MCID: EXD008
MIFTS: 45

Exudative Vitreoretinopathy 1 malady

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

Summaries for Exudative Vitreoretinopathy 1

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OMIM:47 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:
47OMIM, 10Disease Ontology, 21GeneReviews, 43NIH Rare Diseases, 22GeneTests, 12DISEASES, 49Orphanet, 62UMLS, 57SNOMED-CT, 29ICD9CM, 40NCIt, 35MeSH, 28ICD10 via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet, 27ICD10
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Exudative Vitreoretinopathy 1, Aliases & Descriptions:

Name: Exudative Vitreoretinopathy 1 47 62
Retinopathy of Prematurity 47 10 43 12 49
Retrolental Fibroplasia 10 43 49
Familial Exudative Vitreoretinopathy, Autosomal Dominant 21 22
 
Sepsis in Premature Infants 43 49
Rop 43 49
Premature Retinopathy 10
Adfevr 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases
Orphanet: 49 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

49
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:

OMIM47 133780
Disease Ontology10 DOID:13025
ICD9CM29 362.21, 362.20
NCIt40 C34982
MeSH35 D012178
Orphanet49 90050, 90051
ICD10 via Orphanet28 H35.1, P36.0, P36.1 P36.2, P36.3, P36.4, P36.5, P36.8, P36.9, more
UMLS via Orphanet63 C0035344
MESH via Orphanet36 D012178
ICD1027 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/GeneDecks gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1blindness30.9NDP, LRP5
2norrie disease30.8LRP5, NDP
3retinal detachment30.8NDP, FZD4
4exudative vitreoretinopathy30.3NDP, FZD4, TSPAN12, LRP5
5retinitis10.9
6endotheliitis10.8
7fzd4-related familial exudative vitreoretinopathy, autosomal dominant10.5
8lrp5-related familial exudative vitreoretinopathy, autosomal dominant10.5
9tspan12-related familial exudative vitreoretinopathy, autosomal dominant10.5
10refractive error10.5
11skin hemangioma10.5
12choroiditis10.5
13retinoblastoma10.4
14insulin-like growth factor i10.4
15bronchopulmonary dysplasia10.3
16bacteremia10.3
17bilateral retinoblastoma10.3
18periventricular leukomalacia10.3
19astigmatism10.3
20hyperglycemia10.3
21myopia10.3
22retinal disease10.3
23strabismus10.3
24leukomalacia10.3
25ndp-related retinopathy of prematurity10.3
26hypoxia10.3
27ileus10.3
28peters anomaly10.1
29tetralogy of fallot10.1
30revesz syndrome10.1
31digeorge syndrome10.1
32optic nerve hypoplasia10.1
33retinoschisis10.1
34hypertrophic scars10.1
35cataract10.1
36hemangioma10.1
37thrombocytopenia10.1
38protein s deficiency10.1
39neuronitis10.1
40macular holes10.1
41paralytic ileus10.1
42cortical blindness10.1
43vitreous detachment10.1
44familial retinoblastoma10.1
45cycloplegia10.1
46coloboma10.1
47chorioamnionitis10.1
48funisitis10.1
49patent ductus arteriosus10.1
50persistent hyperplastic primary vitreous10.1

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 Dominant22 TSPAN12

Anatomical Context for Exudative Vitreoretinopathy 1

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MalaCards organs/tissues related to Exudative Vitreoretinopathy 1:

33
Retina, Eye

Animal Models for Exudative Vitreoretinopathy 1 or affiliated genes

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MGI Mouse Phenotypes related to Exudative Vitreoretinopathy 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.6NDP, FZD4, LRP5
2MP:00053868.6NDP, FZD4, LRP5
3MP:00053778.5NDP, FZD4, TSPAN12
4MP:00053918.1NDP, FZD4, TSPAN12, LRP5
5MP:00053857.9LRP5, TSPAN12, FZD4, NDP

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:

64 (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:

7
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/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Wnt Signaling Pathway NetPath38
9.1LRP5, FZD4
29.1FZD4, LRP5
3
Show member pathways
DNA damage response (only ATM dependent)38
Wnt Signaling Pathway and Pluripotency38
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/GeneDecks:

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

Biological processes related to Exudative Vitreoretinopathy 1 according to GeneCards/GeneDecks:

(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/GeneDecks:

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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Sources for Exudative Vitreoretinopathy 1

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet