Exudative vitreoretinopathy 1

Preferred Label : Exudative vitreoretinopathy 1;

Symbol : EVR1;

CISMeF acronym : EVR1; ROP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Exudative vitreoretinopathy, familial, autosomal dominant; Fevr, autosomal dominant; Criswick-schepens syndrome;

Included titles and symbols : Retinopathy of prematurity; ROP;

Description : Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the frizzled 4 gene (FZD4, 604579.0001);

Prefixed ID : #133780;

Details

Origin ID

133780;

UMLS CUI

C1851402;

Automatic exact mappings (from CISMeF team)
- FZD4 wt Allele [NCIt concept]
- Immature Retinopathy of Prematurity [NCIt concept]
- LRP5 wt Allele [NCIt concept]
- Removal of plaster cast [ICD-11 More detail]
- Retinopathy of Prematurity [NCIt concept]
- Retinopathy of prematurity [ORDO Disease]
- Retinopathy of prematurity [ICD-11 Subcategory]
- Retinopathy of prematurity [MedDRA Preferred Term]
- Retinopathy of prematurity [ICD-10 Sub-category]
- Retinopathy of prematurity [HPO term]
- Retinopathy of prematurity (disorder) [SNOMED CT concept]
- retinopathy of prematurity [DO Concept]
- retinopathy of prematurity [MeSH concept]
- retinopathy of prematurity [MeSH Descriptor]
- symbol withdrawn EVR1 [HGNC gene]
Broader ORDO disease(s)
- Familial exudative vitreoretinopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Exudative Vitreoretinopathy 1 [NCIt concept]
- Exudative vitreoretinopathy 1 [MeSH concept]
- Familial exudative vitreoretinopathy [ORDO Disease]
- Familial exudative vitreoretinopathy [ICD-11 More detail]
- exudative vitreoretinopathy 1 [DO Concept]
- exudative vitreoretinopathy 1 [MeSH Supplementary Concept]
DO Cross reference
- exudative vitreoretinopathy 1 [DO Concept]
Genes related to phenotype
- Frizzled class receptor 4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Blindness [HPO term]
- Exudative vitreoretinopathy [HPO term]
- Falciform retinal fold [HPO term]
- Infantile onset [HPO term]
- Partial-total retinal detachment [HPO term]
- Peripheral retinal avascularization [HPO term]
- Posterior vitreous detachment [HPO term]
- Recurrent fractures [HPO term]
- Reduced visual acuity [HPO term]
- Retinal detachment [HPO term]
- Retinal exudate [HPO term]
- Retinal neovascularization [HPO term]
- Slowly progressive [HPO term]
- Subcapsular cataract [HPO term]
- Vitreous hemorrhage [HPO term]
ORDO concept(s)
- Familial exudative vitreoretinopathy [ORDO Disease]
- Retinopathy of prematurity [ORDO Disease]
See also inter- (CISMeF)
- Familial exudative vitreoretinopathy (disorder) [SNOMED CT concept]
- Retinopathy of Prematurity, AE [NCIt concept]
- familial exudative vitreoretinopathy [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Exudative Vitreoretinopathy 1 [NCIt concept]
- Exudative vitreoretinopathy 1 [MeSH concept]
- exudative vitreoretinopathy 1 [MeSH Supplementary Concept]

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