominant, also known as adfevr, is related to exudative vitreoretinopathy and fzd4-related familial exudative vitreoretinopathy, autosomal dominant. An important gene associated with Familial Exudative Vitreoretinopathy, Autosomal Dominant is TSPAN12 (tetraspanin 12), and among its related pathways are Wnt Signaling Pathway and WNT Signaling. Related mouse phenotypes are hearing/vestibular/ear and pigmentation.

GeneReviews summary for fevr

Aliases & Classifications for Familial Exudative Vitreoretinopathy, Autosomal Dominant

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20GeneReviews, 21GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

familial exudative vitreoretinopathy, autosomal dominant 20 21
adfevr 20


Related Diseases for Familial Exudative Vitreoretinopathy, Autosomal Dominant

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Familial Exudative Vitreoretinopathy, Autosomal Dominant:



Diseases related to familial exudative vitreoretinopathy, autosomal dominant

Symptoms for Familial Exudative Vitreoretinopathy, Autosomal Dominant

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Drugs & Therapeutics for Familial Exudative Vitreoretinopathy, Autosomal Dominant

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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 Familial Exudative Vitreoretinopathy, Autosomal Dominant

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21GeneTests
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Genetic tests related to Familial Exudative Vitreoretinopathy, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Familial Exudative Vitreoretinopathy, Autosomal Dominant21 TSPAN12

Anatomical Context for Familial Exudative Vitreoretinopathy, Autosomal Dominant

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Animal Models for Familial Exudative Vitreoretinopathy, Autosomal Dominant or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Familial Exudative Vitreoretinopathy, Autosomal Dominant:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0FZD4, TSPAN12
2MP:00011868.8FZD4, LRP5
3MP:00053918.5FZD4, TSPAN12, LRP5
4MP:00053858.4LRP5, TSPAN12, FZD4

Publications for Familial Exudative Vitreoretinopathy, Autosomal Dominant

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53PubMed
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Articles related to Familial Exudative Vitreoretinopathy, Autosomal Dominant:

idTitleAuthorsYear
1
Familial Exudative Vitreoretinopathy, Autosomal Dominant (20301326)
1993

Variations for Familial Exudative Vitreoretinopathy, Autosomal Dominant

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Expression for genes affiliated with Familial Exudative Vitreoretinopathy, Autosomal Dominant

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Exudative Vitreoretinopathy, Autosomal Dominant

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Pathways for genes affiliated with Familial Exudative Vitreoretinopathy, Autosomal Dominant

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51PathCards, 39NCBI BioSystems Database, 55R&D Systems, 31KEGG, 54QIAGEN
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Pathways related to Familial Exudative Vitreoretinopathy, Autosomal Dominant according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Wnt Signaling Pathway NetPath39
9.1FZD4, LRP5
29.1FZD4, LRP5
3
Show member pathways
DNA damage response (only ATM dependent)39
Wnt Signaling Pathway and Pluripotency39
9.1LRP5, FZD4
49.1FZD4, LRP5
59.1FZD4, LRP5
69.1FZD4, LRP5

Compounds for genes affiliated with Familial Exudative Vitreoretinopathy, Autosomal Dominant

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GO Terms for genes affiliated with Familial Exudative Vitreoretinopathy, Autosomal Dominant

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17Gene Ontology
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Biological processes related to Familial Exudative Vitreoretinopathy, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix-cell signalingGO:0354269.2FZD4, LRP5
2retinal blood vessel morphogenesisGO:0613049.2FZD4, LRP5
3canonical Wnt signaling pathwayGO:0600709.1FZD4, LRP5
4positive regulation of transcription, DNA-templatedGO:0458939.1FZD4, LRP5
5positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.0LRP5, FZD4
6Wnt signaling pathwayGO:0160558.8FZD4, LRP5

Molecular functions related to Familial Exudative Vitreoretinopathy, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Wnt-protein bindingGO:0171479.1FZD4, LRP5
2Wnt-activated receptor activityGO:0428138.2FZD4, TSPAN12, LRP5

Products for genes affiliated with Familial Exudative Vitreoretinopathy, Autosomal Dominant

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Sources for Familial Exudative Vitreoretinopathy, Autosomal Dominant

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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