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FEVR
MCID: EXD001
MIFTS: 60

Exudative Vitreoretinopathy (FEVR)

Categories: Blood diseases, Cardiovascular diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Exudative Vitreoretinopathy

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MalaCards integrated aliases for Exudative Vitreoretinopathy:

Name: Exudative Vitreoretinopathy 11 14 71
Familial Exudative Vitreoretinopathy 11 19 42 58 28 5 75
Fevr 11 19 42 58
Criswick-Schepens Syndrome 19 58
Exudative Vitreoretinopathy, Familial 19
Vitreoretinopathy, Exudative ) 38
Exudative Vitreoretinopathy 1 71

Characteristics:


Inheritance:

Familial Exudative Vitreoretinopathy: Autosomal dominant,Autosomal recessive,X-linked recessive 58

Age Of Onset:

Familial Exudative Vitreoretinopathy: Infancy,Neonatal 58

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

Disease Ontology 11 DOID:0050535
ICD9CM 34 362.10
SNOMED-CT 68 193355009
MESH via Orphanet 44 C536382
ICD10 via Orphanet 32 H35.0
UMLS via Orphanet 72 C0339539 C1851402
Orphanet 58 ORPHA891
UMLS 71 C0004608 C1851402 C4072980
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Summaries for Exudative Vitreoretinopathy

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MedlinePlus Genetics: 42 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 1 and vitreoretinopathy. An important gene associated with Exudative Vitreoretinopathy is LRP5 (LDL Receptor Related Protein 5), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Signaling by WNT. The drugs Bromfenac and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone, and related phenotypes are vitreoretinopathy and peripheral retinal avascularization

GARD: 19 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 genetic changes in the FZD4 or LRP5 gene. FEVR caused by LRP5 genetic changes can also have an autosomal recessive inheritance. When this condition is caused by genetic changes in the NDP gene, it has an X-linked pattern of inheritance.

Orphanet: 58 Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.

Disease Ontology: 11 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.

Wikipedia: 75 Familial exudative vitreoretinopathy (FEVR, pronounced as fever) is a genetic disorder affecting the... more...
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Related Diseases for Exudative Vitreoretinopathy

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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 160)
# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 1 33.4 ZNF408 TSPAN12 PRSS23 NDP LRP5 FZD4
2 vitreoretinopathy 32.4 ZNF408 TSPAN12 NDP LRP5 FZD4 EVR3
3 retinal detachment 32.0 ZNF408 TSPAN12 NDP LRP5 FZD4 CTNNB1
4 retinal vascular disease 31.8 ZNF408 TSPAN12 NDP FZD4 CRYAA
5 coats disease 31.4 ZNF408 TSPAN12 RCBTB1 PRSS23 NDP LRP5
6 norrie disease 31.2 ZNF408 ZFPM1 WNT7B WNT7A WNT3A TSPAN12
7 persistent hyperplastic primary vitreous, autosomal recessive 31.1 TSPAN12 ATOH7
8 strabismus 31.1 ZNF408 TSPAN12 FZD4 CTNNB1 CRYAA
9 peripheral retinal degeneration 31.1 ZNF408 TSPAN12 RPGR
10 eye disease 31.0 TSPAN12 RPGR NDP LRP5 FZD4 CTNNB1
11 osteoporosis-pseudoglioma syndrome 30.9 WNT3A NDP LRP6 LRP5 FZD4 CTNNB1
12 leukocoria 30.9 ZNF408 TSPAN12 NDP LRP5 FZD4 CRYAA
13 microphthalmia 30.8 WNT3A KIF11 CTNNB1 CRYAA ATOH7
14 osteoporosis 30.7 WNT3A NDP LRP6 LRP5 FZD4 CTNNB1
15 persistent hyperplastic primary vitreous 30.7 ZNF408 ZFPM1 WNT7B TSPAN12 NDP LRP5
16 retinitis pigmentosa 30.6 ZNF408 ZFPM1 TSPAN12 RPGR RCBTB1 NDP
17 vitreoretinal dystrophy 30.6 ZNF408 TSPAN12 CRYAA
18 retinal telangiectasia 30.5 ZNF408 TSPAN12 RCBTB1 NDP LRP5 FZD4
19 fundus dystrophy 30.5 ZNF408 TSPAN12 RPGR RCBTB1 PRSS23 LRP5
20 vitreous syneresis 30.4 RPGR CRYAA
21 exudative vitreoretinopathy 4 11.9
22 exudative vitreoretinopathy 2, x-linked 11.9
23 exudative vitreoretinopathy 5 11.9
24 exudative vitreoretinopathy 3 11.8
25 exudative vitreoretinopathy 6 11.8
26 exudative vitreoretinopathy 7 11.8
27 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.3
28 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.8
29 retinal disease 10.6
30 microcephaly 10.5
31 myopia 10.4
32 vascular disease 10.4
33 ndp-related retinopathies 10.4
34 ectodermal dysplasia 13, hair/tooth type 10.4 LRP6 LRP5 CTNNB1
35 vitreoretinal degeneration 10.4 TSPAN12 LRP5
36 vitreous disease 10.4 NDP FZD4 CRYAA ATOH7
37 craniodiaphyseal dysplasia, autosomal dominant 10.4 WNT3A LRP6 LRP5 CTNNB1
38 enterobiasis 10.4 LRP6 CTNNB1
39 van buchem disease 10.4 WNT3A LRP6 LRP5 CTNNB1
40 sclerosteosis 10.4 WNT3A LRP6 LRP5 CTNNB1
41 tetraamelia syndrome 10.4 WNT7A WNT3A LRP5
42 macular retinal edema 10.4
43 inherited retinal disorder 10.4
44 hypotrichosis simplex 10.4 WNT3A LRP5
45 brittle bone disorder 10.4 WNT3A LRP6 LRP5 CTNNB1
46 osteopetrosis, autosomal dominant 1 10.4 LRP6 LRP5
47 polycystic liver disease 10.4 LRP6 LRP5 CTNNB1
48 tooth agenesis 10.3 WNT7A WNT3A LRP6 LRP5 CTNNB1
49 osteochondrodysplasia 10.3 WNT3A LRP6 LRP5 CTNNB1
50 macular holes 10.3

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



Diseases related to Exudative Vitreoretinopathy
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Symptoms & Phenotypes for Exudative Vitreoretinopathy

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Human phenotypes related to Exudative Vitreoretinopathy:

58 30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vitreoretinopathy 58 30 Obligate (100%) Obligate (100%)
 HP:0007773
2 peripheral retinal avascularization 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0007685
3 tractional retinal detachment 58 30 Frequent (33%) Frequent (79-30%)
 HP:0007917
4 subretinal fluid 58 30 Frequent (33%) Frequent (79-30%)
 HP:0031526
5 retinal neovascularization 58 30 Frequent (33%) Frequent (79-30%)
 HP:0030666
6 falciform retinal fold 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001493
7 abnormal optic disc morphology 30 Frequent (33%) HP:0012795
8 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000365
9 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000518
10 microcephaly 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000252
11 blindness 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000618
12 intellectual disability, mild 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001256
13 reduced bone mineral density 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0004349
14 lymphedema 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001004
15 motor delay 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001270
16 microphthalmia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000568
17 vitreous hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0007902
18 mild global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0011342
19 severely reduced visual acuity 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001141
20 vitreous floaters 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100832
21 macular edema 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0040049
22 epiretinal membrane 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100014
23 macular telangiectasia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0030503
24 chorioretinal atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000533
25 rhegmatogenous retinal detachment 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0012230
26 macular exudate 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0030496
27 reduced visual acuity 58 Frequent (79-30%)
28 abnormality of the optic disc 58 Frequent (79-30%)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Wnt reporter upregulated GR00017-A-0 8.32 WNT3A

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 ATOH7 CTNNB1 FZD4 FZD5 LRP5 LRP6
2 no phenotypic analysis MP:0003012 9.91 CTNNB1 FZD4 LRP6 NDP RPGR WNT3A
3 embryo MP:0005380 9.85 CTNNB1 FZD4 FZD5 KIF11 LRP5 LRP6
4 pigmentation MP:0001186 9.8 CTNNB1 FZD4 LRP5 NDP RPGR
5 hearing/vestibular/ear MP:0005377 9.8 CTNNB1 FZD4 LRP6 NDP TSPAN12 WNT3A
6 cardiovascular system MP:0005385 9.77 ATOH7 CTNNB1 FZD4 FZD5 LRP5 NDP
7 vision/eye MP:0005391 9.4 ATOH7 CRYAA CTNNB1 FZD4 FZD5 LRP5
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Drugs & Therapeutics for Exudative Vitreoretinopathy

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bromfenac Approved, Withdrawn Phase 2 91714-94-2 60726
2 Analgesics Phase 2
3 Anti-Inflammatory Agents, Non-Steroidal Phase 2
4 Ophthalmic Solutions Phase 2
5 Analgesics, Non-Narcotic Phase 2
6 Anti-Inflammatory Agents Phase 2
7
Pyrimethamine Approved, Investigational, Vet_approved 58-14-0, 19085-09-7 4993
8
Levoleucovorin Approved, Experimental, Investigational 68538-85-2, 58-05-9, 73951-54-9 149436 6006
9
Sulfadoxine Approved, Investigational 2447-57-6 17134
10
Chloroquine Approved, Investigational, Vet_approved 54-05-7 2719
11
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
12 Antirheumatic Agents
13 Folic Acid Antagonists
14 Amebicides
15 Folate
16 Vitamin B9
17 Anti-Infective Agents
18 Antiprotozoal Agents
19 Antiparasitic Agents
20 Vitamin B Complex
21 Fanasil, pyrimethamine drug combination
22 Antimalarials
23 Chloroquine diphosphate 50-63-5

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Bromfenac Sodium Hydrate Eye Drops in Children With Familial Exudative Vitreoretinopathy After Diode Laser Photocoagulation Not yet recruiting NCT05107921 Phase 2 Bromfenac Sodium
2 Familial Exudative Vitreoretinopathy Clinical and Molecular Studies Completed NCT00106756
3 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

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Genetic Tests for Exudative Vitreoretinopathy

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Genetic tests related to Exudative Vitreoretinopathy:

# Genetic test Affiliating Genes
1 Familial Exudative Vitreoretinopathy 28
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Anatomical Context for Exudative Vitreoretinopathy

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Organs/tissues related to Exudative Vitreoretinopathy:

MalaCards : Retina, Eye, Bone, Endothelial, Cerebellum, Neutrophil, Lung
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Publications for Exudative Vitreoretinopathy

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Articles related to Exudative Vitreoretinopathy:

(show top 50) (show all 555)
# Title Authors PMID Year
1
Symmetry of folds in FEVR: A genotype-phenotype correlation study. 62 5
31299183 2019
2
Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients. 62 5
27316669 2016
3
Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. 62 5
25711638 2015
4
Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy. 62 5
24744206 2014
5
Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy. 62 5
20938005 2010
6
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. 62 5
20340138 2010
7
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. 62 5
15024691 2004
8
Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. 62 5
15035989 2004
9
Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. 62 5
14507768 2003
10
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. 5
16252235 2005
11
Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy. 62
36411543 2022
12
A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy. 62
36453149 2022
13
Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series. 62
36362148 2022
14
Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report. 62
36426739 2022
15
A novel variant in the TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy. 62
34151585 2022
16
Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy. 62
35037517 2022
17
Multimodal Retinal Imaging Findings in Two Cousins With VCAN-Related Vitreoretinopathy or Wagner Disease. 62
36378611 2022
18
PROLIFERATIVE RETINOPATHY IN A 13-YEAR-OLD WITH ADAMS-OLIVER SYNDROME. 62
33323896 2022
19
Familial Mediterranean fever associated frosted branch angiitis, retinal vasculitis and vascular occlusion. 62
34725467 2022
20
Familial exudative vitreoretinopathy (FEVR) in a child with novel microarray-defined deletion of 11q14 previously diagnosed as retinopathy of prematurity (ROP). 62
36444989 2022
21
A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy. 62
36333947 2022
22
Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss-of-function variants. 62
36153650 2022
23
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION. 62
36018796 2022
24
Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report. 62
35880249 2022
25
Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4. 62
35951321 2022
26
Mutation spectrum in a cohort with familial exudative vitreoretinopathy. 62
35876299 2022
27
Familial exudative vitreoretinopathy with total retinal detachment: Treatment for scleral buckling. 62
35953359 2022
28
Coats plus in prematurity. 62
35416114 2022
29
Long-term clinical prognosis of 335 infant single-gene positive FEVR cases. 62
35918671 2022
30
Retinal Manifestations of Walker-Warburg Syndrome in Two Siblings with RXYLT1 Mutations. 62
36007194 2022
31
Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome. 62
35834361 2022
32
Retinal Detachment Present at Birth in an Infant With a Novel CTNNB1 Mutation. 62
35858235 2022
33
Commentary: Familial exudative vitreoretinopathy-The masquerade in pediatric retinal disorders. 62
35791143 2022
34
Management and surgical outcomes of pediatric retinal detachment associated with familial exudative vitreoretinopathy - Our experience at a tertiary care ophthalmic center in North India. 62
35791142 2022
35
CTNND1 variants cause familial exudative vitreoretinopathy through the Wnt/cadherin axis. 62
35700046 2022
36
Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders. 62
35897115 2022
37
Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy. 62
34896607 2022
38
CD146 as a promising therapeutic target for retinal and choroidal neovascularization diseases. 62
34729700 2022
39
Hedgehog Signal Defect Leading to Familial Exudative Vitreoretinopathy-Like Disease and Gastrointestinal Malformation. 62
35770050 2022
40
A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR. 62
35417085 2022
41
Familial exudative vitreoretinopathy in a 4 generations family of South-East Asian Descendent with FZD4 mutation (c.1501_1502del). 62
35578317 2022
42
Heterozygote loss-of-function variants in the LRP5 gene cause familial exudative vitreoretinopathy. 62
35133048 2022
43
Foveal hypoplasia and characteristics of optical components in patients with familial exudative vitreoretinopathy and retinopathy of prematurity. 62
35546162 2022
44
CTNNB1 (β-CATENIN) VITREORETINOPATHY: IMAGING CHARACTERISTICS AND SURGICAL MANAGEMENT. 62
32150115 2022
45
CTNNB1 Neurodevelopmental Disorder 62
35593792 2022
46
Update on the Phenotypic and Genotypic Spectrum of KIF11-Related Retinopathy. 62
35456519 2022
47
FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations. 62
35394490 2022
48
Severe retinal complications in Knobloch Syndrome - Three siblings without clinically apparent occipital defects and a review of the literature. 62
35387550 2022
49
Wide-field Fundus Imaging and Fluorescein Angiography Findings in Various Pseudoretinoblastoma Conditions. 62
35446191 2022
50
Changing trends in pseudoretinoblastoma diagnoses: A 10 year review from the United Kingdom. 62
35484797 2022
Sources

Variations for Exudative Vitreoretinopathy

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ClinVar genetic disease variations for Exudative Vitreoretinopathy:

5 (show all 29)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZNF408 NM_024741.3(ZNF408):c.1697T>A (p.Leu566His) SNV Pathogenic
 812466 rs1425566595 GRCh37: 11:46726947-46726947
GRCh38: 11:46705397-46705397
2 FZD4, PRSS23 NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs) MICROSAT Pathogenic
 224625 rs80358295 GRCh37: 11:86662513-86662516
GRCh38: 11:86951471-86951474
3 LRP5 NM_002335.4(LRP5):c.4488+2T>G SNV Pathogenic
 6287 rs80358322 GRCh37: 11:68207386-68207386
GRCh38: 11:68439918-68439918
4 FZD4, PRSS23 NM_012193.4(FZD4):c.313A>G (p.Met105Val) SNV Pathogenic
Pathogenic
 224624 rs80358284 GRCh37: 11:86663485-86663485
GRCh38: 11:86952443-86952443
5 LRP5 NM_002335.4(LRP5):c.3763+2T>C SNV Likely Pathogenic
 1722379 GRCh37: 11:68197170-68197170
GRCh38: 11:68429702-68429702
6 FZD4, PRSS23 NM_012193.4(FZD4):c.349T>C (p.Cys117Arg) SNV Likely Pathogenic
 812323 rs759432455 GRCh37: 11:86663449-86663449
GRCh38: 11:86952407-86952407
7 TSPAN12 NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe) SNV Likely Pathogenic
 236067 rs878853243 GRCh37: 7:120446673-120446673
GRCh38: 7:120806619-120806619
8 ZNF408 NM_024741.3(ZNF408):c.1174T>C (p.Ser392Pro) SNV Likely Pathogenic
 812465 rs966073464 GRCh37: 11:46726424-46726424
GRCh38: 11:46704874-46704874
9 RCBTB1 NM_018191.4(RCBTB1):c.1172+1G>A SNV Likely Pathogenic
 224621 rs869312819 GRCh37: 13:50118872-50118872
GRCh38: 13:49544736-49544736
10 LRP5 NM_002335.4(LRP5):c.1265C>T (p.Ala422Val) SNV Likely Pathogenic
 437991 rs761919591 GRCh37: 11:68154033-68154033
GRCh38: 11:68386565-68386565
11 TSPAN12 NM_012338.4(TSPAN12):c.225_227del (p.Ile76del) DEL Likely Pathogenic
 437962 rs1171910750 GRCh37: 7:120478889-120478891
GRCh38: 7:120838835-120838837
12 LRP5 NM_002335.4(LRP5):c.3242T>G (p.Leu1081Arg) SNV Likely Pathogenic
 437992 rs1308485193 GRCh37: 11:68192575-68192575
GRCh38: 11:68425107-68425107
13 FZD4, PRSS23 NM_012193.4(FZD4):c.*2956_*2960delinsAGTTAAAAGC INDEL Uncertain Significance
 306366 rs386755834 GRCh37: 11:86659224-86659228
GRCh38: 11:86948182-86948186
14 FZD4, PRSS23 NM_012193.4(FZD4):c.*3909TTTG[7] MICROSAT Uncertain Significance
 306349 rs34325935 GRCh37: 11:86658244-86658247
GRCh38: 11:86947202-86947205
15 FZD4, PRSS23 NM_012193.4(FZD4):c.*3909TTTG[5] MICROSAT Uncertain Significance
 306351 rs34325935 GRCh37: 11:86658244-86658255
GRCh38: 11:86947202-86947213
16 FZD4, PRSS23 NM_012193.4(FZD4):c.*3909TTTG[9] MICROSAT Uncertain Significance
 306348 rs34325935 GRCh37: 11:86658243-86658244
GRCh38: 11:86947201-86947202
17 FZD4, PRSS23 NM_012193.4(FZD4):c.*3909TTTG[6] MICROSAT Uncertain Significance
 306350 rs34325935 GRCh37: 11:86658244-86658251
GRCh38: 11:86947202-86947209
18 TSPAN12 NM_012338.4(TSPAN12):c.-245dup DUP Uncertain Significance
 358768 rs886061961 GRCh37: 7:120498047-120498048
GRCh38: 7:120857993-120857994
19 FZD4, PRSS23 NM_012193.4(FZD4):c.*5250del DEL Uncertain Significance
 306328 rs886048715 GRCh37: 11:86656934-86656934
GRCh38: 11:86945892-86945892
20 TSPAN12 NM_012338.4(TSPAN12):c.-251del DEL Uncertain Significance
 358771 rs561967326 GRCh37: 7:120498054-120498054
GRCh38: 7:120858000-120858000
21 FZD4, PRSS23 NM_012193.4(FZD4):c.*3060del DEL Uncertain Significance
 306363 rs372319612 GRCh37: 11:86659124-86659124
GRCh38: 11:86948082-86948082
22 FZD4, PRSS23 NM_012193.4(FZD4):c.*3909TTTG[4] MICROSAT Uncertain Significance
 306352 rs34325935 GRCh37: 11:86658244-86658259
GRCh38: 11:86947202-86947217
23 TSPAN12 NM_012338.4(TSPAN12):c.-251dup DUP Uncertain Significance
 358770 rs561967326 GRCh37: 7:120498053-120498054
GRCh38: 7:120857999-120858000
24 NDP-AS1, NDP NM_000266.4(NDP):c.-77A>G SNV Uncertain Significance
 224623 rs869312820 GRCh37: X:43817968-43817968
GRCh38: X:43958722-43958722
25 TSPAN12 NM_012338.4(TSPAN12):c.469-12dup DUP Likely Benign
 198551 rs34396874 GRCh37: 7:120446750-120446751
GRCh38: 7:120806696-120806697
26 FZD4, PRSS23 NM_012193.4(FZD4):c.*2747dup DUP Likely Benign
 306369 rs562042557 GRCh37: 11:86659436-86659437
GRCh38: 11:86948394-86948395
27 TSPAN12 NM_012338.4(TSPAN12):c.*1067_*1068del DEL Likely Benign
 358754 rs570865840 GRCh37: 7:120427578-120427579
GRCh38: 7:120787524-120787525
28 FZD4, PRSS23 NM_012193.4(FZD4):c.*5282_*5283del DEL Likely Benign
 306327 rs371128840 GRCh37: 11:86656901-86656902
GRCh38: 11:86945859-86945860
29 FZD4 NM_012193.4(FZD4):c.40_49del (p.Pro14fs) MICROSAT Not Provided
 441133 rs1555086007 GRCh37: 11:86666079-86666088
GRCh38: 11:86955037-86955046
Sources

Expression for Exudative Vitreoretinopathy

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

Pathways for Exudative Vitreoretinopathy

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

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Nanog in Mammalian ESC Pluripotency 64
Show member pathways
 13.16 WNT7B WNT7A WNT3A FZD5 FZD4 CTNNB1
2
Signaling by WNT 66
Show member pathways
 12.89 WNT7B WNT7A WNT3A LRP6 LRP5 FZD5
3
Alzheimer's disease and miRNA effects 74
Show member pathways
 12.85 WNT7B WNT7A WNT3A LRP6 LRP5 FZD5
4
ncRNAs involved in Wnt signaling in hepatocellular carcinoma 74
Show member pathways
 12.84 CTNNB1 FZD4 FZD5 LRP5 LRP6 WNT3A
5
Malignant pleural mesothelioma 74
12.67 CTNNB1 FZD5 LRP5 LRP6 PRSS23 WNT3A
6
Human Embryonic Stem Cell Pluripotency 64
Show member pathways
 12.49 WNT7B WNT7A WNT3A FZD5 FZD4 CTNNB1
7
CTNNB1 S33 mutants aren't phosphorylated 66
Show member pathways
 12.48 CTNNB1 FZD4 FZD5 LRP5 LRP6 WNT3A
8
Presynaptic function of Kainate receptors 66
Show member pathways
 12.42 WNT7B WNT7A WNT3A FZD5 FZD4
9
WNT Signaling 64
12.4 WNT7B WNT7A WNT3A LRP6 LRP5 FZD5
10
Breast cancer pathway 74
Show member pathways
 12.4 CTNNB1 FZD4 FZD5 LRP5 LRP6 WNT3A
11
Wnt / Hedgehog / Notch 3
12.26 WNT3A LRP6 LRP5 FZD5 CTNNB1
12
Transcription Androgen Receptor nuclear signaling 22
Show member pathways
 12.14 WNT7B WNT7A WNT3A FZD5 FZD4 CTNNB1
13
Presenilin-Mediated Signaling 64
12.11 WNT7B WNT7A WNT3A FZD5 FZD4 CTNNB1
14
MicroRNAs in cardiomyocyte hypertrophy 74
Show member pathways
 12.09 CTNNB1 LRP5 LRP6 WNT3A
15
mTOR Signaling 65
12.01 WNT7B WNT7A WNT3A LRP6 LRP5 FZD5
16
Reelin Pathway (Cajal-Retzius cells) 64
11.99 CTNNB1 FZD4 FZD5 LRP5 LRP6
17
Colorectal Cancer Metastasis 64
11.98 CTNNB1 FZD4 FZD5 LRP5 LRP6 WNT3A
18
Ectoderm differentiation 74
11.97 FZD5 FZD4 CTNNB1
19
DNA damage response (only ATM dependent) 74
11.92 WNT7B WNT7A WNT3A CTNNB1
20
G12-G13 in Cellular Signaling 64
11.91 FZD5 FZD4 CTNNB1
21
Epithelial to mesenchymal transition in colorectal cancer 74
11.76 WNT7B WNT7A WNT3A LRP6 LRP5 FZD5
23
Primary focal segmental glomerulosclerosis (FSGS) 74
11.67 LRP6 LRP5 CTNNB1
24
Physico-chemical features and toxicity-associated pathways 74
11.62 FZD5 FZD4 CTNNB1
25
Canonical Wnt Pathway 67
11.57 WNT7B WNT7A WNT3A CTNNB1
26
Non-Canonical Wnt Pathway 67
11.5 WNT7B WNT7A WNT3A FZD5 FZD4 CTNNB1
27
Degradation of beta catenin 61
Show member pathways
 11.31 WNT3A LRP6 FZD5 CTNNB1
28
Regulation of FZD by ubiquitination 66
Show member pathways
 11.29 WNT3A LRP6 LRP5 FZD5 FZD4
29
Wnt Pathway 70
Show member pathways
 11.29 WNT7B WNT7A WNT3A LRP6 LRP5 FZD5
30
Negative regulation of TCF-dependent signaling by WNT ligand antagonists 66
Show member pathways
 11.1 WNT3A LRP6 LRP5
Sources

GO Terms for Exudative Vitreoretinopathy

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 10 WNT7A WNT3A PLVAP NDP LRP6 FZD5
2 endocytic vesicle membrane GO:0030666 9.73 WNT7B WNT7A WNT3A
3 Wnt signalosome GO:1990909 9.43 LRP6 LRP5 CTNNB1
4 Wnt-Frizzled-LRP5/6 complex GO:1990851 9.1 WNT3A LRP6 LRP5

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.55 ATOH7 CTNNB1 FZD5 LRP5 LRP6 WNT3A
2 positive regulation of DNA-templated transcription GO:0045893 10.44 CTNNB1 FZD4 LRP5 LRP6 NDP WNT3A
3 cellular response to retinoic acid GO:0071300 10.13 WNT7B WNT3A FZD4
4 cell fate commitment GO:0045165 10.12 WNT7B WNT7A WNT3A
5 embryonic digit morphogenesis GO:0042733 10.09 WNT7A LRP5 CTNNB1
6 synapse organization GO:0050808 10.03 WNT7B WNT7A CTNNB1
7 positive regulation of DNA-binding transcription factor activity GO:0051091 10.03 CTNNB1 FZD4 LRP5 LRP6 NDP WNT3A
8 neuron differentiation GO:0030182 9.97 WNT7B WNT7A WNT3A FZD5 FZD4 CTNNB1
9 negative regulation of neurogenesis GO:0050768 9.95 WNT7A WNT3A CTNNB1
10 somatic stem cell division GO:0048103 9.94 WNT7A WNT3A
11 cell proliferation in forebrain GO:0021846 9.93 WNT7A WNT3A
12 embryonic axis specification GO:0000578 9.93 WNT7A FZD5 CTNNB1
13 lens fiber cell development GO:0070307 9.92 WNT7B WNT7A
14 midbrain dopaminergic neuron differentiation GO:1904948 9.92 CTNNB1 LRP6
15 positive regulation of skeletal muscle tissue development GO:0048643 9.91 WNT3A CTNNB1
16 Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904953 9.88 WNT3A LRP6
17 retinal blood vessel morphogenesis GO:0061304 9.88 LRP5 FZD4
18 extracellular matrix-cell signaling GO:0035426 9.88 NDP LRP5 FZD4
19 metanephros morphogenesis GO:0003338 9.87 WNT7B CTNNB1
20 oviduct development GO:0060066 9.86 WNT7A CTNNB1
21 central nervous system vasculogenesis GO:0022009 9.85 WNT7B WNT7A CTNNB1
22 multicellular organism development GO:0007275 9.83 WNT7B WNT7A WNT3A
23 renal outer medulla development GO:0072054 9.83 WNT7B CTNNB1
24 retina vasculature morphogenesis in camera-type eye GO:0061299 9.83 FZD4 LRP5 NDP
25 renal inner medulla development GO:0072053 9.81 WNT7B CTNNB1
26 non-canonical Wnt signaling pathway GO:0035567 9.8 WNT7A FZD5 FZD4
27 Norrin signaling pathway GO:0110135 9.8 NDP LRP5 FZD4
28 regulation of cell differentiation GO:0045595 9.77 ZFPM1 WNT3A CTNNB1
29 Wnt signaling pathway GO:0016055 9.77 CTNNB1 FZD4 FZD5 LRP5 LRP6 NDP
30 vasculature development GO:0001944 9.71 CTNNB1 FZD5 LRP5
31 system development GO:0048731 9.65 ZFPM1 WNT7B WNT7A
32 canonical Wnt signaling pathway GO:0060070 9.53 WNT7B WNT7A WNT3A LRP6 LRP5 FZD5

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

# Name GO ID Score Top Affiliating Genes
1 receptor ligand activity GO:0048018 9.88 WNT7B WNT7A WNT3A
2 Wnt-protein binding GO:0017147 9.76 FZD4 FZD5 LRP5 LRP6
3 frizzled binding GO:0005109 9.65 WNT7B WNT7A WNT3A NDP LRP6
4 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 9.62 LRP6 LRP5
5 coreceptor activity involved in Wnt signaling pathway GO:0071936 9.56 LRP6 LRP5
6 toxin transmembrane transporter activity GO:0019534 9.54 LRP6 LRP5
7 Wnt receptor activity GO:0042813 9.28 TSPAN12 LRP6 LRP5 FZD5 FZD4
Sources

Sources for Exudative Vitreoretinopathy

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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