MCID: EXD008
MIFTS: 39

Exudative Vitreoretinopathy 1 malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases categories

Summaries for Exudative Vitreoretinopathy 1

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OMIM:45 Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the... (133780) more...

MalaCards based summary: Exudative Vitreoretinopathy 1, also known as retinopathy of prematurity, is related to blindness and norrie disease, and has symptoms including autosomal dominant inheritance, subcapsular cataract and retinal detachment. An important gene associated with Exudative Vitreoretinopathy 1 is FZD4 (frizzled class receptor 4), and among its related pathways are Wnt Signaling Pathway and WNT Signaling. Affiliated tissues include retina and eye, and related mouse phenotypes are pigmentation and behavior/neurological.

GeneReviews summary for fevr

Aliases & Classifications for Exudative Vitreoretinopathy 1

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Sources:
45OMIM, 9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 11DISEASES, 47Orphanet, 60UMLS, 55SNOMED-CT, 27ICD9CM, 38NCIt, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet, 25ICD10
See all sources

Exudative Vitreoretinopathy 1, Aliases & Descriptions:

Name: Exudative Vitreoretinopathy 1 45 60
Retinopathy of Prematurity 45 9 41 11 47 60
Retrolental Fibroplasia 9 41 47
Familial Exudative Vitreoretinopathy, Autosomal Dominant 19 20
 
Sepsis in Premature Infants 41 47
Rop 41 47
Premature Retinopathy 9
Adfevr 19


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases
Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
retinopathy of prematurity:
Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
sepsis in premature infants:
Prevalence: 1-5/10000 (Europe)


External Ids:

OMIM45 133780
Disease Ontology9 DOID:13025
ICD9CM27 362.21, 362.20
NCIt38 C34982
MeSH33 D012178
Orphanet47 90050, 90051
ICD10 via Orphanet26 H35.1, P36.0, P36.1 P36.2, P36.3, P36.4, P36.5, P36.8, P36.9, more
UMLS via Orphanet61 C0035344
MESH via Orphanet34 D012178
ICD1025 H35.1

Related Diseases for Exudative Vitreoretinopathy 1

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Diseases in the Exudative Vitreoretinopathy family:

Exudative Vitreoretinopathy 5 Exudative Vitreoretinopathy 3
Exudative Vitreoretinopathy 4 exudative vitreoretinopathy 1
Lrp5-Related Familial Exudative Vitreoretinopathy, Autosomal Recessive Fzd4-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant
Lrp5-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant Tspan12-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant

Diseases related to Exudative Vitreoretinopathy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1blindness30.8LRP5, NDP
2norrie disease30.7LRP5, NDP
3retinal detachment30.6NDP, FZD4
4exudative vitreoretinopathy29.6FZD4, TSPAN12, NDP, LRP5
5retinitis10.9
6endotheliitis10.8
7fzd4-related familial exudative vitreoretinopathy, autosomal dominant10.6
8lrp5-related familial exudative vitreoretinopathy, autosomal dominant10.6
9tspan12-related familial exudative vitreoretinopathy, autosomal dominant10.6
10refractive error10.5
11skin hemangioma10.5
12choroiditis10.4
13retinoblastoma10.4
14insulin-like growth factor i10.4
15bronchopulmonary dysplasia10.3
16ndp-related retinopathy of prematurity10.3
17bacteremia10.2
18bilateral retinoblastoma10.2
19periventricular leukomalacia10.2
20astigmatism10.2
21hyperglycemia10.2
22myopia10.2
23retinal disease10.2
24strabismus10.2
25leukomalacia10.2
26hypoxia10.2
27ileus10.2
28osteoporosis-pseudoglioma syndrome10.2LRP5
29peters anomaly10.1
30tetralogy of fallot10.1
31revesz syndrome10.1
32digeorge syndrome10.1
33optic nerve hypoplasia10.1
34retinoschisis10.1
35hypertrophic scars10.1
36cataract10.1
37hemangioma10.1
38thrombocytopenia10.1
39protein s deficiency10.1
40neuronitis10.1
41macular holes10.1
42paralytic ileus10.1
43cortical blindness10.1
44vitreous detachment10.1
45familial retinoblastoma10.1
46cycloplegia10.1
47coloboma10.1
48chorioamnionitis10.1
49funisitis10.1
50patent ductus arteriosus10.1

Graphical network of the top 20 diseases related to Exudative Vitreoretinopathy 1:



Diseases related to exudative vitreoretinopathy 1

Symptoms for Exudative Vitreoretinopathy 1

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Symptoms by clinical synopsis from OMIM:

133780

Clinical features from OMIM:

133780

HPO human phenotypes related to Exudative Vitreoretinopathy 1:

(show all 13)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 subcapsular cataract HP:0000523
3 retinal detachment HP:0000541
4 blindness HP:0000618
5 pigmentary retinal degeneration HP:0001146
6 retinal exudate HP:0001147
7 vitreous detachment HP:0001489
8 falciform retinal fold HP:0001493
9 recurrent fractures HP:0002757
10 infantile onset HP:0003593
11 slow progression HP:0003677
12 peripheral retinal avascularization HP:0007685
13 vitreous hemorrhage HP:0007902

Drugs & Therapeutics for Exudative Vitreoretinopathy 1

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Drug clinical trials:

