EVR5
MCID: EXD006
MIFTS: 22

Exudative Vitreoretinopathy 5 (EVR5)

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

Aliases & Classifications for Exudative Vitreoretinopathy 5

MalaCards integrated aliases for Exudative Vitreoretinopathy 5:

Name: Exudative Vitreoretinopathy 5 58 30 13 6 74
Evr5 58 76
Vitreoretinopathy, Exudative, Type 5 41
Vitreoretinopathy, Exudative 5 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment
severely affected individuals may carry 2 mutated alleles


HPO:

33
exudative vitreoretinopathy 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613310
MeSH 45 D012164
MedGen 43 C2750079
UMLS 74 C2750079

Summaries for Exudative Vitreoretinopathy 5

OMIM : 58 Familial exudative vitreoretinopathy is an inherited blinding disorder caused by defects in the development of retinal vasculature. There is extensive variation in disease severity among patients, even between members of the same family. Severely affected individuals often are registered as blind during infancy and can present with a phenotype resembling retinal dysplasia. Conversely, mildly affected individuals frequently have few or no visual problems and may have just a small area of avascularity in their peripheral retina, detectable only by fluorescein angiography (summary by Poulter et al., 2012). For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy (FEVR), see EVR1 (133780). (613310)

MalaCards based summary : Exudative Vitreoretinopathy 5, is also known as evr5. An important gene associated with Exudative Vitreoretinopathy 5 is TSPAN12 (Tetraspanin 12). Affiliated tissues include retina and eye, and related phenotypes are reduced visual acuity and tractional retinal detachment

UniProtKB/Swiss-Prot : 76 Vitreoretinopathy, exudative 5: 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 5

Symptoms & Phenotypes for Exudative Vitreoretinopathy 5

Human phenotypes related to Exudative Vitreoretinopathy 5:

33
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 33 occasional (7.5%) HP:0007663
2 tractional retinal detachment 33 occasional (7.5%) HP:0007917
3 shallow anterior chamber 33 occasional (7.5%) HP:0000594
4 exudative vitreoretinopathy 33 HP:0030490
5 retinal exudate 33 HP:0001147

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
retinal exudates
decreased visual acuity (in some patients)
avascularity of peripheral retina
tractional retinal detachment (in some patients)
shallow anterior chamber (in some patients)
more

Clinical features from OMIM:

613310

Drugs & Therapeutics for Exudative Vitreoretinopathy 5

Search Clinical Trials , NIH Clinical Center for Exudative Vitreoretinopathy 5

Genetic Tests for Exudative Vitreoretinopathy 5

Genetic tests related to Exudative Vitreoretinopathy 5:

# Genetic test Affiliating Genes
1 Exudative Vitreoretinopathy 5 30 TSPAN12

Anatomical Context for Exudative Vitreoretinopathy 5

MalaCards organs/tissues related to Exudative Vitreoretinopathy 5:

42
Retina, Eye

Publications for Exudative Vitreoretinopathy 5

Articles related to Exudative Vitreoretinopathy 5:

# Title Authors Year
1
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). ( 22427576 )
2012
2
Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy. ( 21334594 )
2011
3
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. ( 20159111 )
2010
4
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. ( 20159112 )
2010
5
Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. ( 15665352 )
2005

Variations for Exudative Vitreoretinopathy 5

UniProtKB/Swiss-Prot genetic disease variations for Exudative Vitreoretinopathy 5:

76
# Symbol AA change Variation ID SNP ID
1 TSPAN12 p.Leu101His VAR_063576 rs267607152
2 TSPAN12 p.Gly188Arg VAR_063577 rs267607151
3 TSPAN12 p.Met210Arg VAR_063578
4 TSPAN12 p.Ala237Pro VAR_063579 rs267607154
5 TSPAN12 p.Thr49Met VAR_068899 rs538591733
6 TSPAN12 p.Tyr138Cys VAR_068900 rs587777283
7 TSPAN12 p.Leu223Pro VAR_068901

