FEVR
MCID: EXD001
MIFTS: 51

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 29 13 15 73
Familial Exudative Vitreoretinopathy 12 53 25 59 37 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
SNOMED-CT 68 31411005 42873008
Orphanet 59 ORPHA891
ICD10 via Orphanet 34 H35.0
MESH via Orphanet 45 C536382
UMLS via Orphanet 74 C0339539 C1851402
KEGG 37 H00589

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 Wnt signaling pathway and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include retina, eye and testes, and related phenotypes are cardiovascular system and embryo

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.

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.

Wikipedia : 76 Familial exudative vitreoretinopathy (FEVR) (/�?fiːv�?r/ FEE-v�?r) 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 41)
# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 1 34.0 ARHGAP1 CTNNB1 FZD4 LRP5 NDP PRSS23
2 norrie disease 31.1 FZD4 LRP5 NDP TSPAN12
3 retinal detachment 30.7 ATOH7 CTNNB1 FZD4 LRP5 NDP TSPAN12
4 coats disease 30.5 FZD4 LRP5 NDP RCBTB1 TSPAN12
5 persistent hyperplastic primary vitreous, autosomal recessive 30.5 ATOH7 TSPAN12
6 osteoporosis-pseudoglioma syndrome 30.2 CTNNB1 FZD4 LRP5 NDP
7 persistent hyperplastic primary vitreous 30.2 ATOH7 FZD4 NDP TSPAN12
8 exudative vitreoretinopathy 2, x-linked 12.8
9 exudative vitreoretinopathy 4 12.7
10 exudative vitreoretinopathy 5 12.7
11 exudative vitreoretinopathy 3 12.6
12 exudative vitreoretinopathy 7 12.6
13 exudative vitreoretinopathy 6 12.6
14 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.3
15 mental retardation with language impairment and with or without autistic features 11.0
16 microcephaly 10.3
17 osteoporosis 10.2
18 digeorge syndrome 10.2
19 myopia 10.2
20 dyskeratosis congenita 10.2
21 macular holes 10.2
22 leukocoria 10.1 FZD4 LRP5 NDP
23 retinal telangiectasia 10.1 FZD4 NDP RCBTB1 TSPAN12
24 retinal vascular disease 10.1 FZD4 LRP5 NDP TSPAN12 ZNF408
25 craniodiaphyseal dysplasia 10.1 CTNNB1 LRP5
26 glaucoma, primary open angle 10.0
27 cutis marmorata telangiectatica congenita 10.0
28 cystic fibrosis 10.0
29 astigmatism 10.0
30 cataract 10.0
31 lymphedema 10.0
32 spinal muscular atrophy 10.0
33 cone dystrophy 10.0
34 open-angle glaucoma 10.0
35 anisometropia 10.0
36 chronic closed-angle glaucoma 10.0
37 muscular atrophy 10.0
38 loeys-dietz syndrome 10.0
39 palmoplantar keratosis 10.0
40 periodontitis 10.0
41 homocystinuria 10.0

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



Diseases related to Exudative Vitreoretinopathy

Symptoms & Phenotypes for Exudative Vitreoretinopathy

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.17 ABCA4 ATOH7 CTNNB1 FZD1 FZD4 FZD5
2 embryo MP:0005380 10.1 ARHGAP1 CTNNB1 FZD1 FZD4 FZD5 FZD6
3 nervous system MP:0003631 10.06 ABCA4 ARHGAP1 ATOH7 CTNNB1 FZD1 FZD4
4 normal MP:0002873 9.86 ATOH7 CTNNB1 FZD1 FZD4 FZD6 FZD8
5 hearing/vestibular/ear MP:0005377 9.85 CTNNB1 FZD1 FZD4 FZD6 NDP TSPAN12
6 pigmentation MP:0001186 9.7 ABCA4 CTNNB1 FZD1 FZD4 FZD7 LRP5
7 reproductive system MP:0005389 9.56 ARHGAP1 ATOH7 CTNNB1 FZD1 FZD4 FZD6
8 vision/eye MP:0005391 9.28 ABCA4 ATOH7 CTNNB1 FZD4 FZD5 FZD6

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 214)
# 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
PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY. ( 30074570 )
2018
11
The characteristics of digenic familial exudative vitreoretinopathy. ( 30097784 )
2018
12
LAMELLAR MACULAR HOLE WITH LAMELLAR HOLE-ASSOCIATED EPIRETINAL PROLIFERATION IN FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 30134364 )
2018
13
Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly. ( 30181612 )
2018
14
Familial Exudative Vitreoretinopathy Imaged With Optical Coherence Tomography Angiography. ( 30222830 )
2018
15
Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy. ( 30452590 )
2018
16
Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease. ( 30474316 )
2018
17
Optical Coherence Tomography Angiography in Familial Exudative Vitreoretinopathy: Clinical Features and Phenotype-Genotype Correlation. ( 30513533 )
2018
18
A Novel Variant of the FZD4 Gene in a Chinese Family Causes Autosomal Dominant Familial Exudative Vitreoretinopathy. ( 30537745 )
2018
19
Familial Exudative Vitreoretinopathy. ( 28418565 )
2017
20
LONGITUDINAL CHANGES IN THE OPTIC NERVE HEAD AND RETINA OVER TIME IN VERY YOUNG CHILDREN WITH FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 29190238 )
2017
21
Familial exudative vitreoretinopathy presentation as persistent fetal vasculature. ( 28413837 )
2017
22
Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy. ( 28867931 )
2017
23
RETINAL VASCULAR TORTUOSITY AND EXUDATIVE RETINOPATHY IN A FAMILY WITH DYSKERATOSIS CONGENITA MASQUERADING AS FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 27685501 )
2017
24
Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy. ( 28758032 )
2017
25
Risk allele of the FZD4 gene for familial exudative vitreoretinopathy. ( 29135315 )
2017
26
Corrigendum to "Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy". ( 29333293 )
2017
27
Exudative Vitreoretinopathy in Dyskeratosis Congenita. ( 28734336 )
2017
28
Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy. ( 29181528 )
2017
29
Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12. ( 28211206 )
2017
30
MACULAR HOLE IN A YOUNG PATIENT AFFECTED BY FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 28850050 )
2017
31
Identification of LRP5 mutations in families with familial exudative vitreoretinopathy. ( 28420620 )
2017
32
Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy. ( 28494495 )
2017
33
Electroretinographic effects of retinal dragging and retinal folds in eyes with familial exudative vitreoretinopathy. ( 27456314 )
2016
34
Anatomical and functional outcomes following vitrectomy for advanced familial exudative vitreoretinopathy: a single surgeon's experience. ( 27793819 )
2016
35
DISTINCTIVE WHITE FUNDUS LESIONS IN FAMILIAL EXUDATIVE VITREORETINOPATHY: A NEWLY CHARACTERIZED CLINICAL FEATURE. ( 27648585 )
2016
36
Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy. ( 27228167 )
2016
37
A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy. ( 27720678 )
2016
38
Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR). ( 28002565 )
2016
39
Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected using FZD4 molecular analysis. ( 27746066 )
2016
40
Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. ( 26908610 )
2016
41
Retinopathy of Prematurity Versus Familial Exudative Vitreoretinopathy: Report on Clinical and Angiographic Findings. ( 26731204 )
2016
42
INCREASED POSTERIOR RETINAL VESSELS IN MILD ASYMPTOMATIC FAMILIAL EXUDATIVE VITREORETINOPATHY EYES. ( 26655609 )
2016
43
Mutations in ATOH7 gene in patients with nonsyndromic congenital retinal nonattachment and familial exudative vitreoretinopathy. ( 26933893 )
2016
44
Ultra-wide-field scanning laser ophthalmoscopy assists in the clinical detection and evaluation of asymptomatic early-stage familial exudative vitreoretinopathy. ( 27416933 )
2016
45
Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis. ( 27212378 )
2016
46
CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype. ( 26967979 )
2016
47
Pharmacologic Activation of Wnt Signaling by Lithium Normalizes Retinal Vasculature in a Murine Model of Familial Exudative Vitreoretinopathy. ( 27524797 )
2016
48
SURGICAL MANAGEMENT OF ADVANCED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH COMPLICATIONS. ( 26807630 )
2016
49
A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy. ( 27668459 )
2016
50
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

Variations for Exudative Vitreoretinopathy

ClinVar genetic disease variations for Exudative Vitreoretinopathy:

6 (show top 50) (show all 250)
# 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.205C> T (p.His69Tyr) single nucleotide variant Likely benign rs80358282 GRCh38 Chromosome 11, 86954881: 86954881
4 FZD4 NM_012193.3(FZD4): c.205C> T (p.His69Tyr) single nucleotide variant Likely benign rs80358282 GRCh37 Chromosome 11, 86665923: 86665923
5 FZD4 NM_012193.3(FZD4): c.97C> T (p.Pro33Ser) single nucleotide variant Benign/Likely benign rs61735304 GRCh37 Chromosome 11, 86666031: 86666031
6 FZD4 NM_012193.3(FZD4): c.97C> T (p.Pro33Ser) single nucleotide variant Benign/Likely benign rs61735304 GRCh38 Chromosome 11, 86954989: 86954989
7 TSPAN12 NM_012338.3(TSPAN12): c.469-5dupT duplication Benign/Likely benign rs34396874 GRCh37 Chromosome 7, 120446751: 120446751
8 TSPAN12 NM_012338.3(TSPAN12): c.469-5dupT duplication Benign/Likely benign rs34396874 GRCh38 Chromosome 7, 120806697: 120806697
9 FZD4 NM_012193.3(FZD4): c.1282_1285delGACA (p.Asp428Serfs) deletion Pathogenic rs80358295 GRCh37 Chromosome 11, 86662513: 86662516
10 FZD4 NM_012193.3(FZD4): c.1282_1285delGACA (p.Asp428Serfs) deletion Pathogenic rs80358295 GRCh38 Chromosome 11, 86951471: 86951474
11 FZD4 NM_012193.3(FZD4): c.313A> G (p.Met105Val) single nucleotide variant Pathogenic rs80358284 GRCh38 Chromosome 11, 86952443: 86952443
12 FZD4 NM_012193.3(FZD4): c.313A> G (p.Met105Val) single nucleotide variant Pathogenic rs80358284 GRCh37 Chromosome 11, 86663485: 86663485
13 RCBTB1 NM_018191.3(RCBTB1): c.1172+1G> A single nucleotide variant Likely pathogenic rs869312819 GRCh37 Chromosome 13, 50118872: 50118872
14 RCBTB1 NM_018191.3(RCBTB1): c.1172+1G> A single nucleotide variant Likely pathogenic rs869312819 GRCh38 Chromosome 13, 49544736: 49544736
15 NDP NM_000266.3(NDP): c.-77A> G single nucleotide variant Uncertain significance rs869312820 GRCh37 Chromosome X, 43817968: 43817968
16 NDP NM_000266.3(NDP): c.-77A> G single nucleotide variant Uncertain significance rs869312820 GRCh38 Chromosome X, 43958722: 43958722
17 TSPAN12 NM_012338.3(TSPAN12): c.765G> T (p.Pro255=) single nucleotide variant Benign rs41623 GRCh37 Chromosome 7, 120428799: 120428799
18 TSPAN12 NM_012338.3(TSPAN12): c.765G> T (p.Pro255=) single nucleotide variant Benign rs41623 GRCh38 Chromosome 7, 120788745: 120788745
19 TSPAN12 NM_012338.3(TSPAN12): c.*553C> G single nucleotide variant Uncertain significance rs886061956 GRCh37 Chromosome 7, 120428093: 120428093
20 TSPAN12 NM_012338.3(TSPAN12): c.*553C> G single nucleotide variant Uncertain significance rs886061956 GRCh38 Chromosome 7, 120788039: 120788039
21 TSPAN12 NM_012338.3(TSPAN12): c.*40T> C single nucleotide variant Uncertain significance rs375824224 GRCh37 Chromosome 7, 120428606: 120428606
22 TSPAN12 NM_012338.3(TSPAN12): c.*40T> C single nucleotide variant Uncertain significance rs375824224 GRCh38 Chromosome 7, 120788552: 120788552
23 TSPAN12 NM_012338.3(TSPAN12): c.304G> T (p.Val102Phe) single nucleotide variant Uncertain significance rs777946907 GRCh37 Chromosome 7, 120455839: 120455839
24 TSPAN12 NM_012338.3(TSPAN12): c.304G> T (p.Val102Phe) single nucleotide variant Uncertain significance rs777946907 GRCh38 Chromosome 7, 120815785: 120815785
25 TSPAN12 NM_012338.3(TSPAN12): c.*1243A> T single nucleotide variant Likely benign rs189221112 GRCh37 Chromosome 7, 120427403: 120427403
26 TSPAN12 NM_012338.3(TSPAN12): c.*1243A> T single nucleotide variant Likely benign rs189221112 GRCh38 Chromosome 7, 120787349: 120787349
27 TSPAN12 NM_012338.3(TSPAN12): c.*1067_*1068delAT deletion Likely benign rs570865840 GRCh37 Chromosome 7, 120427578: 120427579
28 TSPAN12 NM_012338.3(TSPAN12): c.*1067_*1068delAT deletion Likely benign rs570865840 GRCh38 Chromosome 7, 120787524: 120787525
29 TSPAN12 NM_012338.3(TSPAN12): c.*103C> A single nucleotide variant Uncertain significance rs886061957 GRCh37 Chromosome 7, 120428543: 120428543
30 TSPAN12 NM_012338.3(TSPAN12): c.*103C> A single nucleotide variant Uncertain significance rs886061957 GRCh38 Chromosome 7, 120788489: 120788489
31 TSPAN12 NM_012338.3(TSPAN12): c.*39C> T single nucleotide variant Benign rs41622 GRCh37 Chromosome 7, 120428607: 120428607
32 TSPAN12 NM_012338.3(TSPAN12): c.*39C> T single nucleotide variant Benign rs41622 GRCh38 Chromosome 7, 120788553: 120788553
33 TSPAN12 NM_012338.3(TSPAN12): c.367G> C (p.Val123Leu) single nucleotide variant Likely benign rs145676655 GRCh37 Chromosome 7, 120450618: 120450618
34 TSPAN12 NM_012338.3(TSPAN12): c.367G> C (p.Val123Leu) single nucleotide variant Likely benign rs145676655 GRCh38 Chromosome 7, 120810564: 120810564
35 TSPAN12 NM_012338.3(TSPAN12): c.-102G> A single nucleotide variant Uncertain significance rs886061959 GRCh37 Chromosome 7, 120497905: 120497905
36 TSPAN12 NM_012338.3(TSPAN12): c.-102G> A single nucleotide variant Uncertain significance rs886061959 GRCh38 Chromosome 7, 120857851: 120857851
37 TSPAN12 NM_012338.3(TSPAN12): c.-246T> G single nucleotide variant Uncertain significance rs545477642 GRCh37 Chromosome 7, 120498049: 120498049
38 TSPAN12 NM_012338.3(TSPAN12): c.-246T> G single nucleotide variant Uncertain significance rs545477642 GRCh38 Chromosome 7, 120857995: 120857995
39 TSPAN12 NM_012338.3(TSPAN12): c.-251delT deletion Uncertain significance rs886061962 GRCh37 Chromosome 7, 120498054: 120498054
40 TSPAN12 NM_012338.3(TSPAN12): c.-251delT deletion Uncertain significance rs886061962 GRCh38 Chromosome 7, 120858000: 120858000
41 TSPAN12 NM_012338.3(TSPAN12): c.-251dupT duplication Uncertain significance rs561967326 GRCh37 Chromosome 7, 120498054: 120498054
42 TSPAN12 NM_012338.3(TSPAN12): c.-251dupT duplication Uncertain significance rs561967326 GRCh38 Chromosome 7, 120858000: 120858000
43 TSPAN12 NM_012338.3(TSPAN12): c.*1139A> T single nucleotide variant Likely benign rs192303288 GRCh37 Chromosome 7, 120427507: 120427507
44 TSPAN12 NM_012338.3(TSPAN12): c.*1139A> T single nucleotide variant Likely benign rs192303288 GRCh38 Chromosome 7, 120787453: 120787453
45 TSPAN12 NM_012338.3(TSPAN12): c.*334A> T single nucleotide variant Likely benign rs545129654 GRCh37 Chromosome 7, 120428312: 120428312
46 TSPAN12 NM_012338.3(TSPAN12): c.*334A> T single nucleotide variant Likely benign rs545129654 GRCh38 Chromosome 7, 120788258: 120788258
47 TSPAN12 NM_012338.3(TSPAN12): c.-43G> A single nucleotide variant Uncertain significance rs377745738 GRCh37 Chromosome 7, 120496860: 120496860
48 TSPAN12 NM_012338.3(TSPAN12): c.-43G> A single nucleotide variant Uncertain significance rs377745738 GRCh38 Chromosome 7, 120856806: 120856806
49 TSPAN12 NM_012338.3(TSPAN12): c.-314G> T single nucleotide variant Uncertain significance rs886061963 GRCh37 Chromosome 7, 120498117: 120498117
50 TSPAN12 NM_012338.3(TSPAN12): c.-314G> T single nucleotide variant Uncertain significance rs886061963 GRCh38 Chromosome 7, 120858063: 120858063

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:

37
# 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
13.25 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
2
Show member pathways
13.03 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
3
Show member pathways
12.99 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
4 12.95 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
5
Show member pathways
12.86 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
6
Show member pathways
12.66 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD8
7
Show member pathways
12.66 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
8
Show member pathways
12.62 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
9
Show member pathways
12.59 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
10
Show member pathways
12.53 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
11 12.53 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
12
Show member pathways
12.51 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
13 12.51 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
14
Show member pathways
12.45 CTNNB1 FZD4 FZD5 FZD8
15 12.41 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
16 12.26 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
17 12.22 CTNNB1 FZD5 FZD6 LRP5
18 12.22 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
19
Show member pathways
12.2 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
20 12.17 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
21
Show member pathways
12.15 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
22 12.14 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
23 12.11 CTNNB1 FZD4 FZD5 FZD8
24
Show member pathways
12.09 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
25 12.02 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
26 11.95 ARHGAP1 CTNNB1 FZD1 FZD4 FZD5 FZD6
27 11.72 CTNNB1 FZD1 FZD4 FZD5
28 11.7 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
29 11.63 FZD1 FZD4 FZD5
30 11.61 ARHGAP1 CTNNB1 FZD1 FZD4 FZD5 FZD6
31 11.49 ARHGAP1 CTNNB1 FZD1 FZD4 FZD5 FZD6
32
Show member pathways
11.43 FZD4 FZD5 FZD6 FZD8 LRP5
33 11.2 CTNNB1 FZD6 LRP5
34 11.15 CTNNB1 FZD1 FZD7 FZD8
35 10.61 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8

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 9.55 FZD1 FZD4 FZD5 FZD6 NDP
2 Wnt-Frizzled-LRP5/6 complex GO:1990851 8.96 FZD8 LRP5
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 cell surface receptor signaling pathway GO:0007166 9.91 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
2 positive regulation of DNA-binding transcription factor activity GO:0051091 9.8 CTNNB1 FZD1 FZD4 NDP
3 neuron differentiation GO:0030182 9.8 CTNNB1 FZD1 FZD4 FZD5 FZD7 FZD8
4 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.73 CTNNB1 FZD4 FZD5 FZD6
5 T cell differentiation in thymus GO:0033077 9.71 CTNNB1 FZD5 FZD7 FZD8
6 positive regulation of JUN kinase activity GO:0043507 9.7 FZD4 FZD5 FZD8
7 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.65 FZD1 FZD4 FZD5 FZD6 FZD7
8 Wnt signaling pathway GO:0016055 9.65 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
9 beta-catenin destruction complex disassembly GO:1904886 9.63 CTNNB1 FZD1 FZD5
10 non-canonical Wnt signaling pathway GO:0035567 9.63 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
11 positive regulation of mesenchymal cell proliferation GO:0002053 9.61 CTNNB1 LRP5
12 vasculature development GO:0001944 9.61 CTNNB1 FZD5
13 gastrulation with mouth forming second GO:0001702 9.6 CTNNB1 LRP5
14 negative regulation of cell-substrate adhesion GO:0010812 9.59 FZD4 FZD7
15 negative regulation of oxidative stress-induced neuron death GO:1903204 9.58 CTNNB1 FZD1
16 embryonic axis specification GO:0000578 9.57 CTNNB1 FZD5
17 retina vasculature morphogenesis in camera-type eye GO:0061299 9.56 FZD4 NDP
18 retinal blood vessel morphogenesis GO:0061304 9.55 FZD4 LRP5
19 extracellular matrix-cell signaling GO:0035426 9.51 FZD4 NDP
20 canonical Wnt signaling pathway GO:0060070 9.28 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
21 signal transduction GO:0007165 10.18 ARHGAP1 FZD1 FZD4 FZD5 FZD6 FZD7
22 G protein-coupled receptor signaling pathway GO:0007186 10.09 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
23 multicellular organism development GO:0007275 10.08 ATOH7 FZD1 FZD4 FZD5 FZD6 FZD7
24 positive regulation of transcription, DNA-templated GO:0045893 10.01 CTNNB1 FZD1 FZD4 FZD7 LRP5 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 FZD8
2 ubiquitin protein ligase binding GO:0031625 9.73 FZD4 FZD5 FZD6 FZD8
3 PDZ domain binding GO:0030165 9.56 FZD1 FZD4 FZD7 FZD8
4 transmembrane signaling receptor activity GO:0004888 9.55 FZD1 FZD4 FZD5 FZD6 FZD8
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 FZD8
8 Wnt-activated receptor activity GO:0042813 9.23 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8

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
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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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