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MCID: EXD001
MIFTS: 50

Exudative Vitreoretinopathy

Categories: Blood diseases, Cardiovascular diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways
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Aliases & Classifications for Exudative Vitreoretinopathy

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MalaCards integrated aliases for Exudative Vitreoretinopathy:

Name: Exudative Vitreoretinopathy 12 30 13 15 74
Familial Exudative Vitreoretinopathy 12 54 26 60 38 30 6
Fevr 12 54 26 60
Criswick-Schepens Syndrome 54 60
Exudative Vitreoretinopathy, Familial 54
Exudative Vitreoretinopathy 1 74
Vitreoretinopathy, Exudative 41

Characteristics:

Orphanet epidemiological data:

60
familial exudative vitreoretinopathy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare neurological diseases
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050535
KEGG 38 H00589
ICD9CM 36 362.10
SNOMED-CT 69 31411005 42873008
ICD10 34 H35.00
MESH via Orphanet 46 C536382
ICD10 via Orphanet 35 H35.0
UMLS via Orphanet 75 C0339539 C1851402
Orphanet 60 ORPHA891
Sources

Summaries for Exudative Vitreoretinopathy

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NIH Rare Diseases : 54 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 : 26 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 : 77 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 all 43)
# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 1 33.9 ARHGAP1 CTNNB1 FZD4 LRP5 NDP PRSS23
2 norrie disease 31.2 FZD4 LRP5 NDP TSPAN12
3 retinal detachment 30.8 ATOH7 CTNNB1 FZD4 LRP5 NDP TSPAN12
4 retinal vascular disease 30.7 FZD4 LRP5 NDP TSPAN12 ZNF408
5 coats disease 30.7 FZD4 LRP5 NDP RCBTB1 TSPAN12
6 persistent hyperplastic primary vitreous, autosomal recessive 30.6 ATOH7 TSPAN12
7 osteoporosis-pseudoglioma syndrome 30.6 CTNNB1 FZD4 LRP5 NDP
8 persistent hyperplastic primary vitreous 30.2 ATOH7 FZD4 NDP TSPAN12
9 exudative vitreoretinopathy 2, x-linked 12.8
10 exudative vitreoretinopathy 5 12.8
11 exudative vitreoretinopathy 4 12.8
12 exudative vitreoretinopathy 3 12.7
13 exudative vitreoretinopathy 6 12.7
14 exudative vitreoretinopathy 7 12.7
15 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.7
16 mental retardation with language impairment and with or without autistic features 11.0
17 macular holes 10.4
18 microcephaly 10.3
19 leukocoria 10.2 FZD4 LRP5 NDP
20 coloboma of macula 10.2
21 osteoporosis 10.2
22 digeorge syndrome 10.2
23 myopia 10.2
24 dyskeratosis congenita 10.2
25 craniodiaphyseal dysplasia 10.2 CTNNB1 LRP5
26 retinal telangiectasia 10.2 FZD4 NDP RCBTB1 TSPAN12
27 sclerosteosis 2 10.1 CTNNB1 LRP5
28 glaucoma, primary open angle 10.0
29 cutis marmorata telangiectatica congenita 10.0
30 cystic fibrosis 10.0
31 astigmatism 10.0
32 cataract 10.0
33 lymphedema 10.0
34 spinal muscular atrophy 10.0
35 cone dystrophy 10.0
36 open-angle glaucoma 10.0
37 anisometropia 10.0
38 telangiectasis 10.0
39 chronic closed-angle glaucoma 10.0
40 muscular atrophy 10.0
41 neurodevelopmental disorder with spastic diplegia and visual defects 10.0
42 loeys-dietz syndrome 10.0
43 homocystinuria 10.0

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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MGI Mouse Phenotypes related to Exudative Vitreoretinopathy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 ABCA4 ATOH7 CTNNB1 FZD1 FZD4 FZD5
2 embryo MP:0005380 10.02 ARHGAP1 CTNNB1 FZD1 FZD4 FZD5 FZD6
3 nervous system MP:0003631 10 ABCA4 ARHGAP1 ATOH7 CTNNB1 FZD1 FZD4
4 hearing/vestibular/ear MP:0005377 9.8 CTNNB1 FZD1 FZD4 FZD6 NDP TSPAN12
5 pigmentation MP:0001186 9.63 ABCA4 CTNNB1 FZD1 FZD4 LRP5 NDP
6 reproductive system MP:0005389 9.56 ARHGAP1 ATOH7 CTNNB1 FZD1 FZD4 FZD6
7 vision/eye MP:0005391 9.28 ABCA4 ATOH7 CTNNB1 FZD4 FZD5 FZD6
Sources

Drugs & Therapeutics for Exudative Vitreoretinopathy

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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

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Genetic Tests for Exudative Vitreoretinopathy

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Genetic tests related to Exudative Vitreoretinopathy:

# Genetic test Affiliating Genes
1 Exudative Vitreoretinopathy 30
2 Familial Exudative Vitreoretinopathy 30
Sources

Anatomical Context for Exudative Vitreoretinopathy

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MalaCards organs/tissues related to Exudative Vitreoretinopathy:

42
Retina, Eye, Testes
Sources

Publications for Exudative Vitreoretinopathy

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Articles related to Exudative Vitreoretinopathy:

(show top 50) (show all 223)
# Title Authors Year
1
LONGITUDINAL CHANGES IN THE OPTIC NERVE HEAD AND RETINA OVER TIME IN VERY YOUNG CHILDREN WITH FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 29190238 )
2019
2
Mirror image of familial exudative vitreoretinopathy in identical twins. ( 29492729 )
2019
3
Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease. ( 30474316 )
2019
4
A Novel Pathogenic Variant in NDP Gene With Incomplete Penetrance Manifests as X-Linked Familial Exudative Vitreoretinopathy. ( 30768221 )
2019
5
Macular Hole Complicating Familial Exudative Vitreoretinopathy Due to LRP5 Mutation in an Adolescent. ( 30768230 )
2019
6
Variable reduction in Norrin signaling activity caused by novel mutations in FZD4 identified in patients with familial exudative vitreoretinopathy. ( 30820142 )
2019
7
Familial exudative vitreoretinopathy in a patient with choroidal coloboma. ( 30846457 )
2019
8
Molecular evolutionary and structural analysis of familial exudative vitreoretinopathy associated FZD4 gene. ( 30849938 )
2019
9
MACULAR CAPILLARY DROPOUT IN FAMILIAL EXUDATIVE VITREORETINOPATHY AND ITS RELATIONSHIP WITH VISUAL ACUITY AND DISEASE PROGRESSION. ( 30865063 )
2019
10
Clinical and molecular characterization of familial exudative vitreoretinopathy associated with microcephaly. ( 31077665 )
2019
11
Macular Microvascular Findings in Familial Exudative Vitreoretinopathy on Optical Coherence Tomography Angiography. ( 31100165 )
2019
12
Familial Exudative Vitreoretinopathy and Glaucoma: Observations, Insights, and Management Strategies. ( 29088053 )
2018
13
Surgical treatments for fibrous tissue extending to the posterior retina in eyes with familial exudative vitreoretinopathy. ( 29101498 )
2018
14
Risk allele of the FZD4 gene for familial exudative vitreoretinopathy. ( 29135315 )
2018
15
Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy. ( 29207047 )
2018
16
A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion. ( 29617172 )
2018
17
Familial Exudative Vitreoretinopathy: Pathophysiology, Diagnosis, and Management. ( 29633588 )
2018
18
Familial exudative vitreoretinopathy complicated with full thickness macular hole: A case report. ( 29879073 )
2018
19
25-gauge lens-sparing vitrectomy with dissection of retrolental adhesions on the peripheral retina for familial exudative vitreoretinopathy in infants. ( 29907944 )
2018
20
The role of intravitreal ranubizumab in the treatment of familial exudative vitreoretinopathy of stage 2 or greater. ( 29977810 )
2018
21
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
22
The characteristics of digenic familial exudative vitreoretinopathy. ( 30097784 )
2018
23
LAMELLAR MACULAR HOLE WITH LAMELLAR HOLE-ASSOCIATED EPIRETINAL PROLIFERATION IN FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 30134364 )
2018
24
Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly. ( 30181612 )
2018
25
Familial Exudative Vitreoretinopathy Imaged With Optical Coherence Tomography Angiography. ( 30222830 )
2018
26
Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy. ( 30452590 )
2018
27
Optical Coherence Tomography Angiography in Familial Exudative Vitreoretinopathy: Clinical Features and Phenotype-Genotype Correlation. ( 30513533 )
2018
28
A Novel Variant of the FZD4 Gene in a Chinese Family Causes Autosomal Dominant Familial Exudative Vitreoretinopathy. ( 30537745 )
2018
29
Characteristics of Retinal Breaks and Surgical Outcomes in Rhegmatogenous Retinal Detachment in Familial Exudative Vitreoretinopathy. ( 31047381 )
2018
30
RETINAL VASCULAR TORTUOSITY AND EXUDATIVE RETINOPATHY IN A FAMILY WITH DYSKERATOSIS CONGENITA MASQUERADING AS FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 27685501 )
2017
31
Exudative Vitreoretinopathy in Dyskeratosis Congenita. ( 28734336 )
2017
32
Ultra-wide-field scanning laser ophthalmoscopy assists in the clinical detection and evaluation of asymptomatic early-stage familial exudative vitreoretinopathy. ( 27416933 )
2017
33
DISTINCTIVE WHITE FUNDUS LESIONS IN FAMILIAL EXUDATIVE VITREORETINOPATHY: A NEWLY CHARACTERIZED CLINICAL FEATURE. ( 27648585 )
2017
34
A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy. ( 27668459 )
2017
35
Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected using FZD4 molecular analysis. ( 27746066 )
2017
36
Anatomical and functional outcomes following vitrectomy for advanced familial exudative vitreoretinopathy: a single surgeon's experience. ( 27793819 )
2017
37
Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12. ( 28211206 )
2017
38
Familial exudative vitreoretinopathy presentation as persistent fetal vasculature. ( 28413837 )
2017
39
Familial Exudative Vitreoretinopathy. ( 28418565 )
2017
40
Identification of LRP5 mutations in families with familial exudative vitreoretinopathy. ( 28420620 )
2017
41
Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy. ( 28494495 )
2017
42
Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy. ( 28758032 )
2017
43
MACULAR HOLE IN A YOUNG PATIENT AFFECTED BY FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 28850050 )
2017
44
Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy. ( 28867931 )
2017
45
Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy. ( 29181528 )
2017
46
Corrigendum to "Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy". ( 29333293 )
2017
47
Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. ( 26908610 )
2016
48
KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy. ( 26472404 )
2016
49
Structure and Morphology of Radial Retinal Folds with Familial Exudative Vitreoretinopathy. ( 26477845 )
2016
50
INCREASED POSTERIOR RETINAL VESSELS IN MILD ASYMPTOMATIC FAMILIAL EXUDATIVE VITREORETINOPATHY EYES. ( 26655609 )
2016
Sources

Variations for Exudative Vitreoretinopathy

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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_002335.2(LRP5): c.4488+2T> G single nucleotide variant Pathogenic rs80358322 GRCh37 Chromosome 11, 68207386: 68207386
2 LRP5 NM_002335.2(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 rs561967326 GRCh37 Chromosome 7, 120498054: 120498054
40 TSPAN12 NM_012338.3(TSPAN12): c.-251delT deletion Uncertain significance rs561967326 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
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 KEGG:

38
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

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

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Nanog in Mammalian ESC Pluripotency 65
Show member pathways
 13.19 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
2
PI3K-Akt signaling pathway 38
Show member pathways
 12.95 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
3
Pathways in cancer 38
12.88 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
4
Signaling by Wnt 67
Show member pathways
 12.87 CTNNB1 FZD1 FZD4 FZD5 FZD6 LRP5
5
Gastric cancer 38
Show member pathways
 12.8 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
6
mTOR signaling pathway (KEGG) 38
Show member pathways
 12.55 FZD1 FZD4 FZD5 FZD6 FZD9 LRP5
7
Human Embryonic Stem Cell Pluripotency 65
Show member pathways
 12.52 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
8
WNT Signaling 65
12.45 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
9
Presynaptic function of Kainate receptors 67
Show member pathways
 12.43 FZD1 FZD4 FZD5 FZD6 FZD9
10
Human T-cell leukemia virus 1 infection 38
12.4 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
11
Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling 66
Show member pathways
 12.4 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
12
Proteoglycans in cancer 38
12.35 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
13
Wnt Signaling Pathway and Pluripotency 1
Show member pathways
 12.34 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
14
Wnt / Hedgehog / Notch 4
12.2 CTNNB1 FZD5 FZD6 LRP5
15
Hippo signaling pathway 38
12.2 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
16
Transcription Androgen Receptor nuclear signaling 23
Show member pathways
 12.17 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
17
Colorectal Cancer Metastasis 65
12.17 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
18
MAPK Signaling: Mitogen Stimulation Pathway 66
Show member pathways
 12.14 FZD1 FZD4 FZD5 FZD9
19
Presenilin-Mediated Signaling 65
12.12 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
20
AKT Signaling Pathway 68
12.1 FZD1 FZD4 FZD5 FZD9
21
Signaling pathways regulating pluripotency of stem cells 38
12.08 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
22
Cell cycle Cell cycle (generic schema) 23
Show member pathways
 12.03 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
23
Ectoderm Differentiation 1
12 CTNNB1 FZD4 FZD5
24
Glioblastoma Multiforme 65
11.96 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
25
G12-G13 in Cellular Signaling 65
11.89 ARHGAP1 CTNNB1 FZD1 FZD4 FZD5 FZD6
26
P38 MAPK Signaling Pathway (sino) 68
11.71 FZD1 FZD4 FZD5 FZD9
27
Non-Canonical Wnt Pathway 68
11.65 CTNNB1 FZD1 FZD4 FZD5 FZD9
28
Association Between Physico-Chemical Features and Toxicity Associated Pathways 1
11.63 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
29
Reelin Pathway (Cajal-Retzius cells) 65
11.56 ARHGAP1 CTNNB1 FZD1 FZD4 FZD5 FZD6
30
G-protein signaling_Regulation of RAC1 activity 23
11.44 ARHGAP1 CTNNB1 FZD1 FZD4 FZD5 FZD6
31
Regulation of FZD by ubiquitination 67
Show member pathways
 11.37 FZD4 FZD5 FZD6 LRP5
32
Wnt/beta-catenin Signaling Pathway in Leukemia 1
11.18 CTNNB1 FZD6 LRP5
33
Regulation of Wnt/B-catenin Signaling by Small Molecule Compounds 1
10.91 CTNNB1 FZD1
34
Wnt signaling network 1
10.55 FZD1 FZD4 FZD5 FZD6 FZD9 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 9.43 FZD1 FZD4 FZD5 FZD6 FZD9 NDP
2 Wnt signalosome GO:1990909 8.8 CTNNB1 FZD1 LRP5

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.96 CTNNB1 FZD1 FZD4 LRP5 NDP
2 cell surface receptor signaling pathway GO:0007166 9.8 FZD1 FZD4 FZD5 FZD6 FZD9 TSPAN12
3 neuron differentiation GO:0030182 9.78 CTNNB1 FZD1 FZD4 FZD5
4 positive regulation of DNA-binding transcription factor activity GO:0051091 9.73 CTNNB1 FZD1 FZD4 NDP
5 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.67 FZD1 FZD4 FZD5 FZD6
6 Wnt signaling pathway GO:0016055 9.61 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
7 positive regulation of mesenchymal cell proliferation GO:0002053 9.59 CTNNB1 LRP5
8 vasculature development GO:0001944 9.58 CTNNB1 FZD5
9 positive regulation of neural precursor cell proliferation GO:2000179 9.58 CTNNB1 FZD9
10 beta-catenin destruction complex disassembly GO:1904886 9.58 CTNNB1 FZD1 FZD5
11 gastrulation with mouth forming second GO:0001702 9.57 CTNNB1 LRP5
12 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.56 CTNNB1 FZD4 FZD5 FZD6
13 negative regulation of oxidative stress-induced neuron death GO:1903204 9.55 CTNNB1 FZD1
14 non-canonical Wnt signaling pathway GO:0035567 9.55 FZD1 FZD4 FZD5 FZD6 FZD9
15 embryonic axis specification GO:0000578 9.52 CTNNB1 FZD5
16 retina vasculature morphogenesis in camera-type eye GO:0061299 9.51 FZD4 NDP
17 retinal blood vessel morphogenesis GO:0061304 9.49 FZD4 LRP5
18 extracellular matrix-cell signaling GO:0035426 9.46 FZD4 NDP
19 canonical Wnt signaling pathway GO:0060070 9.23 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD9
20 multicellular organism development GO:0007275 10.08 ATOH7 FZD1 FZD4 FZD5 FZD6 FZD9

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.55 FZD1 FZD4 FZD5 FZD6 FZD9
2 amyloid-beta binding GO:0001540 9.43 FZD4 FZD5 FZD6
3 Wnt-protein binding GO:0017147 9.43 FZD1 FZD4 FZD5 FZD6 FZD9 LRP5
4 Wnt-activated receptor activity GO:0042813 9.17 FZD1 FZD4 FZD5 FZD6 FZD9 LRP5
Sources

Sources for Exudative Vitreoretinopathy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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