MCID: EXD001
MIFTS: 50

Exudative Vitreoretinopathy

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

Aliases & Classifications for Exudative Vitreoretinopathy

MalaCards integrated aliases for Exudative Vitreoretinopathy:

Name: Exudative Vitreoretinopathy 12 29 13 15 73
Familial Exudative Vitreoretinopathy 12 53 25 59 29 6
Fevr 12 53 25 59
Criswick-Schepens Syndrome 53 59
Exudative Vitreoretinopathy, Familial 53
Exudative Vitreoretinopathy 1 73
Vitreoretinopathy, Exudative 40

Characteristics:

Orphanet epidemiological data:

59
familial exudative vitreoretinopathy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050535
ICD10 33 H35.00
ICD9CM 35 362.10
Orphanet 59 ORPHA891
ICD10 via Orphanet 34 H35.0
MESH via Orphanet 45 C536382
UMLS via Orphanet 74 C0339539 C1851402

Summaries for Exudative Vitreoretinopathy

NIH Rare Diseases : 53 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.

MalaCards based summary : Exudative Vitreoretinopathy, also known as familial exudative vitreoretinopathy, is related to exudative vitreoretinopathy 1 and norrie disease. 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 Aldosterone synthesis and secretion. Affiliated tissues include retina, eye and testes, and related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

Genetics Home Reference : 25 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.

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.

Wikipedia : 76 Familial exudative vitreoretinopathy (FEVR) (/ˈfiːvər/ FEE-vər) 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 all 39)
# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 1 33.3 ARHGAP1 CTNNB1 FZD4 LRP5 NDP PRSS23
2 norrie disease 31.1 FZD4 LRP5 NDP TSPAN12
3 persistent hyperplastic primary vitreous, autosomal recessive 30.6 ATOH7 TSPAN12
4 coats disease 30.5 FZD4 LRP5 NDP RCBTB1 TSPAN12
5 retinal detachment 30.4 ATOH7 CTNNB1 FZD4 LRP5 NDP TSPAN12
6 osteoporosis-pseudoglioma syndrome 30.3 CTNNB1 FZD4 LRP5 NDP
7 persistent hyperplastic primary vitreous 30.2 ATOH7 FZD4 NDP TSPAN12
8 exudative vitreoretinopathy 2, x-linked 12.6
9 exudative vitreoretinopathy 4 12.5
10 exudative vitreoretinopathy 5 12.5
11 exudative vitreoretinopathy 3 12.5
12 exudative vitreoretinopathy 6 12.4
13 exudative vitreoretinopathy 7 12.4
14 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.1
15 retinitis 10.6
16 leukocoria 10.4 FZD4 LRP5 NDP
17 retinal telangiectasia 10.3 FZD4 NDP RCBTB1 TSPAN12
18 retinal vascular disease 10.2 FZD4 LRP5 NDP TSPAN12 ZNF408
19 craniodiaphyseal dysplasia 10.2 CTNNB1 LRP5
20 macular holes 10.1
21 osteoporosis 10.1
22 digeorge syndrome 10.1
23 microcephaly 10.1
24 choroiditis 10.1
25 myopia 10.1
26 dyskeratosis congenita 10.1
27 chorioretinitis 10.1
28 glaucoma, primary open angle 9.9
29 cutis marmorata telangiectatica congenita 9.9
30 cystic fibrosis 9.9
31 astigmatism 9.9
32 cataract 9.9
33 lymphedema 9.9
34 spinal muscular atrophy 9.9
35 cone dystrophy 9.9
36 open-angle glaucoma 9.9
37 anisometropia 9.9
38 chronic closed-angle glaucoma 9.9
39 muscular atrophy 9.9

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 Decreased substrate adherent cell growth GR00193-A-3 8.92 CAMK2G FZD1 FZD7
2 Decreased substrate adherent cell growth GR00193-A-4 8.92 CAMK2G

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 ATOH7 CTNNB1 FZD1 FZD4 FZD5 FZD7
2 embryo MP:0005380 10.02 ARHGAP1 CTNNB1 FZD1 FZD4 FZD5 FZD6
3 nervous system MP:0003631 10 ARHGAP1 ATOH7 CTNNB1 FZD1 FZD4 FZD5
4 hearing/vestibular/ear MP:0005377 9.8 FZD1 FZD4 FZD6 NDP TSPAN12 CTNNB1
5 pigmentation MP:0001186 9.63 CTNNB1 FZD1 FZD4 FZD7 LRP5 NDP
6 reproductive system MP:0005389 9.61 ARHGAP1 ATOH7 CAMK2G CTNNB1 FZD1 FZD4
7 vision/eye MP:0005391 9.23 ATOH7 CTNNB1 FZD4 FZD5 FZD6 LRP5

Drugs & Therapeutics for Exudative Vitreoretinopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Genetic Studies of Familial Exudative Vitreoretinopathy Completed NCT00106756

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
2 Exudative Vitreoretinopathy 29

Anatomical Context for Exudative Vitreoretinopathy

MalaCards organs/tissues related to Exudative Vitreoretinopathy:

41
Retina, Eye, Testes

Publications for Exudative Vitreoretinopathy

Articles related to Exudative Vitreoretinopathy:

(show top 50) (show all 200)
# Title Authors Year
1
The role of intravitreal ranubizumab in the treatment of familial exudative vitreoretinopathy of stage 2 or greater. ( 29977810 )
2018
2
Familial Exudative Vitreoretinopathy: Pathophysiology, Diagnosis, and Management. ( 29633588 )
2018
3
A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion. ( 29617172 )
2018
4
Mirror image of familial exudative vitreoretinopathy in identical twins. ( 29492729 )
2018
5
Surgical treatments for fibrous tissue extending to the posterior retina in eyes with familial exudative vitreoretinopathy. ( 29101498 )
2018
6
Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy. ( 29207047 )
2018
7
25-gauge lens-sparing vitrectomy with dissection of retrolental adhesions on the peripheral retina for familial exudative vitreoretinopathy in infants. ( 29907944 )
2018
8
Familial Exudative Vitreoretinopathy and Glaucoma: Observations, Insights, and Management Strategies. ( 29088053 )
2018
9
Familial exudative vitreoretinopathy complicated with full thickness macular hole: A case report. ( 29879073 )
2018
10
Familial Exudative Vitreoretinopathy. ( 28418565 )
2017
11
LONGITUDINAL CHANGES IN THE OPTIC NERVE HEAD AND RETINA OVER TIME IN VERY YOUNG CHILDREN WITH FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 29190238 )
2017
12
Familial exudative vitreoretinopathy presentation as persistent fetal vasculature. ( 28413837 )
2017
13
Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy. ( 28867931 )
2017
14
RETINAL VASCULAR TORTUOSITY AND EXUDATIVE RETINOPATHY IN A FAMILY WITH DYSKERATOSIS CONGENITA MASQUERADING AS FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 27685501 )
2017
15
Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy. ( 28758032 )
2017
16
Risk allele of the FZD4 gene for familial exudative vitreoretinopathy. ( 29135315 )
2017
17
Exudative Vitreoretinopathy in Dyskeratosis Congenita. ( 28734336 )
2017
18
Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy. ( 29181528 )
2017
19
Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12. ( 28211206 )
2017
20
MACULAR HOLE IN A YOUNG PATIENT AFFECTED BY FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 28850050 )
2017
21
Identification of LRP5 mutations in families with familial exudative vitreoretinopathy. ( 28420620 )
2017
22
Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy. ( 28494495 )
2017
23
Electroretinographic effects of retinal dragging and retinal folds in eyes with familial exudative vitreoretinopathy. ( 27456314 )
2016
24
Anatomical and functional outcomes following vitrectomy for advanced familial exudative vitreoretinopathy: a single surgeon's experience. ( 27793819 )
2016
25
DISTINCTIVE WHITE FUNDUS LESIONS IN FAMILIAL EXUDATIVE VITREORETINOPATHY: A NEWLY CHARACTERIZED CLINICAL FEATURE. ( 27648585 )
2016
26
Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy. ( 27228167 )
2016
27
A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy. ( 27720678 )
2016
28
Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR). ( 28002565 )
2016
29
Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected using FZD4 molecular analysis. ( 27746066 )
2016
30
Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. ( 26908610 )
2016
31
Retinopathy of Prematurity Versus Familial Exudative Vitreoretinopathy: Report on Clinical and Angiographic Findings. ( 26731204 )
2016
32
INCREASED POSTERIOR RETINAL VESSELS IN MILD ASYMPTOMATIC FAMILIAL EXUDATIVE VITREORETINOPATHY EYES. ( 26655609 )
2016
33
Mutations in ATOH7 gene in patients with nonsyndromic congenital retinal nonattachment and familial exudative vitreoretinopathy. ( 26933893 )
2016
34
Ultra-wide-field scanning laser ophthalmoscopy assists in the clinical detection and evaluation of asymptomatic early-stage familial exudative vitreoretinopathy. ( 27416933 )
2016
35
Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis. ( 27212378 )
2016
36
CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype. ( 26967979 )
2016
37
Pharmacologic Activation of Wnt Signaling by Lithium Normalizes Retinal Vasculature in a Murine Model of Familial Exudative Vitreoretinopathy. ( 27524797 )
2016
38
SURGICAL MANAGEMENT OF ADVANCED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH COMPLICATIONS. ( 26807630 )
2016
39
A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy. ( 27668459 )
2016
40
Re: Yonekawa etA al.: Familial exudative vitreoretinopathy: spectral-domain optical coherence tomography of the vitreoretinal interface, retina, and choroid (Ophthalmology 2015;122:2270-7). ( 27107366 )
2016
41
Simultaneous Novel Mutations of LRP5 and TSPAN12 in a Case of Familial Exudative Vitreoretinopathy. ( 27007396 )
2016
42
Novel mutations in FZD4 and phenotype-genotype correlation in Chinese patients with familial exudative vitreoretinopathy. ( 27555740 )
2016
43
Familial Exudative Vitreoretinopathy With a Novel LRP5 Mutation. ( 27486893 )
2016
44
Familial Exudative Vitreoretinopathy. ( 27800225 )
2015
45
Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy. ( 26244290 )
2015
46
Association of autosomal dominant familial exudative vitreoretinopathy and spinal muscular atrophy. ( 26109022 )
2015
47
KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy. ( 26472404 )
2015
48
A case of familial exudative vitreoretinopathy identified after genetic testing. ( 25828824 )
2015
49
Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy. ( 26530129 )
2015
50
Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. ( 25711638 )
2015

Variations for Exudative Vitreoretinopathy

ClinVar genetic disease variations for Exudative Vitreoretinopathy:

6
(show top 50) (show all 248)
# Gene Variation Type Significance SNP ID Assembly Location
1 LRP5 NM_002335.3(LRP5): c.4488+2T> G single nucleotide variant Pathogenic rs80358322 GRCh37 Chromosome 11, 68207386: 68207386
2 LRP5 NM_002335.3(LRP5): c.4488+2T> G single nucleotide variant Pathogenic rs80358322 GRCh38 Chromosome 11, 68439918: 68439918
3 FZD4 NM_012193.3(FZD4): c.97C> T (p.Pro33Ser) single nucleotide variant Benign/Likely benign rs61735304 GRCh37 Chromosome 11, 86666031: 86666031
4 FZD4 NM_012193.3(FZD4): c.97C> T (p.Pro33Ser) single nucleotide variant Benign/Likely benign rs61735304 GRCh38 Chromosome 11, 86954989: 86954989
5 TSPAN12 NM_012338.3(TSPAN12): c.469-5dupT duplication Benign/Likely benign rs34396874 GRCh37 Chromosome 7, 120446751: 120446751
6 TSPAN12 NM_012338.3(TSPAN12): c.469-5dupT duplication Benign/Likely benign rs34396874 GRCh38 Chromosome 7, 120806697: 120806697
7 FZD4 NM_012193.3(FZD4): c.1282_1285delGACA (p.Asp428Serfs) deletion Pathogenic rs80358295 GRCh37 Chromosome 11, 86662513: 86662516
8 FZD4 NM_012193.3(FZD4): c.1282_1285delGACA (p.Asp428Serfs) deletion Pathogenic rs80358295 GRCh38 Chromosome 11, 86951471: 86951474
9 FZD4 NM_012193.3(FZD4): c.313A> G (p.Met105Val) single nucleotide variant Pathogenic rs80358284 GRCh38 Chromosome 11, 86952443: 86952443
10 FZD4 NM_012193.3(FZD4): c.313A> G (p.Met105Val) single nucleotide variant Pathogenic rs80358284 GRCh37 Chromosome 11, 86663485: 86663485
11 RCBTB1 NM_018191.3(RCBTB1): c.1172+1G> A single nucleotide variant Likely pathogenic rs869312819 GRCh37 Chromosome 13, 50118872: 50118872
12 RCBTB1 NM_018191.3(RCBTB1): c.1172+1G> A single nucleotide variant Likely pathogenic rs869312819 GRCh38 Chromosome 13, 49544736: 49544736
13 NDP NM_000266.3(NDP): c.-77A> G single nucleotide variant Uncertain significance rs869312820 GRCh37 Chromosome X, 43817968: 43817968
14 NDP NM_000266.3(NDP): c.-77A> G single nucleotide variant Uncertain significance rs869312820 GRCh38 Chromosome X, 43958722: 43958722
15 TSPAN12 NM_012338.3(TSPAN12): c.765G> T (p.Pro255=) single nucleotide variant Benign rs41623 GRCh37 Chromosome 7, 120428799: 120428799
16 TSPAN12 NM_012338.3(TSPAN12): c.765G> T (p.Pro255=) single nucleotide variant Benign rs41623 GRCh38 Chromosome 7, 120788745: 120788745
17 TSPAN12 NM_012338.3(TSPAN12): c.*553C> G single nucleotide variant Uncertain significance rs886061956 GRCh37 Chromosome 7, 120428093: 120428093
18 TSPAN12 NM_012338.3(TSPAN12): c.*553C> G single nucleotide variant Uncertain significance rs886061956 GRCh38 Chromosome 7, 120788039: 120788039
19 TSPAN12 NM_012338.3(TSPAN12): c.*40T> C single nucleotide variant Uncertain significance rs375824224 GRCh37 Chromosome 7, 120428606: 120428606
20 TSPAN12 NM_012338.3(TSPAN12): c.*40T> C single nucleotide variant Uncertain significance rs375824224 GRCh38 Chromosome 7, 120788552: 120788552
21 TSPAN12 NM_012338.3(TSPAN12): c.304G> T (p.Val102Phe) single nucleotide variant Uncertain significance rs777946907 GRCh37 Chromosome 7, 120455839: 120455839
22 TSPAN12 NM_012338.3(TSPAN12): c.304G> T (p.Val102Phe) single nucleotide variant Uncertain significance rs777946907 GRCh38 Chromosome 7, 120815785: 120815785
23 TSPAN12 NM_012338.3(TSPAN12): c.*1243A> T single nucleotide variant Likely benign rs189221112 GRCh37 Chromosome 7, 120427403: 120427403
24 TSPAN12 NM_012338.3(TSPAN12): c.*1243A> T single nucleotide variant Likely benign rs189221112 GRCh38 Chromosome 7, 120787349: 120787349
25 TSPAN12 NM_012338.3(TSPAN12): c.*1067_*1068delAT deletion Likely benign rs570865840 GRCh37 Chromosome 7, 120427578: 120427579
26 TSPAN12 NM_012338.3(TSPAN12): c.*1067_*1068delAT deletion Likely benign rs570865840 GRCh38 Chromosome 7, 120787524: 120787525
27 TSPAN12 NM_012338.3(TSPAN12): c.*103C> A single nucleotide variant Uncertain significance rs886061957 GRCh37 Chromosome 7, 120428543: 120428543
28 TSPAN12 NM_012338.3(TSPAN12): c.*103C> A single nucleotide variant Uncertain significance rs886061957 GRCh38 Chromosome 7, 120788489: 120788489
29 TSPAN12 NM_012338.3(TSPAN12): c.*39C> T single nucleotide variant Benign rs41622 GRCh37 Chromosome 7, 120428607: 120428607
30 TSPAN12 NM_012338.3(TSPAN12): c.*39C> T single nucleotide variant Benign rs41622 GRCh38 Chromosome 7, 120788553: 120788553
31 TSPAN12 NM_012338.3(TSPAN12): c.367G> C (p.Val123Leu) single nucleotide variant Likely benign rs145676655 GRCh37 Chromosome 7, 120450618: 120450618
32 TSPAN12 NM_012338.3(TSPAN12): c.367G> C (p.Val123Leu) single nucleotide variant Likely benign rs145676655 GRCh38 Chromosome 7, 120810564: 120810564
33 TSPAN12 NM_012338.3(TSPAN12): c.-102G> A single nucleotide variant Uncertain significance rs886061959 GRCh37 Chromosome 7, 120497905: 120497905
34 TSPAN12 NM_012338.3(TSPAN12): c.-102G> A single nucleotide variant Uncertain significance rs886061959 GRCh38 Chromosome 7, 120857851: 120857851
35 TSPAN12 NM_012338.3(TSPAN12): c.-246T> G single nucleotide variant Uncertain significance rs545477642 GRCh37 Chromosome 7, 120498049: 120498049
36 TSPAN12 NM_012338.3(TSPAN12): c.-246T> G single nucleotide variant Uncertain significance rs545477642 GRCh38 Chromosome 7, 120857995: 120857995
37 TSPAN12 NM_012338.3(TSPAN12): c.-251delT deletion Uncertain significance rs886061962 GRCh37 Chromosome 7, 120498054: 120498054
38 TSPAN12 NM_012338.3(TSPAN12): c.-251delT deletion Uncertain significance rs886061962 GRCh38 Chromosome 7, 120858000: 120858000
39 TSPAN12 NM_012338.3(TSPAN12): c.-251dupT duplication Uncertain significance rs561967326 GRCh37 Chromosome 7, 120498054: 120498054
40 TSPAN12 NM_012338.3(TSPAN12): c.-251dupT duplication Uncertain significance rs561967326 GRCh38 Chromosome 7, 120858000: 120858000
41 TSPAN12 NM_012338.3(TSPAN12): c.*1139A> T single nucleotide variant Likely benign rs192303288 GRCh38 Chromosome 7, 120787453: 120787453
42 TSPAN12 NM_012338.3(TSPAN12): c.*1139A> T single nucleotide variant Likely benign rs192303288 GRCh37 Chromosome 7, 120427507: 120427507
43 TSPAN12 NM_012338.3(TSPAN12): c.*334A> T single nucleotide variant Likely benign rs545129654 GRCh37 Chromosome 7, 120428312: 120428312
44 TSPAN12 NM_012338.3(TSPAN12): c.*334A> T single nucleotide variant Likely benign rs545129654 GRCh38 Chromosome 7, 120788258: 120788258
45 TSPAN12 NM_012338.3(TSPAN12): c.-43G> A single nucleotide variant Uncertain significance rs377745738 GRCh37 Chromosome 7, 120496860: 120496860
46 TSPAN12 NM_012338.3(TSPAN12): c.-43G> A single nucleotide variant Uncertain significance rs377745738 GRCh38 Chromosome 7, 120856806: 120856806
47 TSPAN12 NM_012338.3(TSPAN12): c.-314G> T single nucleotide variant Uncertain significance rs886061963 GRCh37 Chromosome 7, 120498117: 120498117
48 TSPAN12 NM_012338.3(TSPAN12): c.-314G> T single nucleotide variant Uncertain significance rs886061963 GRCh38 Chromosome 7, 120858063: 120858063
49 TSPAN12 NM_012338.3(TSPAN12): c.*1270T> G single nucleotide variant Likely benign rs147549883 GRCh37 Chromosome 7, 120427376: 120427376
50 TSPAN12 NM_012338.3(TSPAN12): c.*1270T> G single nucleotide variant Likely benign rs147549883 GRCh38 Chromosome 7, 120787322: 120787322

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 GeneCards Suite gene sharing:

(show all 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.25 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
2
Show member pathways
13.07 CAMK2G CTNNB1 FZD1 FZD4 FZD5 FZD6
3
Show member pathways
13.01 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
4
Show member pathways
12.93 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
5 12.93 CAMK2G CTNNB1 FZD1 FZD4 FZD5 FZD6
6
Show member pathways
12.85 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
7
Show member pathways
12.78 CAMK2G FZD1 FZD4 FZD5 FZD9
8
Show member pathways
12.6 FZD1 FZD4 FZD5 FZD6 FZD7 FZD9
9
Show member pathways
12.59 CTNNB1 FZD1 FZD4 FZD5 FZD6 LRP5
10
Show member pathways
12.57 CAMK2G CTNNB1 FZD1 FZD4 FZD5 FZD6
11
Show member pathways
12.56 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
12 12.52 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
13
Show member pathways
12.48 FZD1 FZD4 FZD5 FZD6 FZD7 FZD9
14 12.34 CAMK2G CTNNB1 FZD1 FZD4 FZD5 FZD6
15 12.28 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
16
Show member pathways
12.24 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
17 12.22 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
18 12.21 CTNNB1 FZD5 FZD6 LRP5
19 12.2 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
20 12.19 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
21 12.11 FZD1 FZD4 FZD5 FZD9
22
Show member pathways
12.1 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
23 12.07 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
24
Show member pathways
12.04 CAMK2G CTNNB1 FZD1 FZD4 FZD5 FZD6
25 12 CTNNB1 FZD4 FZD5
26 11.85 ARHGAP1 CTNNB1 FZD1 FZD4 FZD5 FZD6
27 11.75 CAMK2G CTNNB1 FZD1 FZD4 FZD5 FZD9
28 11.72 FZD1 FZD4 FZD5 FZD9
29 11.63 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
30
Show member pathways
11.39 FZD4 FZD5 FZD6 LRP5
31 11.34 CAMK2G CTNNB1 LRP5
32 11.29 ARHGAP1 CTNNB1 FZD1 FZD4 FZD5 FZD6
33 11.2 CTNNB1 FZD6 LRP5
34 11.06 CTNNB1 FZD1 FZD7
35 10.61 FZD1 FZD4 FZD5 FZD6 FZD7 FZD9

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 cell surface GO:0009986 9.43 FZD1 FZD4 FZD5 FZD6 FZD9 NDP
2 amyloid-beta complex GO:0106003 9.16 FZD4 FZD5
3 Wnt signalosome GO:1990909 8.8 CTNNB1 FZD1 LRP5

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 neuron differentiation GO:0030182 9.89 CTNNB1 FZD1 FZD4 FZD5 FZD7
2 positive regulation of DNA binding transcription factor activity GO:0051091 9.88 CTNNB1 FZD1 FZD4 LRP5 NDP
3 Wnt signaling pathway GO:0016055 9.81 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
4 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.8 FZD1 FZD4 FZD5 FZD6 FZD7
5 cell surface receptor signaling pathway GO:0007166 9.8 FZD1 FZD4 FZD5 FZD6 FZD7 FZD9
6 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.73 CTNNB1 FZD4 FZD5 FZD6
7 regulation of canonical Wnt signaling pathway GO:0060828 9.72 FZD5 FZD7 LRP5
8 T cell differentiation in thymus GO:0033077 9.71 CTNNB1 FZD5 FZD7
9 vasculature development GO:0001944 9.7 CTNNB1 FZD5 LRP5
10 retina vasculature morphogenesis in camera-type eye GO:0061299 9.63 FZD4 LRP5 NDP
11 gastrulation with mouth forming second GO:0001702 9.62 CTNNB1 LRP5
12 beta-catenin destruction complex disassembly GO:1904886 9.62 CTNNB1 FZD1 FZD5 LRP5
13 negative regulation of cell-substrate adhesion GO:0010812 9.61 FZD4 FZD7
14 negative regulation of oxidative stress-induced neuron death GO:1903204 9.6 CTNNB1 FZD1
15 embryonic axis specification GO:0000578 9.58 CTNNB1 FZD5
16 Wnt signaling pathway involved in dorsal/ventral axis specification GO:0044332 9.58 FZD5 LRP5
17 retinal blood vessel morphogenesis GO:0061304 9.56 FZD4 LRP5
18 extracellular matrix-cell signaling GO:0035426 9.54 FZD4 LRP5 NDP
19 non-canonical Wnt signaling pathway GO:0035567 9.43 FZD1 FZD4 FZD5 FZD6 FZD7 FZD9
20 canonical Wnt signaling pathway GO:0060070 9.28 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
21 signal transduction GO:0007165 10.24 ARHGAP1 CTNNB1 FZD1 FZD4 FZD5 FZD6
22 multicellular organism development GO:0007275 10.16 ATOH7 CAMK2G FZD1 FZD4 FZD5 FZD6
23 positive regulation of transcription, DNA-templated GO:0045893 10.04 CTNNB1 FZD1 FZD4 FZD7 LRP5 NDP
24 nervous system development GO:0007399 10 ATOH7 CAMK2G CTNNB1 FZD9 NDP

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 9.88 FZD1 FZD4 FZD5 FZD6 FZD7 FZD9
2 obsolete signal transducer activity GO:0004871 9.73 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
3 transmembrane signaling receptor activity GO:0004888 9.63 FZD1 FZD4 FZD5 FZD6 FZD7 FZD9
4 PDZ domain binding GO:0030165 9.61 FZD1 FZD4 FZD7
5 amyloid-beta binding GO:0001540 9.54 FZD4 FZD5 FZD6
6 frizzled binding GO:0005109 9.5 FZD1 FZD7 NDP
7 Wnt-protein binding GO:0017147 9.5 FZD1 FZD4 FZD5 FZD6 FZD7 FZD9
8 Wnt-activated receptor activity GO:0042813 9.23 FZD1 FZD4 FZD5 FZD6 FZD7 FZD9

Sources for Exudative Vitreoretinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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