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 70
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 70

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 71 C0339539 C1851402
Orphanet 58 ORPHA891
UMLS 70 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 NDP (Norrin Cystine Knot Growth Factor NDP), and among its related pathways/superpathways are Wnt signaling pathway and ERK Signaling. The drugs Levoleucovorin and Pyrimethamine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone, 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 : 73 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 105)
# 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 PRSS23 NDP LRP5 FZD6
5 vitreoretinopathy 32.1 ZNF408 TSPAN12 RCBTB1 PRSS23 NDP-AS1 NDP
6 retinal detachment 31.9 ZNF408 TSPAN12 NDP-AS1 NDP LRP5 FZD4
7 retinal vascular disease 31.8 ZNF408 TSPAN12 NDP LRP5 FZD4
8 norrie disease 31.4 ZNF408 TSPAN12 PRSS23 NDP-AS1 NDP LRP5
9 coats disease 31.3 ZNF408 TSPAN12 RCBTB1 PRSS23 NDP-AS1 NDP
10 persistent hyperplastic primary vitreous, autosomal recessive 31.1 TSPAN12 NDP-AS1 NDP ATOH7
11 leukocoria 30.9 ZNF408 TSPAN12 NDP LRP5 FZD4 ATOH7
12 osteoporosis-pseudoglioma syndrome 30.9 NDP LRP5 FZD4 CTNNB1
13 microphthalmia 30.7 NDP LRP5 KIF11 CTNNB1 ATOH7
14 persistent hyperplastic primary vitreous 30.7 ZNF408 TSPAN12 NDP-AS1 NDP LRP5 FZD5
15 pathologic nystagmus 30.6 NDP-AS1 NDP ABCA4
16 exudative vitreoretinopathy 5 11.8
17 exudative vitreoretinopathy 6 11.8
18 exudative vitreoretinopathy 7 11.7
19 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.2
20 yemenite deaf-blind hypopigmentation syndrome 10.5
21 microcephaly 10.5
22 retinal disease 10.4
23 retinal telangiectasia 10.4 TSPAN12 NDP FZD4
24 vascular disease 10.4
25 peripheral retinal degeneration 10.4 ZNF408 TSPAN12 ABCA4
26 myopia 10.3
27 macular holes 10.3
28 retinoblastoma 10.3
29 strabismus 10.3
30 macular retinal edema 10.3
31 eye disease 10.3
32 mechanical strabismus 10.3
33 vitreous detachment 10.3
34 fundus dystrophy 10.2 ZNF408 TSPAN12 RCBTB1 PRSS23 LRP5 KIF11
35 schizophrenia 19 10.2 FZD8 FZD5
36 vitreoretinopathy, neovascular inflammatory 10.2
37 retinitis pigmentosa 10.2
38 astigmatism 10.2
39 intraocular pressure quantitative trait locus 10.2
40 hereditary lymphedema i 10.2
41 suppression amblyopia 10.2
42 amblyopia 10.2
43 telangiectasis 10.2
44 uveitis 10.2
45 inherited retinal disorder 10.2
46 cone-rod dystrophy 2 10.2 RCBTB1 LRP5 FZD7 FZD4 FZD1 CTNNB1
47 osteopathia striata with cranial sclerosis 10.1 LRP5 FZD9
48 coloboma of macula 10.1
49 osteoporosis 10.1
50 digeorge syndrome 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
Pyrimethamine Approved, Investigational, Vet_approved 58-14-0 4993
3
chloroquine Approved, Investigational, Vet_approved 54-05-7 2719
4
Sulfadoxine Approved, Investigational 2447-57-6 17134
5
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
6 Folic Acid Antagonists
7 Vitamin B9
8 Antirheumatic Agents
9 Antiparasitic Agents
10 Vitamin B Complex
11 Chloroquine diphosphate 50-63-5
12 Folate
13 Anti-Infective Agents
14 Fanasil, pyrimethamine drug combination
15 Antimalarials
16 Antiprotozoal Agents
17 Amebicides

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, Bone, Endothelial, Cerebellum, Brain

Publications for Exudative Vitreoretinopathy

Articles related to Exudative Vitreoretinopathy:

(show top 50) (show all 438)
# 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
Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients. 6 61
27316669 2016
3
Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. 6 61
25711638 2015
4
Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy. 61 6
24744206 2014
5
Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy. 6 61
25352738 2014
6
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. 61 6
23716654 2013
7
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). 61 6
22427576 2012
8
Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy. 61 6
21334594 2011
9
The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease. 61 6
21097938 2011
10
Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy. 61 6
20938005 2010
11
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. 6 61
20340138 2010
12
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. 6 61
20159111 2010
13
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. 61 6
20159112 2010
14
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. 6 61
15981244 2005
15
Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. 6 61
15665352 2005
16
Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. 61 6
15488808 2004
17
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. 61 6
15024691 2004
18
Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. 6 61
15035989 2004
19
Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. 6 61
14507768 2003
20
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 61 6
12172548 2002
21
Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy. 6 61
9382152 1997
22
Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. 61 6
9143917 1997
23
X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein. 61 6
8946107 1996
24
Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. 61 6
7558002 1995
25
Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy. 61 6
8535448 1995
26
A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. 6 61
8252044 1993
27
X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis. 6 61
8457509 1993
28
Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina. 6 61
6897033 1982
29
Familial exudative vitreo-retinopathy. 6
95062 1979
30
Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants. 61
33527719 2021
31
Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR). 61
33302760 2021
32
Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling. 61
33497368 2021
33
Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly: Two case reports. 61
33655927 2021
34
Analysis of Predisposing Clinical Features for Worsening Traction After Treatment of Familial Exudative Vitreoretinopathy in Children. 61
32707203 2021
35
Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder. 61
33619830 2021
36
Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy. 61
33588793 2021
37
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 2021
38
Coats-like Exudative Vitreoretinopathy in Retinitis Pigmentosa: Ocular Manifestations and Treatment Outcomes. 61
32507488 2021
39
Clinical and genetical features of probands and affected family members with familial exudative vitreoretinopathy in a large Chinese cohort. 61
32238352 2021
40
Persistent vasa hyaloidea propria/retinae in familial exudative vitreoretinopathy. 61
33358962 2020
41
Proliferative Retinopathy in a 13-Year-Old with Adams-Oliver Syndrome. 61
33323896 2020
42
Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR. 61
33104391 2020
43
Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy. 61
33137195 2020
44
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
45
Familial Exudative Vitreoretinopathy With Neurodevelopmental Delay and Hypoplasia of the Corpus Callosum. 61
33104226 2020
46
Characterization of Unique Lens Morphology in a Cohort of Children with Familial Exudative Vitreoretinopathy. 61
32141791 2020
47
Novel variants in familial exudative vitreoretinopathy patients with KIF11 mutations and the Genotype-Phenotype correlation. 61
32730767 2020
48
Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing. 61
32112773 2020
49
Adams Oliver syndrome: A mimicker of familial exudative vitreoretinopathy. 61
32420513 2020
50
Role of blue fundus autofluorescence imaging in differentiating Coats disease from familial exudative vitreoretinopathy. 61
31729069 2020

Variations for Exudative Vitreoretinopathy

ClinVar genetic disease variations for Exudative Vitreoretinopathy:

6 (show top 50) (show all 240)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDP-AS1 , NDP NM_000266.4(NDP):c.361C>T (p.Arg121Trp) SNV Pathogenic 10688 rs104894878 GRCh37: X:43809086-43809086
GRCh38: X:43949840-43949840
2 NDP-AS1 , NDP NM_000266.4(NDP):c.362G>T (p.Arg121Leu) SNV Pathogenic 10695 rs137852220 GRCh37: X:43809085-43809085
GRCh38: X:43949839-43949839
3 TSPAN12 NM_012338.4(TSPAN12):c.709G>C (p.Ala237Pro) SNV Pathogenic 319 rs267607154 GRCh37: 7:120428855-120428855
GRCh38: 7:120788801-120788801
4 TSPAN12 NM_012338.4(TSPAN12):c.562G>C (p.Gly188Arg) SNV Pathogenic 320 rs267607151 GRCh37: 7:120446653-120446653
GRCh38: 7:120806599-120806599
5 TSPAN12 NM_012338.4(TSPAN12):c.205_211GCTGTTT[3] (p.Phe73fs) Microsatellite Pathogenic 321 rs1554403626 GRCh37: 7:120478897-120478898
GRCh38: 7:120838843-120838844
6 TSPAN12 NM_012338.4(TSPAN12):c.419T>A (p.Leu140Ter) SNV Pathogenic 322 rs267607153 GRCh37: 7:120450566-120450566
GRCh38: 7:120810512-120810512
7 TSPAN12 NM_012338.4(TSPAN12):c.361-5_361-1del Deletion Pathogenic 323 rs794726655 GRCh37: 7:120450625-120450629
GRCh38: 7:120810571-120810575
8 TSPAN12 NM_012338.4(TSPAN12):c.302T>A (p.Leu101His) SNV Pathogenic 324 rs267607152 GRCh37: 7:120455841-120455841
GRCh38: 7:120815787-120815787
9 FZD4 , PRSS23 NM_012193.4(FZD4):c.1479_1484del (p.Met493_Trp494del) Deletion Pathogenic 5484 rs80358301 GRCh37: 11:86662314-86662319
GRCh38: 11:86951272-86951277
10 FZD4 , PRSS23 NM_012193.4(FZD4):c.1499_1500CT[1] (p.Leu501fs) Microsatellite Pathogenic 5485 rs80358303 GRCh37: 11:86662296-86662297
GRCh38: 11:86951254-86951255
11 FZD4 , PRSS23 NM_012193.4(FZD4):c.1250G>A (p.Arg417Gln) SNV Pathogenic 5486 rs80358294 GRCh37: 11:86662548-86662548
GRCh38: 11:86951506-86951506
12 FZD4 , PRSS23 NM_012193.4(FZD4):c.1024A>G (p.Met342Val) SNV Pathogenic 5487 rs80358293 GRCh37: 11:86662774-86662774
GRCh38: 11:86951732-86951732
13 FZD4 , PRSS23 NM_012193.4(FZD4):c.1005G>C (p.Trp335Cys) SNV Pathogenic 5488 rs80358292 GRCh37: 11:86662793-86662793
GRCh38: 11:86951751-86951751
14 TSPAN12 NM_012338.4(TSPAN12):c.734T>C (p.Leu245Pro) SNV Pathogenic 31006 rs200519776 GRCh37: 7:120428830-120428830
GRCh38: 7:120788776-120788776
15 TSPAN12 NM_012338.4(TSPAN12):c.413A>G (p.Tyr138Cys) SNV Pathogenic 126503 rs587777283 GRCh37: 7:120450572-120450572
GRCh38: 7:120810518-120810518
16 TSPAN12 NM_012338.4(TSPAN12):c.67-1G>C SNV Pathogenic 126504 rs587777284 GRCh37: 7:120480164-120480164
GRCh38: 7:120840110-120840110
17 TSPAN12 NM_012338.4(TSPAN12):c.146C>T (p.Thr49Met) SNV Pathogenic 126505 rs538591733 GRCh37: 7:120480084-120480084
GRCh38: 7:120840030-120840030
18 TSPAN12 NM_012338.4(TSPAN12):c.285+1G>A SNV Pathogenic 126506 rs587777285 GRCh37: 7:120478830-120478830
GRCh38: 7:120838776-120838776
19 ZNF408 NM_024741.3(ZNF408):c.1363C>T (p.His455Tyr) SNV Pathogenic 204314 rs373273223 GRCh37: 11:46726613-46726613
GRCh38: 11:46705063-46705063
20 NDP-AS1 , NDP NM_000266.4(NDP):c.370C>T (p.Leu124Phe) SNV Pathogenic 10684 rs28933684 GRCh37: X:43809077-43809077
GRCh38: X:43949831-43949831
21 NDP-AS1 , NDP NM_000266.4(NDP):c.328T>G (p.Cys110Gly) SNV Pathogenic 10694 rs104894876 GRCh37: X:43809119-43809119
GRCh38: X:43949873-43949873
22 FZD4 , PRSS23 NM_012193.4(FZD4):c.1278_1281GACA[1] (p.Asp428fs) Microsatellite Pathogenic 224625 rs80358295 GRCh37: 11:86662513-86662516
GRCh38: 11:86951471-86951474
23 FZD4 , PRSS23 NM_012193.4(FZD4):c.313A>G (p.Met105Val) SNV Pathogenic 224624 rs80358284 GRCh37: 11:86663485-86663485
GRCh38: 11:86952443-86952443
24 TSPAN12 NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe) SNV Pathogenic 236067 rs878853243 GRCh37: 7:120446673-120446673
GRCh38: 7:120806619-120806619
25 CTNNB1 NM_001904.4(CTNNB1):c.1434_1435insC (p.Glu479fs) Insertion Pathogenic 225170 rs1057519379 GRCh37: 3:41275268-41275269
GRCh38: 3:41233777-41233778
26 CTNNB1 NM_001904.4(CTNNB1):c.2128C>T (p.Arg710Cys) SNV Pathogenic 225171 rs748653573 GRCh37: 3:41279558-41279558
GRCh38: 3:41238067-41238067
27 CTNNB1 NM_001904.4(CTNNB1):c.2142_2157dup (p.His720Ter) Duplication Pathogenic 225172 rs1057519380 GRCh37: 3:41280628-41280629
GRCh38: 3:41239137-41239138
28 LRP5 NM_002335.4(LRP5):c.4488+2T>G SNV Pathogenic 6287 rs80358322 GRCh37: 11:68207386-68207386
GRCh38: 11:68439918-68439918
29 overlap with 15 genes Deletion Pathogenic 560087 GRCh37: 11:83315294-86755595
GRCh38:
30 LRP5 NM_002335.4(LRP5):c.2737dup (p.Cys913fs) Duplication Pathogenic 287187 rs886043590 GRCh37: 11:68181389-68181390
GRCh38: 11:68413921-68413922
31 FZD4 , PRSS23 NM_012193.4(FZD4):c.313A>G (p.Met105Val) SNV Pathogenic 224624 rs80358284 GRCh37: 11:86663485-86663485
GRCh38: 11:86952443-86952443
32 ZNF408 NM_024741.3(ZNF408):c.1697T>A (p.Leu566His) SNV Pathogenic 812466 rs1425566595 GRCh37: 11:46726947-46726947
GRCh38: 11:46705397-46705397
33 FZD4 , PRSS23 NM_012193.4(FZD4):c.313A>G (p.Met105Val) SNV Pathogenic 224624 rs80358284 GRCh37: 11:86663485-86663485
GRCh38: 11:86952443-86952443
34 FZD4 , PRSS23 NM_012193.4(FZD4):c.766A>G (p.Ile256Val) SNV Pathogenic 5489 rs104894223 GRCh37: 11:86663032-86663032
GRCh38: 11:86951990-86951990
35 LRP5 NM_002335.4(LRP5):c.1412+1G>A SNV Pathogenic 929300 GRCh37: 11:68154181-68154181
GRCh38: 11:68386713-68386713
36 LRP5 NM_002335.4(LRP5):c.2783del (p.Cys928fs) Deletion Pathogenic 1033501 GRCh37: 11:68181436-68181436
GRCh38: 11:68413968-68413968
37 LRP5 NM_002335.4(LRP5):c.2585A>T (p.Asp862Val) SNV Likely pathogenic 929301 GRCh37: 11:68181238-68181238
GRCh38: 11:68413770-68413770
38 FZD4 , PRSS23 NM_012193.4(FZD4):c.964A>T (p.Ile322Phe) SNV Likely pathogenic 929302 GRCh37: 11:86662834-86662834
GRCh38: 11:86951792-86951792
39 FZD4 , PRSS23 NM_012193.4(FZD4):c.615del (p.Tyr206fs) Deletion Likely pathogenic 929303 GRCh37: 11:86663183-86663183
GRCh38: 11:86952141-86952141
40 TSPAN12 NM_012338.4(TSPAN12):c.67-2A>G SNV Likely pathogenic 373552 rs1057518477 GRCh37: 7:120480165-120480165
GRCh38: 7:120840111-120840111
41 LRP5 NM_002335.4(LRP5):c.1270G>A (p.Asp424Asn) SNV Likely pathogenic 982389 GRCh37: 11:68154038-68154038
GRCh38: 11:68386570-68386570
42 LRP5 NM_002335.4(LRP5):c.917G>A (p.Cys306Tyr) SNV Likely pathogenic 915421 GRCh37: 11:68133072-68133072
GRCh38: 11:68365604-68365604
43 TSPAN12 NM_012338.4(TSPAN12):c.459dup (p.Gln154fs) Duplication Likely pathogenic 931107 GRCh37: 7:120450525-120450526
GRCh38: 7:120810471-120810472
44 ZNF408 NM_024741.3(ZNF408):c.943C>T (p.Gln315Ter) SNV Likely pathogenic 931150 GRCh37: 11:46726193-46726193
GRCh38: 11:46704643-46704643
45 TSPAN12 NM_012338.4(TSPAN12):c.566G>A (p.Cys189Tyr) SNV Likely pathogenic 804349 rs1335735639 GRCh37: 7:120446649-120446649
GRCh38: 7:120806595-120806595
46 FZD4 , PRSS23 NM_012193.4(FZD4):c.349T>C (p.Cys117Arg) SNV Likely pathogenic 812323 rs759432455 GRCh37: 11:86663449-86663449
GRCh38: 11:86952407-86952407
47 TSPAN12 NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe) SNV Likely pathogenic 236067 rs878853243 GRCh37: 7:120446673-120446673
GRCh38: 7:120806619-120806619
48 ZNF408 NM_024741.3(ZNF408):c.1174T>C (p.Ser392Pro) SNV Likely pathogenic 812465 rs966073464 GRCh37: 11:46726424-46726424
GRCh38: 11:46704874-46704874
49 LRP5 NM_002335.4(LRP5):c.1265C>T (p.Ala422Val) SNV Likely pathogenic 437991 rs761919591 GRCh37: 11:68154033-68154033
GRCh38: 11:68386565-68386565
50 TSPAN12 NM_012338.4(TSPAN12):c.225_227del (p.Ile76del) Deletion Likely pathogenic 437962 rs1171910750 GRCh37: 7:120478889-120478891
GRCh38: 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 12.22 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 12.13 LRP5 FZD9 FZD8 FZD7 FZD6 FZD5
27 12.12 FZD9 FZD8 FZD7 FZD6 FZD5 FZD4
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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