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

Aliases & Descriptions for Exudative Vitreoretinopathy 4:

Name: Exudative Vitreoretinopathy 4 54 13 69
Vitreoretinopathy, Exudative 4 66 29
Evr4 66

Characteristics:

HPO:

32
exudative vitreoretinopathy 4:
Inheritance autosomal recessive inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 601813
MedGen 40 C1866176
MeSH 42 D012164

Summaries for Exudative Vitreoretinopathy 4

OMIM : 54 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 osteopenia, blindness and reduced visual acuity. An important gene associated with Exudative Vitreoretinopathy 4 is LRP5 (LDL Receptor Related Protein 5). Affiliated tissues include retina.

UniProtKB/Swiss-Prot : 66 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

Symptoms & Phenotypes for Exudative Vitreoretinopathy 4

Symptoms by clinical synopsis from OMIM:

601813

Clinical features from OMIM:

601813

Human phenotypes related to Exudative Vitreoretinopathy 4:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 blindness 32 HP:0000618
3 reduced visual acuity 32 HP:0007663
4 retinal exudate 32 HP:0001147
5 tractional retinal detachment 32 HP:0007917
6 vitreous hemorrhage 32 HP:0007902
7 subcapsular cataract 32 HP:0000523
8 pigmentary retinal degeneration 32 HP:0001146
9 posterior vitreous detachment 32 HP:0001489
10 falciform retinal fold 32 HP:0001493
11 peripheral retinal avascularization 32 HP:0007685
12 exudative vitreoretinopathy 32 HP:0030490
13 horizontal pendular nystagmus 32 HP:0007811

Drugs & Therapeutics for Exudative Vitreoretinopathy 4

Search Clinical Trials , NIH Clinical Center for Exudative Vitreoretinopathy 4

Genetic Tests for Exudative Vitreoretinopathy 4

Genetic tests related to Exudative Vitreoretinopathy 4:

id Genetic test Affiliating Genes
1 Exudative Vitreoretinopathy 4 29

Anatomical Context for Exudative Vitreoretinopathy 4

MalaCards organs/tissues related to Exudative Vitreoretinopathy 4:

39
Retina

Publications for Exudative Vitreoretinopathy 4

Variations for Exudative Vitreoretinopathy 4

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

66 (show all 21)
id Symbol AA change Variation ID SNP ID
1 LRP5 p.Thr173Met VAR_018465 rs80358306
2 LRP5 p.Tyr1168His VAR_018466 rs80358318
3 LRP5 p.Cys1361Gly VAR_018467 rs80358320
4 LRP5 p.Arg570Gln VAR_021222 rs80358312
5 LRP5 p.Arg752Gly VAR_021223 rs121908674
6 LRP5 p.Glu1367Lys VAR_021224 rs28939709
7 LRP5 p.Leu145Phe VAR_063943 rs80358305
8 LRP5 p.Glu441Lys VAR_063956 rs376152274
9 LRP5 p.Arg444Cys VAR_063957 rs80358308
10 LRP5 p.Asp511Ala VAR_063962
11 LRP5 p.Ala522Thr VAR_063964 rs80358309
12 LRP5 p.Thr535Met VAR_063966 rs80358310
13 LRP5 p.Gly550Arg VAR_063967 rs80358311
14 LRP5 p.Gly610Arg VAR_063968 rs80358313
15 LRP5 p.Phe617Cys VAR_063969 rs80358314
16 LRP5 p.Thr798Ala VAR_063972 rs80358316
17 LRP5 p.Arg805Trp VAR_063973 rs765952535
18 LRP5 p.Asn1121Asp VAR_063977 rs80358317
19 LRP5 p.Cys1253Phe VAR_063978 rs768615287
20 LRP5 p.Ala422Thr VAR_071012
21 LRP5 p.Leu540Pro VAR_071013

Expression for Exudative Vitreoretinopathy 4

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

Pathways for Exudative Vitreoretinopathy 4

GO Terms for Exudative Vitreoretinopathy 4

Sources for Exudative Vitreoretinopathy 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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