Search ClinicalTrials for Exudative Vitreoretinopathy 1

Search NIH Clinical Center for Exudative Vitreoretinopathy 1

Genetic Tests for Exudative Vitreoretinopathy 1

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Genetic tests related to Exudative Vitreoretinopathy 1:

id Genetic test Affiliating Genes
1 Familial Exudative Vitreoretinopathy, Autosomal Dominant20 TSPAN12

Anatomical Context for Exudative Vitreoretinopathy 1

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MalaCards organs/tissues related to Exudative Vitreoretinopathy 1:

31
Retina, Eye

Animal Models for Exudative Vitreoretinopathy 1 or affiliated genes

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MGI Mouse Phenotypes related to Exudative Vitreoretinopathy 1:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.6FZD4, NDP, LRP5
2MP:00053868.6NDP, LRP5, FZD4
3MP:00053778.5TSPAN12, FZD4, NDP
4MP:00053918.1NDP, FZD4, TSPAN12, LRP5
5MP:00053857.9NDP, FZD4, LRP5, TSPAN12

Publications for Exudative Vitreoretinopathy 1

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Variations for Exudative Vitreoretinopathy 1

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UniProtKB/Swiss-Prot genetic disease variations for Exudative Vitreoretinopathy 1:

62 (show all 20)
id Symbol AA change Variation ID SNP ID
1FZD4p.Met105ValVAR_038947
2FZD4p.Met157ValVAR_038948
3FZD4p.Pro33SerVAR_063920rs61735304
4FZD4p.Gly36AspVAR_063921
5FZD4p.Glu40GlnVAR_063922
6FZD4p.His69TyrVAR_063923rs80358282
7FZD4p.Met105ThrVAR_063924
8FZD4p.Ile114ThrVAR_063925
9FZD4p.Cys181ArgVAR_063927
10FZD4p.Cys204ArgVAR_063929
11FZD4p.Cys204TyrVAR_063930
12FZD4p.Met223LysVAR_063931
13FZD4p.Ile256ValVAR_063932
14FZD4p.Trp335CysVAR_063933
15FZD4p.Met342ValVAR_063934
16FZD4p.Arg417GlnVAR_063936
17FZD4p.Thr445ProVAR_063937
18FZD4p.Gly488AspVAR_063938
19FZD4p.Ser497PheVAR_063939
20FZD4p.Gly525ArgVAR_063940

Clinvar genetic disease variations for Exudative Vitreoretinopathy 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FZD4NM_012193.3(FZD4): c.1479_1484delGTGGAT (p.Met493_Trp494del)deletionPathogenicrs80358301GRCh37Chr 11, 86662314: 86662319
2FZD4NM_012193.3(FZD4): c.1501_1502delCT (p.Leu501Serfs)deletionPathogenicrs80358303GRCh37Chr 11, 86662296: 86662297
3FZD4NM_012193.3(FZD4): c.1250G> A (p.Arg417Gln)single nucleotide variantPathogenicrs80358294GRCh37Chr 11, 86662548: 86662548
4FZD4NM_012193.3(FZD4): c.1024A> G (p.Met342Val)single nucleotide variantPathogenicrs80358293GRCh37Chr 11, 86662774: 86662774
5FZD4NM_012193.3(FZD4): c.1005G> C (p.Trp335Cys)single nucleotide variantPathogenicrs80358292GRCh37Chr 11, 86662793: 86662793

Expression for genes affiliated with Exudative Vitreoretinopathy 1

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Search GEO for disease gene expression data for Exudative Vitreoretinopathy 1.

Pathways for genes affiliated with Exudative Vitreoretinopathy 1

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Pathways related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Wnt Signaling Pathway NetPath36
9.1LRP5, FZD4
29.1FZD4, LRP5
3
Show member pathways
DNA damage response (only ATM dependent)36
Wnt Signaling Pathway and Pluripotency36
9.1LRP5, FZD4
49.1FZD4, LRP5
59.1FZD4, LRP5
69.1FZD4, LRP5

Compounds for genes affiliated with Exudative Vitreoretinopathy 1

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GO Terms for genes affiliated with Exudative Vitreoretinopathy 1

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Cellular components related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:00099869.4NDP, FZD4

Biological processes related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1retina vasculature morphogenesis in camera-type eyeGO:00612999.4NDP, FZD4
2sensory perception of soundGO:00076059.4FZD4, NDP
3retinal blood vessel morphogenesisGO:00613049.2LRP5, FZD4
4extracellular matrix-cell signalingGO:00354268.8NDP, FZD4, LRP5
5canonical Wnt signaling pathwayGO:00600708.8FZD4, NDP, LRP5
6positive regulation of sequence-specific DNA binding transcription factor activityGO:00510918.7LRP5, FZD4, NDP
7Wnt signaling pathwayGO:00160558.5LRP5, FZD4, NDP
8positive regulation of transcription, DNA-templatedGO:00458938.3LRP5, FZD4, NDP

Molecular functions related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Wnt-protein bindingGO:00171479.1FZD4, LRP5
2Wnt-activated receptor activityGO:00428138.2FZD4, TSPAN12, LRP5

Products for genes affiliated with Exudative Vitreoretinopathy 1

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  • Antibodies
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Exudative Vitreoretinopathy 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet