FEVR
MCID: EXD001
MIFTS: 56

Exudative Vitreoretinopathy (FEVR)

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

Aliases & Classifications for Exudative Vitreoretinopathy

MalaCards integrated aliases for Exudative Vitreoretinopathy:

Name: Exudative Vitreoretinopathy 12 15 71
Familial Exudative Vitreoretinopathy 12 20 43 58 36 29 6
Fevr 12 20 43 58
Criswick-Schepens Syndrome 20 58
Exudative Vitreoretinopathy, Familial 20
Vitreoretinopathy, Exudative ) 39
Exudative Vitreoretinopathy 1 71

Characteristics:

Orphanet epidemiological data:

58
familial exudative vitreoretinopathy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050535
KEGG 36 H00589
ICD9CM 34 362.10
SNOMED-CT 67 193355009
ICD10 32 H35.00
MESH via Orphanet 45 C536382
ICD10 via Orphanet 33 H35.0
UMLS via Orphanet 72 C0339539 C1851402
Orphanet 58 ORPHA891
UMLS 71 C0004608 C1851402 C4072980

Summaries for Exudative Vitreoretinopathy

MedlinePlus Genetics : 43 Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to this tissue.The signs and symptoms of familial exudative vitreoretinopathy vary widely, even within the same family. In many affected individuals, the retinal abnormalities never cause any vision problems. In others, a reduction in the retina's blood supply causes the retina to fold, tear, or separate from the back of the eye (retinal detachment). This retinal damage can lead to vision loss and blindness. Other eye abnormalities are also possible, including eyes that do not look in the same direction (strabismus) and a visible whiteness (leukocoria) in the normally black pupil.Some people with familial exudative vitreoretinopathy also have reduced bone mineral density, which weakens bones and increases the risk of fractures.

MalaCards based summary : Exudative Vitreoretinopathy, also known as familial exudative vitreoretinopathy, is related to exudative vitreoretinopathy 4 and exudative vitreoretinopathy 2, x-linked. An important gene associated with Exudative Vitreoretinopathy is LRP5 (LDL Receptor Related Protein 5), and among its related pathways/superpathways are Wnt signaling pathway and ERK Signaling. The drugs Levoleucovorin and chloroquine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and endothelial, and related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and cardiovascular system

Disease Ontology : 12 A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.

GARD : 20 Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the light-sensitive tissue that lines the back of the eye, by preventing blood vessels from forming at the edges of the retina. This reduces the blood supply to retina. The signs and symptoms include vision loss or blindness, retinal detachment, strabismus, and a visible whiteness (leukocoria) in the normally black pupil. The severity of FEVR varies widely, even within the same family. Many people with this condition do not experience any vision problems.FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheritance. When this condition is caused by mutations in the NDP gene, it has an X-linked pattern of inheritance.

KEGG : 36 Familial exudative vitreoretinopathy (FEVR) is inherited retinal disorders with ocular manifestations that are caused by alterations in the Wnt signaling network. FEVR has an abnormal vascularization of the peripheral retina with the formation of retinal folds, retinal detachment, and in many cases the creation of a fibrovascular membrane located behind the lens. Mutations in NDP, FZD4, and LRP5 have been reported to be responsible for ophthalmic diseases including Norrie disease, FEVR, and osteoporosis pseudoglioma syndrome. The proteins encoded by these genes have all been shown to participate in the Wnt/Norrin signaling pathway. Recently, heterozygous mutations in TSPAN12, which is a component of the Norrin-FZD4-LRP5 signaling complex, have been found to be responsible for autosomal dominant FEVR.

Wikipedia : 74 Familial exudative vitreoretinopathy (FEVR, pronounced as fever) is a genetic disorder affecting the... more...

Related Diseases for Exudative Vitreoretinopathy

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 4 33.4 TSPAN12 NDP LRP5 FZD4
2 exudative vitreoretinopathy 2, x-linked 33.3 NDP-AS1 NDP LRP5 FZD4
3 exudative vitreoretinopathy 3 33.3 TSPAN12 NDP LRP5 FZD4 EVR3
4 exudative vitreoretinopathy 1 33.2 ZNF408 TSPAN12 NDP LRP5 FZD6 FZD4
5 vitreoretinopathy 32.2 ZNF408 TSPAN12 RCBTB1 NDP LRP5 KIF11
6 retinal detachment 31.8 ZNF408 TSPAN12 NDP-AS1 NDP LRP5 FZD4
7 retinal vascular disease 31.7 ZNF408 TSPAN12 NDP LRP5 FZD4
8 norrie disease 31.5 ZNF408 TSPAN12 NDP-AS1 NDP LRP5 FZD4
9 coats disease 31.3 ZNF408 TSPAN12 RCBTB1 NDP LRP5 FZD4
10 persistent hyperplastic primary vitreous, autosomal recessive 31.0 TSPAN12 NDP-AS1 ATOH7
11 leukocoria 30.9 ZNF408 TSPAN12 NDP LRP5 FZD4 ATOH7
12 osteoporosis-pseudoglioma syndrome 30.9 NDP LRP5 FZD4 CTNNB1
13 persistent hyperplastic primary vitreous 30.7 ZNF408 TSPAN12 NDP-AS1 NDP LRP5 FZD5
14 exudative vitreoretinopathy 5 11.8
15 exudative vitreoretinopathy 6 11.7
16 exudative vitreoretinopathy 7 11.7
17 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.2
18 yemenite deaf-blind hypopigmentation syndrome 10.5
19 microcephaly 10.5
20 retinal disease 10.4
21 vascular disease 10.4
22 retinal telangiectasia 10.3 TSPAN12 NDP FZD4
23 myopia 10.3
24 macular holes 10.3
25 peripheral retinal degeneration 10.3 ZNF408 TSPAN12 ABCA4
26 retinoblastoma 10.3
27 strabismus 10.3
28 macular retinal edema 10.3
29 eye disease 10.3
30 mechanical strabismus 10.3
31 vitreous detachment 10.3
32 fundus dystrophy 10.2 ZNF408 TSPAN12 RCBTB1 LRP5 KIF11 FZD4
33 retinitis pigmentosa 10.2
34 astigmatism 10.2
35 intraocular pressure quantitative trait locus 10.2
36 suppression amblyopia 10.2
37 amblyopia 10.2
38 microphthalmia 10.2
39 telangiectasis 10.2
40 uveitis 10.2
41 inherited retinal disorder 10.2
42 osteopathia striata with cranial sclerosis 10.1 LRP5 FZD9
43 coloboma of macula 10.1
44 osteoporosis 10.1
45 digeorge syndrome 10.1
46 vitreoretinopathy, neovascular inflammatory 10.1
47 bone mineral density quantitative trait locus 8 10.1
48 bone mineral density quantitative trait locus 15 10.1
49 cone dystrophy 10.1
50 alternating exotropia 10.1

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



Diseases related to Exudative Vitreoretinopathy

Symptoms & Phenotypes for Exudative Vitreoretinopathy

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.17 FZD1 FZD4 FZD6 FZD7 FZD9 TSPAN12

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 ABCA4 ATOH7 CTNNB1 FZD1 FZD4 FZD5
2 nervous system MP:0003631 9.9 ABCA4 ATOH7 CTNNB1 FZD1 FZD4 FZD5
3 hearing/vestibular/ear MP:0005377 9.73 CTNNB1 FZD1 FZD4 FZD6 NDP TSPAN12
4 pigmentation MP:0001186 9.5 ABCA4 CTNNB1 FZD1 FZD4 FZD7 LRP5
5 vision/eye MP:0005391 9.28 ABCA4 ATOH7 CTNNB1 FZD4 FZD5 FZD6

Drugs & Therapeutics for Exudative Vitreoretinopathy

Drugs for Exudative Vitreoretinopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levoleucovorin Approved, Investigational 68538-85-2 149436
2
chloroquine Approved, Investigational, Vet_approved 54-05-7 2719
3
Pyrimethamine Approved, Investigational, Vet_approved 58-14-0 4993
4
Sulfadoxine Approved, Investigational 2447-57-6 17134
5
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
6 Folic Acid Antagonists
7 Anti-Infective Agents
8 Amebicides
9 Vitamin B Complex
10 Antiparasitic Agents
11 Antiprotozoal Agents
12 Antirheumatic Agents
13 Chloroquine diphosphate 50-63-5
14 Vitamin B9
15 Fanasil, pyrimethamine drug combination
16 Antimalarials
17 Folate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Familial Exudative Vitreoretinopathy Clinical and Molecular Studies Completed NCT00106756
2 Community Acceptability and Cost-effectiveness of Two Drug Distribution Methods for Home Based Management of Fevr in Kayunga District, Uganda Terminated NCT00259142 Chloroquine, sulphadoxine-pyrimethamine

Search NIH Clinical Center for Exudative Vitreoretinopathy

Genetic Tests for Exudative Vitreoretinopathy

Genetic tests related to Exudative Vitreoretinopathy:

# Genetic test Affiliating Genes
1 Familial Exudative Vitreoretinopathy 29

Anatomical Context for Exudative Vitreoretinopathy

MalaCards organs/tissues related to Exudative Vitreoretinopathy:

40
Retina, Eye, Endothelial, Brain, Cerebellum

Publications for Exudative Vitreoretinopathy

Articles related to Exudative Vitreoretinopathy:

(show top 50) (show all 434)
# Title Authors PMID Year
1
An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature. 6 61
29982478 2018
2
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. 6 61
23716654 2013
3
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). 6 61
22427576 2012
4
Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy. 6 61
21334594 2011
5
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. 61 6
20159111 2010
6
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. 6 61
20159112 2010
7
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. 61 6
15981244 2005
8
Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. 61 6
15665352 2005
9
Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. 61 6
15488808 2004
10
Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. 61 6
14507768 2003
11
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 61 6
12172548 2002
12
Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy. 6 61
9618247 1998
13
Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy. 61 6
9382152 1997
14
X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein. 61 6
8946107 1996
15
Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. 6 61
7558002 1995
16
Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy. 61 6
8535448 1995
17
A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. 6 61
8252044 1993
18
X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis. 61 6
8457509 1993
19
Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina. 61 6
6897033 1982
20
Familial exudative vitreo-retinopathy. 6
95062 1979
21
Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants. 61
33527719 2021
22
Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy. 61
33588793 2021
23
Coats-like Exudative Vitreoretinopathy in Retinitis Pigmentosa: Ocular Manifestations and Treatment Outcomes. 61
32507488 2021
24
Catenin alpha 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/beta-catenin signaling. 61
33497368 2021
25
Clinical and genetical features of probands and affected family members with familial exudative vitreoretinopathy in a large Chinese cohort. 61
32238352 2021
26
Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR). 61
33302760 2020
27
Proliferative Retinopathy in a 13-Year-Old with Adams-Oliver Syndrome. 61
33323896 2020
28
Persistent vasa hyaloidea propria/retinae in familial exudative vitreoretinopathy. 61
33358962 2020
29
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype. 61
33350591 2020
30
Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR. 61
33104391 2020
31
Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy. 61
33137195 2020
32
An induced pluripotent stem cell line (EHTJUi002-A) derived from a neonate with c.678G>A mutation in the gene FZD4 causing exudative vitreoretinopathy. 61
32889247 2020
33
Characterization of Unique Lens Morphology in a Cohort of Children with Familial Exudative Vitreoretinopathy. 61
32141791 2020
34
Familial Exudative Vitreoretinopathy With Neurodevelopmental Delay and Hypoplasia of the Corpus Callosum. 61
33104226 2020
35
Novel variants in familial exudative vitreoretinopathy patients with KIF11 mutations and the Genotype-Phenotype correlation. 61
32730767 2020
36
Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing. 61
32112773 2020
37
Adams Oliver syndrome: A mimicker of familial exudative vitreoretinopathy. 61
32420513 2020
38
Role of blue fundus autofluorescence imaging in differentiating Coats disease from familial exudative vitreoretinopathy. 61
31729069 2020
39
Early detection of ocular abnormalities in a Chinese multicentre neonatal eye screening programme-1-year result. 61
32930484 2020
40
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies. 61
32860923 2020
41
Ultra-wide-field scanning laser ophthalmoscopy and optical coherence tomography in FEVR: findings and its diagnostic ability. 61
32788330 2020
42
Outcome and risk factors of vitreoretinal surgery in pediatric patients with familial exudative vitreoretinopathy. 61
32385748 2020
43
Low-Density Lipoprotein Receptor-Related Protein 5-Deficient Rats Have Reduced Bone Mass and Abnormal Development of the Retinal Vasculature. 61
32833527 2020
44
ETIOLOGY AND CLINICAL CHARACTERISTICS OF MACULAR EDEMA IN PATIENTS WITH FAMILIAL EXUDATIVE VITREORETINOPATHY. 61
31404032 2020
45
Analysis of Predisposing Clinical Features for Worsening Traction After Treatment of Familial Exudative Vitreoretinopathy in Children. 61
32707203 2020
46
Outcomes of surgery in eyes with familial exudative vitreoretinopathyassociated retinal detachment. 61
31941588 2020
47
Select pediatric vitreoretinal disease in the setting of Turner's syndrome. 61
32274445 2020
48
Viscodelamination of Localized Retrolental Plaques During Lens-Sparing Vitrectomy in Eyes With Pediatric Tractional Vitreoretinopathy. 61
32516225 2020
49
Unrecognized ROPER in a child with a novel pathogenic variant in ZNF408 gene. 61
32530348 2020
50
MACULAR CAPILLARY DROPOUT IN FAMILIAL EXUDATIVE VITREORETINOPATHY AND ITS RELATIONSHIP WITH VISUAL ACUITY AND DISEASE PROGRESSION. 61
30865063 2020

Variations for Exudative Vitreoretinopathy

ClinVar genetic disease variations for Exudative Vitreoretinopathy:

6 (show top 50) (show all 237)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NDP-AS1 NM_000266.4(NDP):c.370C>T (p.Leu124Phe) SNV Pathogenic 10684 rs28933684 X:43809077-43809077 X:43949831-43949831
2 NDP-AS1 NM_000266.4(NDP):c.361C>T (p.Arg121Trp) SNV Pathogenic 10688 rs104894878 X:43809086-43809086 X:43949840-43949840
3 NDP-AS1 NM_000266.4(NDP):c.328T>G (p.Cys110Gly) SNV Pathogenic 10694 rs104894876 X:43809119-43809119 X:43949873-43949873
4 NDP-AS1 NM_000266.4(NDP):c.362G>T (p.Arg121Leu) SNV Pathogenic 10695 rs137852220 X:43809085-43809085 X:43949839-43949839
5 ZNF408 NM_024741.3(ZNF408):c.1697T>A (p.Leu566His) SNV Pathogenic 812466 rs1425566595 11:46726947-46726947 11:46705397-46705397
6 TSPAN12 NM_012338.4(TSPAN12):c.709G>C (p.Ala237Pro) SNV Pathogenic 319 rs267607154 7:120428855-120428855 7:120788801-120788801
7 TSPAN12 NM_012338.4(TSPAN12):c.562G>C (p.Gly188Arg) SNV Pathogenic 320 rs267607151 7:120446653-120446653 7:120806599-120806599
8 TSPAN12 NM_012338.4(TSPAN12):c.205_211GCTGTTT[3] (p.Phe73fs) Microsatellite Pathogenic 321 rs1554403626 7:120478897-120478898 7:120838843-120838844
9 TSPAN12 NM_012338.4(TSPAN12):c.419T>A (p.Leu140Ter) SNV Pathogenic 322 rs267607153 7:120450566-120450566 7:120810512-120810512
10 TSPAN12 NM_012338.4(TSPAN12):c.361-5_361-1del Deletion Pathogenic 323 rs794726655 7:120450625-120450629 7:120810571-120810575
11 TSPAN12 NM_012338.4(TSPAN12):c.302T>A (p.Leu101His) SNV Pathogenic 324 rs267607152 7:120455841-120455841 7:120815787-120815787
12 FZD4 NM_012193.4(FZD4):c.1479_1484del (p.Met493_Trp494del) Deletion Pathogenic 5484 rs80358301 11:86662314-86662319 11:86951272-86951277
13 FZD4 NM_012193.4(FZD4):c.1499_1500CT[1] (p.Leu501fs) Microsatellite Pathogenic 5485 rs80358303 11:86662296-86662297 11:86951254-86951255
14 FZD4 NM_012193.4(FZD4):c.1250G>A (p.Arg417Gln) SNV Pathogenic 5486 rs80358294 11:86662548-86662548 11:86951506-86951506
15 FZD4 NM_012193.4(FZD4):c.1024A>G (p.Met342Val) SNV Pathogenic 5487 rs80358293 11:86662774-86662774 11:86951732-86951732
16 FZD4 NM_012193.4(FZD4):c.1005G>C (p.Trp335Cys) SNV Pathogenic 5488 rs80358292 11:86662793-86662793 11:86951751-86951751
17 TSPAN12 NM_012338.4(TSPAN12):c.734T>C (p.Leu245Pro) SNV Pathogenic 31006 rs200519776 7:120428830-120428830 7:120788776-120788776
18 TSPAN12 NM_012338.4(TSPAN12):c.413A>G (p.Tyr138Cys) SNV Pathogenic 126503 rs587777283 7:120450572-120450572 7:120810518-120810518
19 TSPAN12 NM_012338.4(TSPAN12):c.67-1G>C SNV Pathogenic 126504 rs587777284 7:120480164-120480164 7:120840110-120840110
20 TSPAN12 NM_012338.4(TSPAN12):c.146C>T (p.Thr49Met) SNV Pathogenic 126505 rs538591733 7:120480084-120480084 7:120840030-120840030
21 TSPAN12 NM_012338.4(TSPAN12):c.285+1G>A SNV Pathogenic 126506 rs587777285 7:120478830-120478830 7:120838776-120838776
22 ZNF408 NM_024741.3(ZNF408):c.1363C>T (p.His455Tyr) SNV Pathogenic 204314 rs373273223 11:46726613-46726613 11:46705063-46705063
23 LRP5 NM_002335.4(LRP5):c.4488+2T>G SNV Pathogenic 6287 rs80358322 11:68207386-68207386 11:68439918-68439918
24 FZD4 NM_012193.4(FZD4):c.1278_1281GACA[1] (p.Asp428fs) Microsatellite Pathogenic 224625 rs80358295 11:86662513-86662516 11:86951471-86951474
25 FZD4 NM_012193.4(FZD4):c.313A>G (p.Met105Val) SNV Pathogenic 224624 rs80358284 11:86663485-86663485 11:86952443-86952443
26 TSPAN12 NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe) SNV Pathogenic 236067 rs878853243 7:120446673-120446673 7:120806619-120806619
27 CTNNB1 NM_001904.4(CTNNB1):c.1434_1435insC (p.Glu479fs) Insertion Pathogenic 225170 rs1057519379 3:41275268-41275269 3:41233777-41233778
28 CTNNB1 NM_001904.4(CTNNB1):c.2128C>T (p.Arg710Cys) SNV Pathogenic 225171 rs748653573 3:41279558-41279558 3:41238067-41238067
29 CTNNB1 NM_001904.4(CTNNB1):c.2142_2157dup (p.His720Ter) Duplication Pathogenic 225172 rs1057519380 3:41280628-41280629 3:41239137-41239138
30 CREBZF Deletion Pathogenic 560087 11:83315294-86755595
31 LRP5 NM_002335.4(LRP5):c.2737dup (p.Cys913fs) Duplication Pathogenic 287187 rs886043590 11:68181389-68181390 11:68413921-68413922
32 FZD4 NM_012193.4(FZD4):c.313A>G (p.Met105Val) SNV Pathogenic 224624 rs80358284 11:86663485-86663485 11:86952443-86952443
33 FZD4 NM_012193.4(FZD4):c.313A>G (p.Met105Val) SNV Pathogenic 224624 rs80358284 11:86663485-86663485 11:86952443-86952443
34 FZD4 NM_012193.4(FZD4):c.766A>G (p.Ile256Val) SNV Pathogenic 5489 rs104894223 11:86663032-86663032 11:86951990-86951990
35 LRP5 NM_002335.4(LRP5):c.1412+1G>A SNV Pathogenic 929300 11:68154181-68154181 11:68386713-68386713
36 LRP5 NM_002335.4(LRP5):c.2585A>T (p.Asp862Val) SNV Likely pathogenic 929301 11:68181238-68181238 11:68413770-68413770
37 FZD4 NM_012193.4(FZD4):c.964A>T (p.Ile322Phe) SNV Likely pathogenic 929302 11:86662834-86662834 11:86951792-86951792
38 FZD4 NM_012193.4(FZD4):c.615del (p.Tyr206fs) Deletion Likely pathogenic 929303 11:86663183-86663183 11:86952141-86952141
39 TSPAN12 NM_012338.4(TSPAN12):c.67-2A>G SNV Likely pathogenic 373552 rs1057518477 7:120480165-120480165 7:120840111-120840111
40 LRP5 NM_002335.4(LRP5):c.1270G>A (p.Asp424Asn) SNV Likely pathogenic 982389 11:68154038-68154038 11:68386570-68386570
41 TSPAN12 NM_012338.4(TSPAN12):c.459dup (p.Gln154fs) Duplication Likely pathogenic 931107 7:120450525-120450526 7:120810471-120810472
42 ZNF408 NM_024741.3(ZNF408):c.943C>T (p.Gln315Ter) SNV Likely pathogenic 931150 11:46726193-46726193 11:46704643-46704643
43 LRP5 NM_002335.4(LRP5):c.917G>A (p.Cys306Tyr) SNV Likely pathogenic 915421 11:68133072-68133072 11:68365604-68365604
44 TSPAN12 NM_012338.4(TSPAN12):c.566G>A (p.Cys189Tyr) SNV Likely pathogenic 804349 rs1335735639 7:120446649-120446649 7:120806595-120806595
45 TSPAN12 NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe) SNV Likely pathogenic 236067 rs878853243 7:120446673-120446673 7:120806619-120806619
46 NDP-AS1 NM_000266.4(NDP):c.200G>T (p.Gly67Val) SNV Likely pathogenic 522928 rs1460859456 X:43809247-43809247 X:43950001-43950001
47 FZD4 NM_012193.4(FZD4):c.349T>C (p.Cys117Arg) SNV Likely pathogenic 812323 rs759432455 11:86663449-86663449 11:86952407-86952407
48 ZNF408 NM_024741.3(ZNF408):c.1174T>C (p.Ser392Pro) SNV Likely pathogenic 812465 rs966073464 11:46726424-46726424 11:46704874-46704874
49 LRP5 NM_002335.4(LRP5):c.1265C>T (p.Ala422Val) SNV Likely pathogenic 437991 rs761919591 11:68154033-68154033 11:68386565-68386565
50 TSPAN12 NM_012338.4(TSPAN12):c.225_227del (p.Ile76del) Deletion Likely pathogenic 437962 rs1171910750 7:120478889-120478891 7:120838835-120838837

Expression for Exudative Vitreoretinopathy

Search GEO for disease gene expression data for Exudative Vitreoretinopathy.

Pathways for Exudative Vitreoretinopathy

Pathways related to Exudative Vitreoretinopathy according to KEGG:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

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

(show all 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
2
Show member pathways
13.47 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
3
Show member pathways
13.33 TUBGCP6 FZD9 FZD8 FZD7 FZD6 FZD5
4
Show member pathways
13.06 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
5
Show member pathways
12.99 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
6
Show member pathways
12.98 LRP5 FZD8 FZD7 FZD6 FZD5 FZD4
7 12.96 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
8
Show member pathways
12.88 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
9
Show member pathways
12.64 LRP5 FZD8 FZD6 FZD5 FZD4 FZD1
10
Show member pathways
12.64 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
11
Show member pathways
12.59 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
12 12.56 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
13
Show member pathways
12.54 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
14
Show member pathways
12.46 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
15
Show member pathways
12.44 FZD8 FZD5 FZD4 CTNNB1
16 12.44 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
17 12.29 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
18
Show member pathways
12.27 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
19 12.24 FZD9 FZD5 FZD4 FZD1
20 12.23 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
21 12.21 LRP5 FZD6 FZD5 CTNNB1
22 12.21 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
23 12.2 FZD9 FZD5 FZD4 FZD1
24 12.19 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
25
Show member pathways
12.15 FZD9 FZD5 FZD4 FZD1
26 12.12 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
27 12.11 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
28 12.1 FZD8 FZD5 FZD4 CTNNB1
29 12.05 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
30 11.81 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
31
Show member pathways
11.47 LRP5 FZD8 FZD6 FZD5 FZD4
32 11.39 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
33 11.19 LRP5 FZD6 CTNNB1
34 11.15 FZD8 FZD7 FZD1 CTNNB1
35 10.67 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5

GO Terms for Exudative Vitreoretinopathy

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

# Name GO ID Score Top Affiliating Genes
1 spindle pole GO:0000922 9.43 TUBGCP6 KIF11 CTNNB1
2 cell surface GO:0009986 9.43 NDP FZD9 FZD6 FZD5 FZD4 FZD1
3 apicolateral plasma membrane GO:0016327 9.16 FZD6 CTNNB1
4 Wnt signalosome GO:1990909 8.8 LRP5 FZD1 CTNNB1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.15 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
2 G protein-coupled receptor signaling pathway GO:0007186 10.13 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
3 positive regulation of transcription, DNA-templated GO:0045893 10.04 NDP LRP5 FZD7 FZD4 FZD1 CTNNB1
4 positive regulation of DNA-binding transcription factor activity GO:0051091 9.88 NDP LRP5 FZD4 FZD1 CTNNB1
5 neuron differentiation GO:0030182 9.87 FZD8 FZD7 FZD5 FZD4 FZD1 CTNNB1
6 cell surface receptor signaling pathway GO:0007166 9.86 TSPAN12 FZD9 FZD8 FZD7 FZD6 FZD5
7 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.8 FZD7 FZD6 FZD5 FZD4 FZD1
8 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.73 FZD6 FZD5 FZD4 CTNNB1
9 T cell differentiation in thymus GO:0033077 9.71 FZD7 FZD5 CTNNB1
10 vasculature development GO:0001944 9.7 LRP5 FZD5 CTNNB1
11 non-canonical Wnt signaling pathway GO:0035567 9.7 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
12 beta-catenin destruction complex disassembly GO:1904886 9.69 FZD5 FZD1 CTNNB1
13 retina vasculature morphogenesis in camera-type eye GO:0061299 9.63 NDP LRP5 FZD4
14 positive regulation of neural precursor cell proliferation GO:2000179 9.61 FZD9 CTNNB1
15 positive regulation of mesenchymal cell proliferation GO:0002053 9.61 LRP5 CTNNB1
16 canonical Wnt signaling pathway GO:0060070 9.61 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
17 negative regulation of cell-substrate adhesion GO:0010812 9.6 FZD7 FZD4
18 gastrulation with mouth forming second GO:0001702 9.59 LRP5 CTNNB1
19 embryonic axis specification GO:0000578 9.58 FZD5 CTNNB1
20 retinal blood vessel morphogenesis GO:0061304 9.56 LRP5 FZD4
21 canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation GO:0044338 9.55 FZD1 CTNNB1
22 extracellular matrix-cell signaling GO:0035426 9.54 NDP LRP5 FZD4
23 Wnt signaling pathway GO:0016055 9.36 TSPAN12 NDP LRP5 FZD9 FZD8 FZD7

Molecular functions related to Exudative Vitreoretinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 9.87 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
2 ubiquitin protein ligase binding GO:0031625 9.73 FZD8 FZD6 FZD5 FZD4
3 transmembrane signaling receptor activity GO:0004888 9.7 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
4 amyloid-beta binding GO:0001540 9.58 FZD6 FZD5 FZD4
5 PDZ domain binding GO:0030165 9.56 FZD8 FZD7 FZD4 FZD1
6 Wnt-protein binding GO:0017147 9.56 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
7 frizzled binding GO:0005109 9.54 NDP FZD7 FZD1
8 Wnt-activated receptor activity GO:0042813 9.28 TSPAN12 LRP5 FZD9 FZD8 FZD7 FZD6

Sources for Exudative Vitreoretinopathy

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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