EVR7
MCID: EXD012
MIFTS: 36

Exudative Vitreoretinopathy 7 (EVR7)

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

Aliases & Classifications for Exudative Vitreoretinopathy 7

MalaCards integrated aliases for Exudative Vitreoretinopathy 7:

Name: Exudative Vitreoretinopathy 7 57 12 29 6 15
Evr7 57 12 72
Vitreoretinopathy Exudative, Type 7 39
Vitreoretinopathy, Exudative 7 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
exudative vitreoretinopathy 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080264
OMIM® 57 617572
OMIM Phenotypic Series 57 PS133780
MeSH 44 D012164

Summaries for Exudative Vitreoretinopathy 7

UniProtKB/Swiss-Prot : 72 Vitreoretinopathy, exudative 7: A form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.

MalaCards based summary : Exudative Vitreoretinopathy 7, also known as evr7, is related to anus, imperforate and lacrimoauriculodentodigital syndrome. An important gene associated with Exudative Vitreoretinopathy 7 is CTNNB1 (Catenin Beta 1), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include retina, and related phenotypes are nystagmus and retinal degeneration

Disease Ontology : 12 An exudative vitreoretinopathy that has material basis in heterozygous mutation in CTNNB1 on chromosome 3p22.1.

More information from OMIM: 617572 PS133780

Related Diseases for Exudative Vitreoretinopathy 7

Graphical network of the top 20 diseases related to Exudative Vitreoretinopathy 7:



Diseases related to Exudative Vitreoretinopathy 7

Symptoms & Phenotypes for Exudative Vitreoretinopathy 7

Human phenotypes related to Exudative Vitreoretinopathy 7:

31
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 retinal degeneration 31 HP:0000546
3 vitreoretinopathy 31 HP:0007773
4 retinal hole 31 HP:0011530

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
abnormal retinal vessels
reduced vision
retinal holes
retinal avascularity
more

Clinical features from OMIM®:

617572 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.46 CTNNB1 FGF10 TBX4 TBX5
2 normal MP:0002873 9.26 CTNNB1 FGF10 TBX4 TBX5
3 skeleton MP:0005390 9.02 CTNNB1 FGF10 TBX4 TBX5 TCF4

Drugs & Therapeutics for Exudative Vitreoretinopathy 7

Search Clinical Trials , NIH Clinical Center for Exudative Vitreoretinopathy 7

Genetic Tests for Exudative Vitreoretinopathy 7

Genetic tests related to Exudative Vitreoretinopathy 7:

# Genetic test Affiliating Genes
1 Exudative Vitreoretinopathy 7 29 CTNNB1

Anatomical Context for Exudative Vitreoretinopathy 7

MalaCards organs/tissues related to Exudative Vitreoretinopathy 7:

40
Retina

Publications for Exudative Vitreoretinopathy 7

Articles related to Exudative Vitreoretinopathy 7:

# Title Authors PMID Year
1
Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 6 57
28575650 2017
2
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 6
27915094 2017
3
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 6
26350204 2015

Variations for Exudative Vitreoretinopathy 7

ClinVar genetic disease variations for Exudative Vitreoretinopathy 7:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTNNB1 NM_001904.4(CTNNB1):c.2142_2157dup (p.His720Ter) Duplication Pathogenic 225172 rs1057519380 GRCh37: 3:41280628-41280629
GRCh38: 3:41239137-41239138
2 CTNNB1 NM_001904.4(CTNNB1):c.2128C>T (p.Arg710Cys) SNV Pathogenic 225171 rs748653573 GRCh37: 3:41279558-41279558
GRCh38: 3:41238067-41238067
3 CTNNB1 NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) SNV Pathogenic 265443 rs775104326 GRCh37: 3:41266486-41266486
GRCh38: 3:41224995-41224995
4 CTNNB1 NM_001904.4(CTNNB1):c.1829_1832del (p.Ile610fs) Deletion Pathogenic 1029546 GRCh37: 3:41277863-41277866
GRCh38: 3:41236372-41236375
5 CTNNB1 NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter) SNV Pathogenic 265085 rs886039332 GRCh37: 3:41275708-41275708
GRCh38: 3:41234217-41234217
6 CTNNB1 NM_001904.4(CTNNB1):c.1139A>T (p.Asn380Ile) SNV Likely pathogenic 520788 rs1553631770 GRCh37: 3:41274889-41274889
GRCh38: 3:41233398-41233398

Expression for Exudative Vitreoretinopathy 7

Search GEO for disease gene expression data for Exudative Vitreoretinopathy 7.

Pathways for Exudative Vitreoretinopathy 7

GO Terms for Exudative Vitreoretinopathy 7

Cellular components related to Exudative Vitreoretinopathy 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-DNA complex GO:0032993 9.16 TBX5 CTNNB1
2 beta-catenin-TCF complex GO:1990907 8.96 TCF4 CTNNB1
3 beta-catenin-TCF7L2 complex GO:0070369 8.62 TCF4 CTNNB1

Biological processes related to Exudative Vitreoretinopathy 7 according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.9 TCF4 TBX5 TBX4 CTNNB1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.84 TCF4 TBX5 FGF10 CTNNB1
3 negative regulation of cell proliferation GO:0008285 9.76 TBX5 FGF10 CTNNB1
4 positive regulation of MAPK cascade GO:0043410 9.61 FGF10 CTNNB1
5 response to estradiol GO:0032355 9.61 FGF10 CTNNB1
6 negative regulation of cell differentiation GO:0045596 9.59 FGF10 CTNNB1
7 odontogenesis of dentin-containing tooth GO:0042475 9.58 FGF10 CTNNB1
8 embryonic limb morphogenesis GO:0030326 9.57 TBX5 TBX4
9 thymus development GO:0048538 9.56 FGF10 CTNNB1
10 positive regulation of transcription, DNA-templated GO:0045893 9.56 TCF4 TBX5 FGF10 CTNNB1
11 limb development GO:0060173 9.55 FGF10 CTNNB1
12 embryonic forelimb morphogenesis GO:0035115 9.52 TBX5 CTNNB1
13 protein localization to cell surface GO:0034394 9.51 FGF10 CTNNB1
14 embryonic hindlimb morphogenesis GO:0035116 9.49 TBX4 CTNNB1
15 hair follicle morphogenesis GO:0031069 9.48 FGF10 CTNNB1
16 pancreas development GO:0031016 9.46 FGF10 CTNNB1
17 limb morphogenesis GO:0035108 9.43 TBX4 FGF10
18 morphogenesis of an epithelium GO:0002009 9.4 TBX5 TBX4
19 epithelial tube branching involved in lung morphogenesis GO:0060441 9.37 FGF10 CTNNB1
20 smooth muscle cell differentiation GO:0051145 9.32 FGF10 CTNNB1
21 metanephros morphogenesis GO:0003338 9.16 FGF10 CTNNB1
22 cell fate specification GO:0001708 9.13 TBX5 TBX4 CTNNB1
23 lung development GO:0030324 8.92 TBX5 TBX4 FGF10 CTNNB1

Molecular functions related to Exudative Vitreoretinopathy 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.13 TCF4 TBX5 TBX4
2 beta-catenin binding GO:0008013 8.62 TCF4 CTNNB1

Sources for Exudative Vitreoretinopathy 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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