MCID: EXD004
MIFTS: 22

Exudative Vitreoretinopathy 4 malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Exudative Vitreoretinopathy 4

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Aliases & Descriptions for Exudative Vitreoretinopathy 4:

Name: Exudative Vitreoretinopathy 4 49 11 65
Vitreoretinopathy, Exudative 4 67 24
 
Evr4 67

Characteristics:

HPO:

61
exudative vitreoretinopathy 4:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 601813
MedGen34 C1866176
MeSH36 D012164
UMLS65 C1866176

Summaries for Exudative Vitreoretinopathy 4

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OMIM:49 Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the... (601813) more...

MalaCards based summary: Exudative Vitreoretinopathy 4, also known as vitreoretinopathy, exudative 4, is related to lrp5-related familial exudative vitreoretinopathy, autosomal recessive and exudative vitreoretinopathy, and has symptoms including exudative vitreoretinopathy, tractional retinal detachment and vitreous hemorrhage. An important gene associated with Exudative Vitreoretinopathy 4 is LRP5 (LDL Receptor Related Protein 5). Affiliated tissues include retina and eye.

UniProtKB/Swiss-Prot:67 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.

Related Diseases for Exudative Vitreoretinopathy 4

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Symptoms for Exudative Vitreoretinopathy 4

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Symptoms by clinical synopsis from OMIM:

601813

Clinical features from OMIM:

601813

HPO human phenotypes related to Exudative Vitreoretinopathy 4:

(show all 13)
id Description Frequency HPO Source Accession
1 exudative vitreoretinopathy HP:0030490
2 tractional retinal detachment HP:0007917
3 vitreous hemorrhage HP:0007902
4 horizontal pendular nystagmus HP:0007811
5 peripheral retinal avascularization HP:0007685
6 reduced visual acuity HP:0007663
7 falciform retinal fold HP:0001493
8 posterior vitreous detachment HP:0001489
9 retinal exudate HP:0001147
10 pigmentary retinal degeneration HP:0001146
11 osteopenia HP:0000938
12 blindness HP:0000618
13 subcapsular cataract HP:0000523

Drugs & Therapeutics for Exudative Vitreoretinopathy 4

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Exudative Vitreoretinopathy 4

Genetic Tests for Exudative Vitreoretinopathy 4

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Anatomical Context for Exudative Vitreoretinopathy 4

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MalaCards organs/tissues related to Exudative Vitreoretinopathy 4:

33
Retina, Eye

Animal Models for Exudative Vitreoretinopathy 4 or affiliated genes

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Publications for Exudative Vitreoretinopathy 4

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Variations for Exudative Vitreoretinopathy 4

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UniProtKB/Swiss-Prot genetic disease variations for Exudative Vitreoretinopathy 4:

67 (show all 21)
id Symbol AA change Variation ID SNP ID
1LRP5p.Thr173MetVAR_018465rs80358306
2LRP5p.Tyr1168HisVAR_018466
3LRP5p.Cys1361GlyVAR_018467
4LRP5p.Arg570GlnVAR_021222
5LRP5p.Arg752GlyVAR_021223
6LRP5p.Glu1367LysVAR_021224rs28939709
7LRP5p.Leu145PheVAR_063943
8LRP5p.Glu441LysVAR_063956
9LRP5p.Arg444CysVAR_063957
10LRP5p.Asp511AlaVAR_063962
11LRP5p.Ala522ThrVAR_063964
12LRP5p.Thr535MetVAR_063966
13LRP5p.Gly550ArgVAR_063967
14LRP5p.Gly610ArgVAR_063968
15LRP5p.Phe617CysVAR_063969
16LRP5p.Thr798AlaVAR_063972rs80358316
17LRP5p.Arg805TrpVAR_063973
18LRP5p.Asn1121AspVAR_063977rs80358317
19LRP5p.Cys1253PheVAR_063978
20LRP5p.Ala422ThrVAR_071012
21LRP5p.Leu540ProVAR_071013

Expression for genes affiliated with Exudative Vitreoretinopathy 4

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Search GEO for disease gene expression data for Exudative Vitreoretinopathy 4.

Pathways for genes affiliated with Exudative Vitreoretinopathy 4

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GO Terms for genes affiliated with Exudative Vitreoretinopathy 4

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Sources for Exudative Vitreoretinopathy 4

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet