Exudative vitreoretinopathy 1; EVR1
GtoPdb Disease Summaries
This section gives an overview of the disease, and where available shows the following:
- Synonyms: Shows known synonyms for the disease.
- Description: Gives a basic description/definition of the disease.
- Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
- Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
- Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.
More information can be found in the help pages.
✖| Disease ID: | 350 | |
| Name: | Exudative vitreoretinopathy 1; EVR1 | |
| Associated with: | 1 target | |
| Synonyms |
| Exudative vitreoretinopathy | Familial exudative vitreoretinopathy |
| Database Links |
|
Disease Ontology:
DOID:0050535 OMIM: 133780 Orphanet: ORPHA891 |
Targets
GtoPdb Disease Summaries - Targets
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖| FZD4 | |
| Comments: | Mutant FZD4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy (FEVR). Up to now, 58 different FEVR pathogenic mutations have been reported for FZD4, out of which 31 are missense changes scattered throughout the FZD4 protein structure (Stenson et al., 2003). All the mutations (except R417Q) have been shown to cause symptoms associated with FEVR disease in the heterozygous state (Kondo et al., 2007). However, patients have been diagnosed as having more severe forms of FEVR when both alleles of FZD4 are mutated (Kondo et al., 2003). |
| References: | 1-6,9-13 |
| Mutations: | FZD4 is associated with 6 mutation. Click here for details  |
Ligands
GtoPdb Disease Summaries - Ligands
Click ligand name to view ligand summary page
- Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
- Immuno: Immuno icon indicates the ligand is immuno-relevant
Click the arrow in the final column to expand comments
- Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
- Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
- Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.
More information can be found in the help pages.
✖No ligand related data available for Exudative vitreoretinopathy 1; EVR1
References
1. Canny CL, Oliver GL. (1976) Fluorescein angiographic findings in familial exudative vitreoretinopathy. Arch Ophthalmol, 94 (7): 1114-20. [PMID:947162]
2. Criswick VG, Schepens CL. (1969) Familial exudative vitreoretinopathy. Am J Ophthalmol, 68 (4): 578-94. [PMID:5394449]
3. Gitter KA, Rothschild H, Waltman DD, Scott B, Azar P. (1978) Dominantly inherited peripheral retinal neovascularization. Arch Ophthalmol, 96 (9): 1601-5. [PMID:687201]
4. Gow J, Oliver GL. (1971) Familial exudative vitreoretinopathy. An expanded view. Arch Ophthalmol, 86 (2): 150-5. [PMID:5571414]
5. Kondo H, Hayashi H, Oshima K, Tahira T, Hayashi K. (2003) Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. Br J Ophthalmol, 87 (10): 1291-5. [PMID:14507768]
6. Kondo H, Qin M, Tahira T, Uchio E, Hayashi K. (2007) Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene. Ophthalmic Genet, 28 (4): 220-3. [PMID:18161623]
7. MacDonald ML, Goldberg YP, Macfarlane J, Samuels ME, Trese MT, Shastry BS. (2005) Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. Clin Genet, 67 (4): 363-6. [PMID:15733276]
8. Qin M, Hayashi H, Oshima K, Tahira T, Hayashi K, Kondo H. (2005) Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. Hum Mutat, 26 (2): 104-12. [PMID:15981244]
9. Ranchod TM, Ho LY, Drenser KA, Capone Jr A, Trese MT. (2011) Clinical presentation of familial exudative vitreoretinopathy. Ophthalmology, 118 (10): 2070-5. [PMID:21868098]
10. Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dubé MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, Siebert LF, Hoskin-Mott A, Trese MT, Pimstone SN, Shastry BS, Moon RT, Hayden MR, Goldberg YP, Samuels ME. (2002) Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet, 32: 326-330. [PMID:12172548]
11. Slusher MM, Hutton WE. (1979) Familial exudative vitreoretinopathy. Am J Ophthalmol, 87 (2): 152-6. [PMID:434067]
12. Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN. (2003) Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat, 21 (6): 577-81. [PMID:12754702]
13. Yoshida S, Arita R, Yoshida A, Tada H, Emori A, Noda Y, Nakao S, Fujisawa K, Ishibashi T. (2004) Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. Am J Ophthalmol, 138 (4): 670-1. [PMID:15488808]
