MCID: EXD004
MIFTS: 25

Exudative Vitreoretinopathy 4 malady

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

Aliases & Classifications for Exudative Vitreoretinopathy 4

About this section

Aliases & Descriptions for Exudative Vitreoretinopathy 4:

Name: Exudative Vitreoretinopathy 4 50 12 66
Vitreoretinopathy, Exudative 4 68 25
 
Evr4 68

Characteristics:

HPO:

62
exudative vitreoretinopathy 4:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 601813
MedGen35 C1866176
MeSH37 D012164

Summaries for Exudative Vitreoretinopathy 4

About this section
OMIM:50 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 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:68 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

About this section

Symptoms for Exudative Vitreoretinopathy 4

About this section

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

Drugs & Therapeutics for Exudative Vitreoretinopathy 4

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Exudative Vitreoretinopathy 4

Genetic Tests for Exudative Vitreoretinopathy 4

About this section

Genetic tests related to Exudative Vitreoretinopathy 4:

id Genetic test Affiliating Genes
1 Exudative Vitreoretinopathy 425

Anatomical Context for Exudative Vitreoretinopathy 4

About this section

MalaCards organs/tissues related to Exudative Vitreoretinopathy 4:

34
Retina

Animal Models for Exudative Vitreoretinopathy 4 or affiliated genes

About this section

Publications for Exudative Vitreoretinopathy 4

About this section

Variations for Exudative Vitreoretinopathy 4

About this section

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

68 (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

About this section
Search GEO for disease gene expression data for Exudative Vitreoretinopathy 4.

Pathways for genes affiliated with Exudative Vitreoretinopathy 4

About this section

GO Terms for genes affiliated with Exudative Vitreoretinopathy 4

About this section

Sources for Exudative Vitreoretinopathy 4

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet