EVR5
MCID: EXD006
MIFTS: 40

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 57 12 29 13 6 15 70
Evr5 57 12 72
Vitreoretinopathy, Exudative, Type 5 39
Vitreoretinopathy, Exudative 5 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
exudative vitreoretinopathy 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111408
OMIM® 57 613310
OMIM Phenotypic Series 57 PS133780
MeSH 44 D012164
MedGen 41 C2750079
UMLS 70 C2750079

Summaries for Exudative Vitreoretinopathy 5

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Exudative Vitreoretinopathy 5, also known as evr5, is related to partial central choroid dystrophy and hereditary choroidal atrophy. An important gene associated with Exudative Vitreoretinopathy 5 is TSPAN12 (Tetraspanin 12), and among its related pathways/superpathways are Neuroscience and Serotonergic synapse. Affiliated tissues include retina, and related phenotypes are reduced visual acuity and tractional retinal detachment

Disease Ontology : 12 An exudative vitreoretinopathy that has material basis in heterozygous mutation in TSPAN12 on chromosome 7q31.31.

UniProtKB/Swiss-Prot : 72 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

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 partial central choroid dystrophy 10.3 ROM1 PRPH2
2 hereditary choroidal atrophy 10.2 ROM1 PRPH2
3 accommodative esotropia 10.2 TSPAN10 PDE6G ARL16
4 butterfly-shaped pigment dystrophy 10.2 ROM1 PRPH2
5 meningococcal infection 10.1 ROM1 GSR
6 alzheimer disease 18 10.1 APP ADAM10
7 anisometropia 10.1 TSPAN10 PDE6G
8 patterned macular dystrophy 10.1 ROM1 RHO
9 peripheral retinal degeneration 10.0 TSPAN12 RHO PRPH2
10 pattern dystrophy 10.0 ROM1 RHO PRPH2
11 gyrate atrophy of choroid and retina 10.0 ROM1 RHO PRPH2
12 stargardt disease 1 9.9 ROM1 RHO PRPH2
13 nanophthalmos 9.9 ROM1 RHO PRPH2
14 vitelliform macular dystrophy 9.9 ROM1 RHO PRPH2
15 fundus albipunctatus 9.9 ROM1 RHO PRPH2
16 retinitis pigmentosa 1 9.9 ROM1 RHO PRPH2 PDE6G
17 prion disease 9.8 NOTCH1 APP ADAM10
18 binswanger's disease 9.8 APP ACHE
19 eye degenerative disease 9.8 ROM1 RHO PRPH2
20 occult macular dystrophy 9.7 RHO PRPH2
21 scrapie 9.7 APP ADAM10 ACHE
22 retinal degeneration 9.6 ROM1 RHO PRPH2 PDE6G APP
23 down syndrome 9.5 GET1 APP ADAM10 ACHE
24 congenital stationary night blindness 9.4 ROM1 RHO PRPH2 PRKCA PDE6G GNAO1
25 fundus dystrophy 9.2 TSPAN12 ROM1 RHO PRPH2 PRKCA PDE6G
26 alzheimer disease 8.9 NOTCH1 GSR GRK2 APP APLP2 ADAM10
27 retinitis pigmentosa 8.9 ROM1 RHO PRPH2 PRKCA PDE6G NOTCH1
28 disease of mental health 7.9 RHO PRKCA NOTCH1 MAF GSR GRK2

Graphical network of the top 20 diseases related to Exudative Vitreoretinopathy 5:



Diseases related to Exudative Vitreoretinopathy 5

Symptoms & Phenotypes for Exudative Vitreoretinopathy 5

Human phenotypes related to Exudative Vitreoretinopathy 5:

31
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 occasional (7.5%) HP:0007663
2 tractional retinal detachment 31 occasional (7.5%) HP:0007917
3 shallow anterior chamber 31 occasional (7.5%) HP:0000594
4 retinal exudate 31 HP:0001147
5 exudative vitreoretinopathy 31 HP:0030490

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 ACHE ADAM10 AKTIP APP GNAO1 GRK2
2 integument MP:0010771 9.81 ADAM10 AKTIP APLP2 APP GNAO1 GRK2
3 nervous system MP:0003631 9.77 ACHE ADAM10 APLP2 APP GET1 GNAO1
4 vision/eye MP:0005391 9.4 ACHE AKTIP GET1 GNAO1 GSR MAF

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 29 TSPAN12

Anatomical Context for Exudative Vitreoretinopathy 5

MalaCards organs/tissues related to Exudative Vitreoretinopathy 5:

40
Retina

Publications for Exudative Vitreoretinopathy 5

Articles related to Exudative Vitreoretinopathy 5:

# Title Authors PMID Year
1
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). 6 57
22427576 2012
2
Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy. 57 6
21334594 2011
3
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. 6 57
20159111 2010
4
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. 57 6
20159112 2010
5
Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. 57 6
15665352 2005
6
Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy. 6
25352738 2014

Variations for Exudative Vitreoretinopathy 5

ClinVar genetic disease variations for Exudative Vitreoretinopathy 5:

6 (show all 50)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSPAN12 NM_012338.4(TSPAN12):c.709G>C (p.Ala237Pro) SNV Pathogenic 319 rs267607154 GRCh37: 7:120428855-120428855
GRCh38: 7:120788801-120788801
2 TSPAN12 NM_012338.4(TSPAN12):c.562G>C (p.Gly188Arg) SNV Pathogenic 320 rs267607151 GRCh37: 7:120446653-120446653
GRCh38: 7:120806599-120806599
3 TSPAN12 NM_012338.4(TSPAN12):c.205_211GCTGTTT[3] (p.Phe73fs) Microsatellite Pathogenic 321 rs1554403626 GRCh37: 7:120478897-120478898
GRCh38: 7:120838843-120838844
4 TSPAN12 NM_012338.4(TSPAN12):c.419T>A (p.Leu140Ter) SNV Pathogenic 322 rs267607153 GRCh37: 7:120450566-120450566
GRCh38: 7:120810512-120810512
5 TSPAN12 NM_012338.4(TSPAN12):c.361-5_361-1del Deletion Pathogenic 323 rs794726655 GRCh37: 7:120450625-120450629
GRCh38: 7:120810571-120810575
6 TSPAN12 NM_012338.4(TSPAN12):c.734T>C (p.Leu245Pro) SNV Pathogenic 31006 rs200519776 GRCh37: 7:120428830-120428830
GRCh38: 7:120788776-120788776
7 TSPAN12 NM_012338.4(TSPAN12):c.413A>G (p.Tyr138Cys) SNV Pathogenic 126503 rs587777283 GRCh37: 7:120450572-120450572
GRCh38: 7:120810518-120810518
8 TSPAN12 NM_012338.4(TSPAN12):c.67-1G>C SNV Pathogenic 126504 rs587777284 GRCh37: 7:120480164-120480164
GRCh38: 7:120840110-120840110
9 TSPAN12 NM_012338.4(TSPAN12):c.146C>T (p.Thr49Met) SNV Pathogenic 126505 rs538591733 GRCh37: 7:120480084-120480084
GRCh38: 7:120840030-120840030
10 TSPAN12 NM_012338.4(TSPAN12):c.285+1G>A SNV Pathogenic 126506 rs587777285 GRCh37: 7:120478830-120478830
GRCh38: 7:120838776-120838776
11 TSPAN12 NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe) SNV Pathogenic 236067 rs878853243 GRCh37: 7:120446673-120446673
GRCh38: 7:120806619-120806619
12 TSPAN12 NM_012338.4(TSPAN12):c.302T>A (p.Leu101His) SNV Pathogenic 324 rs267607152 GRCh37: 7:120455841-120455841
GRCh38: 7:120815787-120815787
13 TSPAN12 NM_012338.4(TSPAN12):c.566G>A (p.Cys189Tyr) SNV Likely pathogenic 804349 rs1335735639 GRCh37: 7:120446649-120446649
GRCh38: 7:120806595-120806595
14 TSPAN12 NM_012338.4(TSPAN12):c.459dup (p.Gln154fs) Duplication Likely pathogenic 931107 GRCh37: 7:120450525-120450526
GRCh38: 7:120810471-120810472
15 TSPAN12 NM_012338.4(TSPAN12):c.67-2A>G SNV Likely pathogenic 373552 rs1057518477 GRCh37: 7:120480165-120480165
GRCh38: 7:120840111-120840111
16 TSPAN12 NM_012338.4(TSPAN12):c.147G>A (p.Thr49=) SNV Uncertain significance 911500 GRCh37: 7:120480083-120480083
GRCh38: 7:120840029-120840029
17 TSPAN12 NM_012338.4(TSPAN12):c.667C>A (p.Leu223Met) SNV Uncertain significance 1030249 GRCh37: 7:120428897-120428897
GRCh38: 7:120788843-120788843
18 TSPAN12 NM_012338.4(TSPAN12):c.*103C>A SNV Uncertain significance 358758 rs886061957 GRCh37: 7:120428543-120428543
GRCh38: 7:120788489-120788489
19 TSPAN12 NM_012338.4(TSPAN12):c.*553C>G SNV Uncertain significance 358756 rs886061956 GRCh37: 7:120428093-120428093
GRCh38: 7:120788039-120788039
20 TSPAN12 NM_012338.4(TSPAN12):c.-102G>A SNV Uncertain significance 358766 rs886061959 GRCh37: 7:120497905-120497905
GRCh38: 7:120857851-120857851
21 TSPAN12 NM_012338.4(TSPAN12):c.-246T>G SNV Uncertain significance 358769 rs545477642 GRCh37: 7:120498049-120498049
GRCh38: 7:120857995-120857995
22 TSPAN12 NM_012338.4(TSPAN12):c.-314G>T SNV Uncertain significance 358772 rs886061963 GRCh37: 7:120498117-120498117
GRCh38: 7:120858063-120858063
23 TSPAN12 NM_012338.4(TSPAN12):c.-151A>C SNV Uncertain significance 908528 GRCh37: 7:120497954-120497954
GRCh38: 7:120857900-120857900
24 TSPAN12 NM_012338.4(TSPAN12):c.-169T>A SNV Uncertain significance 908529 GRCh37: 7:120497972-120497972
GRCh38: 7:120857918-120857918
25 TSPAN12 NM_012338.4(TSPAN12):c.-215G>T SNV Uncertain significance 908530 GRCh37: 7:120498018-120498018
GRCh38: 7:120857964-120857964
26 TSPAN12 NM_012338.4(TSPAN12):c.-232C>T SNV Uncertain significance 908531 GRCh37: 7:120498035-120498035
GRCh38: 7:120857981-120857981
27 TSPAN12 NM_012338.4(TSPAN12):c.*1240A>G SNV Uncertain significance 909304 GRCh37: 7:120427406-120427406
GRCh38: 7:120787352-120787352
28 TSPAN12 NM_012338.4(TSPAN12):c.*887C>G SNV Uncertain significance 909305 GRCh37: 7:120427759-120427759
GRCh38: 7:120787705-120787705
29 TSPAN12 NM_012338.4(TSPAN12):c.*329G>A SNV Uncertain significance 909306 GRCh37: 7:120428317-120428317
GRCh38: 7:120788263-120788263
30 TSPAN12 NM_012338.4(TSPAN12):c.457T>C (p.Phe153Leu) SNV Uncertain significance 358761 rs886061958 GRCh37: 7:120450528-120450528
GRCh38: 7:120810474-120810474
31 TSPAN12 NM_012338.4(TSPAN12):c.304G>T (p.Val102Phe) SNV Uncertain significance 358764 rs777946907 GRCh37: 7:120455839-120455839
GRCh38: 7:120815785-120815785
32 TSPAN12 NM_012338.4(TSPAN12):c.-214G>A SNV Uncertain significance 358767 rs886061960 GRCh37: 7:120498017-120498017
GRCh38: 7:120857963-120857963
33 TSPAN12 NM_012338.4(TSPAN12):c.-314G>C SNV Uncertain significance 909386 GRCh37: 7:120498117-120498117
GRCh38: 7:120858063-120858063
34 TSPAN12 NM_012338.4(TSPAN12):c.*126T>C SNV Uncertain significance 910278 GRCh37: 7:120428520-120428520
GRCh38: 7:120788466-120788466
35 TSPAN12 NM_012338.4(TSPAN12):c.*104C>A SNV Uncertain significance 910279 GRCh37: 7:120428542-120428542
GRCh38: 7:120788488-120788488
36 TSPAN12 NM_012338.4(TSPAN12):c.825A>G (p.Ser275=) SNV Uncertain significance 910280 GRCh37: 7:120428739-120428739
GRCh38: 7:120788685-120788685
37 TSPAN12 NM_012338.4(TSPAN12):c.*40T>C SNV Likely benign 358759 rs375824224 GRCh37: 7:120428606-120428606
GRCh38: 7:120788552-120788552
38 TSPAN12 NM_012338.4(TSPAN12):c.484G>A (p.Val162Ile) SNV Benign 911499 GRCh37: 7:120446731-120446731
GRCh38: 7:120806677-120806677
39 TSPAN12 NM_012338.4(TSPAN12):c.*1243A>T SNV Benign 358752 rs189221112 GRCh37: 7:120427403-120427403
GRCh38: 7:120787349-120787349
40 TSPAN12 NM_012338.4(TSPAN12):c.-127G>T SNV Benign 908527 GRCh37: 7:120497930-120497930
GRCh38: 7:120857876-120857876
41 TSPAN12 NM_012338.4(TSPAN12):c.*39C>T SNV Benign 358760 rs41622 GRCh37: 7:120428607-120428607
GRCh38: 7:120788553-120788553
42 TSPAN12 NM_012338.4(TSPAN12):c.-277C>T SNV Benign 909385 GRCh37: 7:120498080-120498080
GRCh38: 7:120858026-120858026
43 TSPAN12 NM_012338.4(TSPAN12):c.*334A>T SNV Benign 358757 rs545129654 GRCh37: 7:120428312-120428312
GRCh38: 7:120788258-120788258
44 TSPAN12 NM_012338.4(TSPAN12):c.*1270T>G SNV Benign 358751 rs147549883 GRCh37: 7:120427376-120427376
GRCh38: 7:120787322-120787322
45 TSPAN12 NM_012338.4(TSPAN12):c.*1139A>T SNV Benign 358753 rs192303288 GRCh37: 7:120427507-120427507
GRCh38: 7:120787453-120787453
46 TSPAN12 NM_012338.4(TSPAN12):c.360+9A>G SNV Benign 358763 rs116938497 GRCh37: 7:120455774-120455774
GRCh38: 7:120815720-120815720
47 TSPAN12 NM_012338.4(TSPAN12):c.367G>C (p.Val123Leu) SNV Benign 358762 rs145676655 GRCh37: 7:120450618-120450618
GRCh38: 7:120810564-120810564
48 TSPAN12 NM_012338.4(TSPAN12):c.-43G>A SNV Benign 358765 rs377745738 GRCh37: 7:120496860-120496860
GRCh38: 7:120856806-120856806
49 TSPAN12 NM_012338.4(TSPAN12):c.765G>T (p.Pro255=) SNV Benign 260253 rs41623 GRCh37: 7:120428799-120428799
GRCh38: 7:120788745-120788745
50 TSPAN12 NM_012338.4(TSPAN12):c.*998G>A SNV Benign 358755 rs182626886 GRCh37: 7:120427648-120427648
GRCh38: 7:120787594-120787594

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

72
# 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

Expression for Exudative Vitreoretinopathy 5

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

Pathways for Exudative Vitreoretinopathy 5

Pathways related to Exudative Vitreoretinopathy 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.89 RHO NOTCH1 GRK2 GNAO1 APP
2 11.56 PRKCA GNAO1 APP
3 10.99 PRKCA APP ADAM10
4 10.9 RHO PRKCA PDE6G GNAO1
5 10.43 PRKCA MAF

GO Terms for Exudative Vitreoretinopathy 5

Cellular components related to Exudative Vitreoretinopathy 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.2 TSPAN12 TSPAN10 ROM1 RHO PRPH2 PRKCA
2 plasma membrane GO:0005886 10.03 TSPAN12 RHO PRKCA PDE6G NOTCH1 GRK2
3 Golgi-associated vesicle GO:0005798 9.16 APP ADAM10
4 photoreceptor outer segment GO:0001750 9.13 ROM1 RHO PRPH2
5 photoreceptor outer segment membrane GO:0042622 8.8 ROM1 RHO PDE6G

Biological processes related to Exudative Vitreoretinopathy 5 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.89 ROM1 PRPH2 PRKCA APP ACHE
2 protein phosphorylation GO:0006468 9.83 RHO PRKCA GRK2 APP ADAM10
3 Notch signaling pathway GO:0007219 9.63 NOTCH1 APP ADAM10
4 detection of light stimulus involved in visual perception GO:0050908 9.48 ROM1 PRPH2
5 photoreceptor cell outer segment organization GO:0035845 9.4 ROM1 PRPH2
6 cellular process GO:0009987 9.37 GNAO1 APP
7 forebrain development GO:0030900 9.33 NOTCH1 GNAO1 APP
8 rhodopsin mediated signaling pathway GO:0016056 9.32 RHO PDE6G
9 protein heterooligomerization GO:0051291 9.26 ROM1 PRPH2
10 visual perception GO:0007601 9.26 ROM1 RHO PRPH2 PDE6G
11 retina development in camera-type eye GO:0060041 8.92 ROM1 RHO PRPH2 ACHE

Sources for Exudative Vitreoretinopathy 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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