EVR4
MCID: EXD004
MIFTS: 24

Exudative Vitreoretinopathy 4 (EVR4) malady

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

Aliases & Classifications for Exudative Vitreoretinopathy 4

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Aliases & Descriptions for Exudative Vitreoretinopathy 4:

Name: Exudative Vitreoretinopathy 4 52 12 68
Vitreoretinopathy, Exudative 4 70 27
 
Evr4 70

Characteristics:

HPO:

64
exudative vitreoretinopathy 4:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 601813
MedGen37 C1866176
MeSH39 D012164

Summaries for Exudative Vitreoretinopathy 4

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OMIM:52 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 exudative vitreoretinopathy 1 and lrp5-related familial exudative vitreoretinopathy, autosomal recessive, and has symptoms including subcapsular cataract, blindness and osteopenia. An important gene associated with Exudative Vitreoretinopathy 4 is LRP5 (LDL Receptor Related Protein 5). Affiliated tissues include retina.

UniProtKB/Swiss-Prot:70 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 & Phenotypes for Exudative Vitreoretinopathy 4

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Symptoms by clinical synopsis from OMIM:

601813

Clinical features from OMIM:

601813

Human phenotypes related to Exudative Vitreoretinopathy 4:

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 subcapsular cataract64 HP:0000523
2 blindness64 HP:0000618
3 osteopenia64 HP:0000938
4 pigmentary retinal degeneration64 HP:0001146
5 retinal exudate64 HP:0001147
6 posterior vitreous detachment64 HP:0001489
7 falciform retinal fold64 HP:0001493
8 reduced visual acuity64 HP:0007663
9 peripheral retinal avascularization64 HP:0007685
10 horizontal pendular nystagmus64 HP:0007811
11 vitreous hemorrhage64 HP:0007902
12 tractional retinal detachment64 HP:0007917
13 exudative vitreoretinopathy64 HP:0030490

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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Genetic tests related to Exudative Vitreoretinopathy 4:

id Genetic test Affiliating Genes
1 Exudative Vitreoretinopathy 427

Anatomical Context for Exudative Vitreoretinopathy 4

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MalaCards organs/tissues related to Exudative Vitreoretinopathy 4:

36
Retina

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:

70 (show all 21)
id Symbol AA change Variation ID SNP ID
1LRP5p.Thr173MetVAR_018465rs80358306
2LRP5p.Tyr1168HisVAR_018466rs80358318
3LRP5p.Cys1361GlyVAR_018467rs80358320
4LRP5p.Arg570GlnVAR_021222rs80358312
5LRP5p.Arg752GlyVAR_021223rs121908674
6LRP5p.Glu1367LysVAR_021224rs28939709
7LRP5p.Leu145PheVAR_063943rs80358305
8LRP5p.Glu441LysVAR_063956rs376152274
9LRP5p.Arg444CysVAR_063957rs80358308
10LRP5p.Asp511AlaVAR_063962
11LRP5p.Ala522ThrVAR_063964rs80358309
12LRP5p.Thr535MetVAR_063966rs80358310
13LRP5p.Gly550ArgVAR_063967rs80358311
14LRP5p.Gly610ArgVAR_063968rs80358313
15LRP5p.Phe617CysVAR_063969rs80358314
16LRP5p.Thr798AlaVAR_063972rs80358316
17LRP5p.Arg805TrpVAR_063973rs765952535
18LRP5p.Asn1121AspVAR_063977rs80358317
19LRP5p.Cys1253PheVAR_063978rs768615287
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet