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EVR4
MCID: EXD004
MIFTS: 42
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Exudative Vitreoretinopathy 4 (EVR4)
Categories:
Blood diseases, Cardiovascular diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Exudative Vitreoretinopathy 4:
Characteristics:OMIM®:57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive autosomal dominant
Miscellaneous:
clinical variability onset in infancy or early childhood some patients may be asymptomatic absence of premature birth, low birthweight, and exposure to oxygen allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, ) genetic heterogeneity, see evr1 HPO:31
exudative vitreoretinopathy 4:
Inheritance autosomal dominant inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Cardiovascular diseases Neuronal diseases Eye diseases Blood diseases |
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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).
For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 (133780). (601813) (Updated 05-Apr-2021)
MalaCards based summary : Exudative Vitreoretinopathy 4, also known as evr4, is related to vitreoretinopathy and exudative vitreoretinopathy 2, x-linked. An important gene associated with Exudative Vitreoretinopathy 4 is LRP5 (LDL Receptor Related Protein 5), and among its related pathways/superpathways are Signaling by Wnt and Pathways in cancer. Affiliated tissues include retina and bone, and related phenotypes are osteopenia and blindness Disease Ontology : 12 An exudative vitreoretinopathy that has material basis in homozygous, compound heterozygous, or heterozygous mutation in LRP5 on chromosome 11q13.2. UniProtKB/Swiss-Prot : 72 Vitreoretinopathy, exudative 4: 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. |
Human phenotypes related to Exudative Vitreoretinopathy 4:31 (show all 12)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:601813 (Updated 05-Apr-2021) |
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MalaCards organs/tissues related to Exudative Vitreoretinopathy 4:40
Retina,
Bone
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Articles related to Exudative Vitreoretinopathy 4:
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Genes related to Exudative Vitreoretinopathy 4 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Exudative Vitreoretinopathy 4:6 (show all 12)
UniProtKB/Swiss-Prot genetic disease variations for Exudative Vitreoretinopathy 4:72 (show all 20)
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Search
GEO
for disease gene expression data for Exudative Vitreoretinopathy 4.
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Pathways related to Exudative Vitreoretinopathy 4 according to GeneCards Suite gene sharing:(show all 18)
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Biological processes related to Exudative Vitreoretinopathy 4 according to GeneCards Suite gene sharing:(show all 15)
Molecular functions related to Exudative Vitreoretinopathy 4 according to GeneCards Suite gene sharing:
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