EVR4
MCID: EXD004
MIFTS: 26

Exudative Vitreoretinopathy 4 (EVR4)

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

Aliases & Classifications for Exudative Vitreoretinopathy 4

MalaCards integrated aliases for Exudative Vitreoretinopathy 4:

Name: Exudative Vitreoretinopathy 4 58 30 13 6 74
Evr4 58 76
Vitreoretinopathy, Exudative, Type 4 41
Vitreoretinopathy, Exudative 4 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

33
exudative vitreoretinopathy 4:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Exudative Vitreoretinopathy 4

OMIM : 58 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)

MalaCards based summary : Exudative Vitreoretinopathy 4, also known as evr4, is related to exudative vitreoretinopathy and exudative vitreoretinopathy 3. An important gene associated with Exudative Vitreoretinopathy 4 is LRP5 (LDL Receptor Related Protein 5). Affiliated tissues include retina, bone and eye, and related phenotypes are osteopenia and blindness

UniProtKB/Swiss-Prot : 76 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

Diseases in the Exudative Vitreoretinopathy family:

Exudative Vitreoretinopathy 1 Exudative Vitreoretinopathy 4
Exudative Vitreoretinopathy 3 Exudative Vitreoretinopathy 5
Exudative Vitreoretinopathy 6 Exudative Vitreoretinopathy 7

Diseases related to Exudative Vitreoretinopathy 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 10.2
2 exudative vitreoretinopathy 3 10.1
3 exudative vitreoretinopathy 5 10.1

Symptoms & Phenotypes for Exudative Vitreoretinopathy 4

Human phenotypes related to Exudative Vitreoretinopathy 4:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 osteopenia 33 HP:0000938
2 blindness 33 HP:0000618
3 reduced visual acuity 33 HP:0007663
4 exudative vitreoretinopathy 33 HP:0030490
5 subcapsular cataract 33 HP:0000523
6 retinal exudate 33 HP:0001147
7 tractional retinal detachment 33 HP:0007917
8 horizontal pendular nystagmus 33 HP:0007811
9 vitreous hemorrhage 33 HP:0007902
10 peripheral retinal avascularization 33 HP:0007685
11 falciform retinal fold 33 HP:0001493
12 posterior vitreous detachment 33 HP:0001489

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
blindness
tractional retinal detachment
horizontal pendular nystagmus
vitreous hemorrhage
decreased visual acuity
more
Skeletal:
decreased bone mineral density

Clinical features from OMIM:

601813

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:

# Genetic test Affiliating Genes
1 Exudative Vitreoretinopathy 4 30 LRP5

Anatomical Context for Exudative Vitreoretinopathy 4

MalaCards organs/tissues related to Exudative Vitreoretinopathy 4:

42
Retina, Bone, Eye

Publications for Exudative Vitreoretinopathy 4

Articles related to Exudative Vitreoretinopathy 4:

# Title Authors Year
1
Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. ( 15665352 )
2005
2
Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR). ( 14737064 )
2004

Variations for Exudative Vitreoretinopathy 4

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

76 (show all 20)
# 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 rs124562520
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.Cys1253Phe VAR_063978 rs768615287
19 LRP5 p.Ala422Thr VAR_071012 rs774342727
20 LRP5 p.Leu540Pro VAR_071013

ClinVar genetic disease variations for Exudative Vitreoretinopathy 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LRP5 NM_002335.2(LRP5): c.3107G> A (p.Arg1036Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61889560 GRCh37 Chromosome 11, 68191036: 68191036
2 LRP5 NM_002335.2(LRP5): c.3107G> A (p.Arg1036Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61889560 GRCh38 Chromosome 11, 68423568: 68423568
3 LRP5 NM_002335.3(LRP5): c.3361A> G (p.Asn1121Asp) single nucleotide variant Uncertain significance rs80358317 GRCh38 Chromosome 11, 68425226: 68425226
4 LRP5 NM_002335.3(LRP5): c.3361A> G (p.Asn1121Asp) single nucleotide variant Uncertain significance rs80358317 GRCh37 Chromosome 11, 68192694: 68192694
5 LRP5 NM_002335.2(LRP5): c.2737_2738insT (p.Cys913Leufs) duplication Pathogenic rs886043590 GRCh37 Chromosome 11, 68181390: 68181390
6 LRP5 NM_002335.2(LRP5): c.2737_2738insT (p.Cys913Leufs) duplication Pathogenic rs886043590 GRCh38 Chromosome 11, 68413922: 68413922
7 LRP5 NM_002335.3(LRP5): c.1199C> T (p.Ala400Val) single nucleotide variant Uncertain significance rs201320326 GRCh38 Chromosome 11, 68386499: 68386499
8 LRP5 NM_002335.3(LRP5): c.1199C> T (p.Ala400Val) single nucleotide variant Uncertain significance rs201320326 GRCh37 Chromosome 11, 68153967: 68153967

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

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