ClinVar genetic disease variations for Exudative Vitreoretinopathy 5:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSPAN12 NM_012338.3(TSPAN12): c.709G> C (p.Ala237Pro) single nucleotide variant Pathogenic rs267607154 GRCh37 Chromosome 7, 120428855: 120428855
2 TSPAN12 NM_012338.3(TSPAN12): c.709G> C (p.Ala237Pro) single nucleotide variant Pathogenic rs267607154 GRCh38 Chromosome 7, 120788801: 120788801
3 TSPAN12 NM_012338.3(TSPAN12): c.562G> C (p.Gly188Arg) single nucleotide variant Pathogenic rs267607151 GRCh37 Chromosome 7, 120446653: 120446653
4 TSPAN12 NM_012338.3(TSPAN12): c.562G> C (p.Gly188Arg) single nucleotide variant Pathogenic rs267607151 GRCh38 Chromosome 7, 120806599: 120806599
5 TSPAN12 NM_012338.3(TSPAN12): c.212_218dupGCTGTTT (p.Phe73Leufs) duplication Pathogenic rs1554403626 GRCh37 Chromosome 7, 120478898: 120478904
6 TSPAN12 NM_012338.3(TSPAN12): c.212_218dupGCTGTTT (p.Phe73Leufs) duplication Pathogenic rs1554403626 GRCh38 Chromosome 7, 120838844: 120838850
7 TSPAN12 NM_012338.3(TSPAN12): c.419T> A (p.Leu140Ter) single nucleotide variant Pathogenic rs267607153 GRCh37 Chromosome 7, 120450566: 120450566
8 TSPAN12 NM_012338.3(TSPAN12): c.419T> A (p.Leu140Ter) single nucleotide variant Pathogenic rs267607153 GRCh38 Chromosome 7, 120810512: 120810512
9 TSPAN12 NM_012338.3(TSPAN12): c.361-5_361-1delACCAG deletion Pathogenic rs794726655 GRCh37 Chromosome 7, 120450625: 120450629
10 TSPAN12 NM_012338.3(TSPAN12): c.361-5_361-1delACCAG deletion Pathogenic rs794726655 GRCh38 Chromosome 7, 120810571: 120810575
11 TSPAN12 NM_012338.3(TSPAN12): c.302T> A (p.Leu101His) single nucleotide variant Pathogenic rs267607152 GRCh37 Chromosome 7, 120455841: 120455841
12 TSPAN12 NM_012338.3(TSPAN12): c.302T> A (p.Leu101His) single nucleotide variant Pathogenic rs267607152 GRCh38 Chromosome 7, 120815787: 120815787
13 TSPAN12 NM_012338.3(TSPAN12): c.734T> C (p.Leu245Pro) single nucleotide variant Pathogenic rs200519776 GRCh37 Chromosome 7, 120428830: 120428830
14 TSPAN12 NM_012338.3(TSPAN12): c.734T> C (p.Leu245Pro) single nucleotide variant Pathogenic rs200519776 GRCh38 Chromosome 7, 120788776: 120788776
15 TSPAN12 NM_012338.3(TSPAN12): c.413A> G (p.Tyr138Cys) single nucleotide variant Pathogenic rs587777283 GRCh37 Chromosome 7, 120450572: 120450572
16 TSPAN12 NM_012338.3(TSPAN12): c.413A> G (p.Tyr138Cys) single nucleotide variant Pathogenic rs587777283 GRCh38 Chromosome 7, 120810518: 120810518
17 TSPAN12 NM_012338.3(TSPAN12): c.67-1G> C single nucleotide variant Pathogenic rs587777284 GRCh37 Chromosome 7, 120480164: 120480164
18 TSPAN12 NM_012338.3(TSPAN12): c.67-1G> C single nucleotide variant Pathogenic rs587777284 GRCh38 Chromosome 7, 120840110: 120840110
19 TSPAN12 NM_012338.3(TSPAN12): c.146C> T (p.Thr49Met) single nucleotide variant Pathogenic rs538591733 GRCh37 Chromosome 7, 120480084: 120480084
20 TSPAN12 NM_012338.3(TSPAN12): c.146C> T (p.Thr49Met) single nucleotide variant Pathogenic rs538591733 GRCh38 Chromosome 7, 120840030: 120840030
21 TSPAN12 NM_012338.3(TSPAN12): c.285+1G> A single nucleotide variant Pathogenic rs587777285 GRCh37 Chromosome 7, 120478830: 120478830
22 TSPAN12 NM_012338.3(TSPAN12): c.285+1G> A single nucleotide variant Pathogenic rs587777285 GRCh38 Chromosome 7, 120838776: 120838776
23 TSPAN12 NM_012338.3(TSPAN12): c.542G> T (p.Cys181Phe) single nucleotide variant Pathogenic rs878853243 GRCh37 Chromosome 7, 120446673: 120446673
24 TSPAN12 NM_012338.3(TSPAN12): c.542G> T (p.Cys181Phe) single nucleotide variant Pathogenic rs878853243 GRCh38 Chromosome 7, 120806619: 120806619

Expression for Exudative Vitreoretinopathy 5

Search GEO for disease gene expression data for Exudative Vitreoretinopathy 5.

Pathways for Exudative Vitreoretinopathy 5

GO Terms for Exudative Vitreoretinopathy 5

Sources for Exudative Vitreoretinopathy 5

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