MCID: FML042
MIFTS: 17

Familial Exudative Vitreoretinopathy, Autosomal Dominant malady

Genetic category

Summaries for Familial Exudative Vitreoretinopathy, Autosomal Dominant

Sources:
19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 pigmentation and vision/eye.

GeneReviews summary for fevr

Aliases & Classifications for Familial Exudative Vitreoretinopathy, Autosomal Dominant

Sources:
19GeneReviews, 20GeneTests
See all sources

Classifications:

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


Aliases & Descriptions:

familial exudative vitreoretinopathy, autosomal dominant 19 20
adfevr 19


Related Diseases for Familial Exudative Vitreoretinopathy, Autosomal Dominant

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Familial Exudative Vitreoretinopathy, Autosomal Dominant:



Diseases related to familial exudative vitreoretinopathy, autosomal dominant

Clinical Features for Familial Exudative Vitreoretinopathy, Autosomal Dominant

Drugs & Therapeutics for Familial Exudative Vitreoretinopathy, Autosomal Dominant

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Familial Exudative Vitreoretinopathy, Autosomal Dominant

Drug clinical trials:

Search ClinicalTrials for Familial Exudative Vitreoretinopathy, Autosomal Dominant

Search NIH Clinical Center for Familial Exudative Vitreoretinopathy, Autosomal Dominant

Search CenterWatch for Familial Exudative Vitreoretinopathy, Autosomal Dominant

Genetic Tests for Familial Exudative Vitreoretinopathy, Autosomal Dominant

Sources:
20GeneTests
See all sources

Genetic tests related to Familial Exudative Vitreoretinopathy, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Familial Exudative Vitreoretinopathy, Autosomal Dominant20 TSPAN12

Anatomical Context for Familial Exudative Vitreoretinopathy, Autosomal Dominant

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0LRP5, FZD4
2MP:00053918.2TSPAN12, LRP5, FZD4

Publications for Familial Exudative Vitreoretinopathy, Autosomal Dominant

Sources:
51PubMed
See all sources

Articles related to Familial Exudative Vitreoretinopathy, Autosomal Dominant:

idTitleAuthorsYear
1
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. (20159112)
2010
2
Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. (15665352)
2005
3
Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy. (14560311)
2004
4
Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R). (15370539)
2004
5
A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13. (11179025)
2001
6
Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree. (10729291)
2000
7
Familial Exudative Vitreoretinopathy, Autosomal Dominant (20301326)
1993
8
The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11. (1598965)
1992
9
The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. (1415220)
1992

Genetic Variations for Familial Exudative Vitreoretinopathy, Autosomal Dominant

Expression for genes affiliated with Familial Exudative Vitreoretinopathy, Autosomal Dominant

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Familial Exudative Vitreoretinopathy, Autosomal Dominant

Search GEO for disease gene expression data for Familial Exudative Vitreoretinopathy, Autosomal Dominant.

Pathways for genes affiliated with Familial Exudative Vitreoretinopathy, Autosomal Dominant

Sources:
30KEGG, 53R&D Systems, 38NCBI BioSystems Database, 52QIAGEN
See all sources

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.0LRP5, FZD4
29.0LRP5, FZD4
3
Hide members
9.0FZD4, LRP5
49.0LRP5, FZD4
59.0LRP5, FZD4
69.0LRP5, FZD4

Compounds for genes affiliated with Familial Exudative Vitreoretinopathy, Autosomal Dominant

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

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1Wnt receptor signaling pathwayGO:0160559.0LRP5, FZD4
2retinal blood vessel morphogenesisGO:0613048.9LRP5, FZD4
3canonical Wnt receptor signaling pathwayGO:0600708.7LRP5, FZD4

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

idNameGO IDScoreTop Affiliating Genes
1Wnt-protein bindingGO:0171479.0LRP5, FZD4
2Wnt-activated receptor activityGO:0428138.2TSPAN12, LRP5, FZD4

Products for genes affiliated with Familial Exudative Vitreoretinopathy, Autosomal Dominant

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Exudative Vitreoretinopathy, Autosomal Dominant

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet