EVR4
MCID: EXD004
MIFTS: 40

Exudative Vitreoretinopathy 4 (EVR4)

Categories: Blood diseases, Cardiovascular diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Exudative Vitreoretinopathy 4

MalaCards integrated aliases for Exudative Vitreoretinopathy 4:

Name: Exudative Vitreoretinopathy 4 57 11 28 12 5 43 14 71
Evr4 57 11 73
Vitreoretinopathy, Exudative, Type 4 38
Vitreoretinopathy, Exudative 4 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:



External Ids:

Disease Ontology 11 DOID:0111411
OMIM® 57 601813
OMIM Phenotypic Series 57 PS133780
MedGen 40 C1866176
UMLS 71 C1866176

Summaries for Exudative Vitreoretinopathy 4

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 08-Dec-2022)

MalaCards based summary: Exudative Vitreoretinopathy 4, also known as evr4, is related to exudative vitreoretinopathy 1 and exudative vitreoretinopathy 3. An important gene associated with Exudative Vitreoretinopathy 4 is LRP5 (LDL Receptor Related Protein 5), and among its related pathways/superpathways are Vitamin D receptor pathway and MicroRNAs in cardiomyocyte hypertrophy. Affiliated tissues include retina and bone, and related phenotypes are osteopenia and blindness

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 An exudative vitreoretinopathy that has material basis in homozygous, compound heterozygous, or heterozygous mutation in LRP5 on chromosome 11q13.2.

Related Diseases for Exudative Vitreoretinopathy 4

Graphical network of the top 20 diseases related to Exudative Vitreoretinopathy 4:



Diseases related to Exudative Vitreoretinopathy 4

Symptoms & Phenotypes for Exudative Vitreoretinopathy 4

Human phenotypes related to Exudative Vitreoretinopathy 4:

30 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 30 HP:0000938
2 blindness 30 HP:0000618
3 reduced visual acuity 30 HP:0007663
4 vitreous hemorrhage 30 HP:0007902
5 retinal exudate 30 HP:0001147
6 tractional retinal detachment 30 HP:0007917
7 subcapsular cataract 30 HP:0000523
8 horizontal pendular nystagmus 30 HP:0007811
9 exudative vitreoretinopathy 30 HP:0030490
10 peripheral retinal avascularization 30 HP:0007685
11 falciform retinal fold 30 HP:0001493
12 posterior vitreous detachment 30 HP:0001489

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
blindness
vitreous hemorrhage
tractional retinal detachment
horizontal pendular nystagmus
peripheral retinal avascularization
more
Skeletal:
decreased bone mineral density

Clinical features from OMIM®:

601813 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Exudative Vitreoretinopathy 4 according to GeneCards Suite gene sharing:

25 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.36 CYP3A4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.36 VIM
3 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.36 CYP3A4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.36 VIM
5 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.36 CYP3A4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.36 CYP3A4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.36 VIM
8 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.36 CYP3A4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.36 CYP3A4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.36 VIM
11 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.36 CYP3A4

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy 4:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 8.92 CYP3A4 LRP5 MTOR VIM

Drugs & Therapeutics for Exudative Vitreoretinopathy 4

Search Clinical Trials, NIH Clinical Center for Exudative Vitreoretinopathy 4

Cochrane evidence based reviews: exudative vitreoretinopathy 4

Genetic Tests for Exudative Vitreoretinopathy 4

Genetic tests related to Exudative Vitreoretinopathy 4:

# Genetic test Affiliating Genes
1 Exudative Vitreoretinopathy 4 28 LRP5

Anatomical Context for Exudative Vitreoretinopathy 4

Organs/tissues related to Exudative Vitreoretinopathy 4:

MalaCards : Retina, Bone

Publications for Exudative Vitreoretinopathy 4

Articles related to Exudative Vitreoretinopathy 4:

# Title Authors PMID Year
1
Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR). 62 57
14737064 2004
2
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. 57
20159112 2010
3
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. 57
15981244 2005
4
Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. 57
15346351 2004
5
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. 57
15024691 2004
6
Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity. 57
9831343 1998
7
Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity. 57
9056564 1997
8
Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity. 57
8832721 1996
9
Biosurfactant mediated bioelectrokinetic remediation of diesel contaminated environment. 62
33017706 2021
10
Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. 62
15665352 2005

Variations for Exudative Vitreoretinopathy 4

ClinVar genetic disease variations for Exudative Vitreoretinopathy 4:

5 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRP5 NM_002335.4(LRP5):c.2737dup (p.Cys913fs) DUP Pathogenic
287187 rs886043590 GRCh37: 11:68181389-68181390
GRCh38: 11:68413921-68413922
2 LRP5 NM_002335.4(LRP5):c.917G>A (p.Cys306Tyr) SNV Likely Pathogenic
915421 rs2098630548 GRCh37: 11:68133072-68133072
GRCh38: 11:68365604-68365604
3 LRP5 NM_002335.4(LRP5):c.4397del (p.Gly1466fs) DEL Likely Pathogenic
1687478 GRCh37: 11:68207288-68207288
GRCh38: 11:68439820-68439820
4 LRP5 NM_002335.4(LRP5):c.1270G>A (p.Asp424Asn) SNV Likely Pathogenic
982389 rs761131376 GRCh37: 11:68154038-68154038
GRCh38: 11:68386570-68386570
5 LRP5 NM_002335.4(LRP5):c.2555C>T (p.Thr852Met) SNV Likely Pathogenic
1179140 GRCh37: 11:68181208-68181208
GRCh38: 11:68413740-68413740
6 LRP5 NM_002335.4(LRP5):c.424_436del (p.Arg142fs) DEL Likely Pathogenic
1705512 GRCh37: 11:68115647-68115659
GRCh38: 11:68348179-68348191
7 LRP5 NM_002335.4(LRP5):c.2254C>T (p.Arg752Trp) SNV Likely Pathogenic
1184509 GRCh37: 11:68177544-68177544
GRCh38: 11:68410076-68410076
8 LRP5 NM_002335.4(LRP5):c.3914G>A (p.Cys1305Tyr) SNV Likely Pathogenic
1184510 GRCh37: 11:68201220-68201220
GRCh38: 11:68433752-68433752
9 LRP5 NM_002335.4(LRP5):c.1021G>A (p.Glu341Lys) SNV Uncertain Significance
623782 rs184945579 GRCh37: 11:68153789-68153789
GRCh38: 11:68386321-68386321
10 LRP5 NM_002335.4(LRP5):c.3361A>G (p.Asn1121Asp) SNV Uncertain Significance
225407 rs80358317 GRCh37: 11:68192694-68192694
GRCh38: 11:68425226-68425226
11 LRP5 NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) SNV Uncertain Significance
183255 rs61889560 GRCh37: 11:68191036-68191036
GRCh38: 11:68423568-68423568
12 LRP5 NM_002335.4(LRP5):c.1385G>A (p.Arg462Gln) SNV Uncertain Significance
1526384 GRCh37: 11:68154153-68154153
GRCh38: 11:68386685-68386685
13 LRP5 NM_002335.4(LRP5):c.4643G>T (p.Cys1548Phe) SNV Uncertain Significance
498449 rs147618989 GRCh37: 11:68216333-68216333
GRCh38: 11:68448865-68448865
14 LRP5 NM_002335.4(LRP5):c.1589T>C (p.Ile530Thr) SNV Uncertain Significance
1705431 GRCh37: 11:68170955-68170955
GRCh38: 11:68403487-68403487
15 LRP5 NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) SNV Uncertain Significance
520692 rs201320326 GRCh37: 11:68153967-68153967
GRCh38: 11:68386499-68386499
16 LRP5 NM_002335.4(LRP5):c.883+20C>T SNV Uncertain Significance
930443 rs761245318 GRCh37: 11:68131431-68131431
GRCh38: 11:68363963-68363963
17 LRP5 NM_002335.4(LRP5):c.2431A>G (p.Ile811Val) SNV Uncertain Significance
1491932 GRCh37: 11:68179016-68179016
GRCh38: 11:68411548-68411548
18 LRP5 NM_002335.4(LRP5):c.4488G>A (p.Pro1496=) SNV Uncertain Significance
635003 rs1565118560 GRCh37: 11:68207384-68207384
GRCh38: 11:68439916-68439916
19 LRP5 NM_002335.4(LRP5):c.2581A>T (p.Thr861Ser) SNV Uncertain Significance
930787 rs2098660901 GRCh37: 11:68181234-68181234
GRCh38: 11:68413766-68413766
20 LRP5 NM_002335.4(LRP5):c.4328C>A (p.Ser1443Tyr) SNV Uncertain Significance
931357 rs926919882 GRCh37: 11:68206130-68206130
GRCh38: 11:68438662-68438662
21 LRP5 NM_002335.4(LRP5):c.4349-8C>A SNV Not Provided
1339809 GRCh37: 11:68207237-68207237
GRCh38: 11:68439769-68439769
22 LRP5 NM_002335.4(LRP5):c.4583A>C (p.Tyr1528Ser) SNV Not Provided
1019709 rs1182722973 GRCh37: 11:68213998-68213998
GRCh38: 11:68446530-68446530

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

73 (show all 19)
# 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 rs1245625202
11 LRP5 p.Ala522Thr VAR_063964 rs80358309
12 LRP5 p.Thr535Met VAR_063966 rs80358310
13 LRP5 p.Gly550Arg VAR_063967 rs80358311
14 LRP5 p.Phe617Cys VAR_063969 rs80358314
15 LRP5 p.Thr798Ala VAR_063972 rs80358316
16 LRP5 p.Arg805Trp VAR_063973 rs765952535
17 LRP5 p.Cys1253Phe VAR_063978 rs768615287
18 LRP5 p.Ala422Thr VAR_071012 rs774342727
19 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

Cellular components related to Exudative Vitreoretinopathy 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phagocytic vesicle GO:0045335 8.92 VIM MTOR

Biological processes related to Exudative Vitreoretinopathy 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cholesterol metabolic process GO:0008203 9.26 LRP5 CYP3A4
2 positive regulation of translation GO:0045727 8.92 VIM MTOR

Sources for Exudative Vitreoretinopathy 4

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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