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EVR1
MCID: EXD008
MIFTS: 72
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Exudative Vitreoretinopathy 1 (EVR1)
Categories:
Blood diseases, Cardiovascular diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Exudative Vitreoretinopathy 1:
Characteristics:Orphanet epidemiological data:59
retinopathy of prematurity
Age of onset: Infancy,Neonatal; Age of death: normal life expectancy; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
clinical variability onset in infancy or early childhood slowly progressive disorder some patients may be asymptomatic absence of premature birth, low birthweight, and exposure to oxygen genetic heterogeneity, see evr2 , evr3 , and evr4 HPO:32
exudative vitreoretinopathy 1:
Onset and clinical course infantile onset slow progression Inheritance autosomal dominant inheritance GeneReviews:24
Penetrance
When using fluorescein angiography to determine clinical status, penetrance is reported to be 100% because all affected individuals have a sector of avascular peripheral retina [ober et al 1980]...
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Eye diseases Cardiovascular diseases Neuronal diseases Blood diseases
ICD10:
33
34
External Ids:
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OMIM
:
57
Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010).
In 31 Chinese pedigrees clinically diagnosed with FEVR, Rao et al. (2017) analyzed 6 FEVR-associated genes and identified mutations in 12 of the probands, including 5 (16.1%) in LRP5, 3 (9.7%) in NDP, 2 (6.5%) in FZD4, and 1 (3.2%) in TSPAN12. In addition, a mutation in the KIF11 gene (148760) was identified in a patient who also exhibited microcephaly (MCLMR; 152950). The authors noted that their detection rate did not exceed 50%, suggesting that other FEVR-associated genes remained to be discovered.
(133780)
MalaCards based summary : Exudative Vitreoretinopathy 1, also known as retinopathy of prematurity, is related to exudative vitreoretinopathy and skin hemangioma, and has symptoms including hyperoxia An important gene associated with Exudative Vitreoretinopathy 1 is FZD4 (Frizzled Class Receptor 4), and among its related pathways/superpathways are Focal Adhesion and PI3K-Akt signaling pathway. The drugs Ribavirin and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina, and related phenotypes are blindness and retinal arteriolar tortuosity UniProtKB/Swiss-Prot : 75 Vitreoretinopathy, exudative 1: A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history. Wikipedia : 76 Retinopathy of prematurity (ROP), also called retrolental fibroplasia (RLF) and Terry syndrome, is a... more...
GeneReviews:
NBK1147
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:133780Human phenotypes related to Exudative Vitreoretinopathy 1:59 32 (show all 19)
UMLS symptoms related to Exudative Vitreoretinopathy 1:hyperoxia GenomeRNAi Phenotypes related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Exudative Vitreoretinopathy 1:46 (show all 13)
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Drugs for Exudative Vitreoretinopathy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: retinopathy of prematurity |
MalaCards organs/tissues related to Exudative Vitreoretinopathy 1:41
Eye,
Endothelial,
Retina,
Lung,
Skin,
Bone,
Breast
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Articles related to Exudative Vitreoretinopathy 1:(show top 50) (show all 1477)
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Genes related to Exudative Vitreoretinopathy 1 (4 elite genes):(show all 28) - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Exudative Vitreoretinopathy 1:75 (show all 23)
ClinVar genetic disease variations for Exudative Vitreoretinopathy 1:6 (show all 35)
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Search
GEO
for disease gene expression data for Exudative Vitreoretinopathy 1.
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Pathways related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:(show all 24)
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Cellular components related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:
Biological processes related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:(show all 27)
Molecular functions related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:
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