Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations

Preferred Label : Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations;

Symbol : RVCLS;

CISMeF acronym : RVCL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebroretinal vasculopathy, hereditary; CRV; Retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena; Vasculopathy, retinal, with cerebral leukodystrophy;

Description : Retinal vasculopathy with cerebral leukodystrophy is an adult-onset autosomal dominant disorder involving the microvessels of the brain and resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline. Death occurs in most patients 5 to 10 years after onset. A subset of affected individuals have systemic vascular involvement evidenced by Raynaud's phenomenon, micronodular cirrhosis, and glomerular dysfunction (summary by Richards et al., 2007).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the 3-prime repair exonuclease 1 gene (TREX1, 606609.0008);

Laboratory abnormalities : Proteinuria; Hematuria; Abnormal liver enzymes;

Prefixed ID : #192315;

Details

Origin ID

192315;

UMLS CUI

C1860518;

Automatic exact mappings (from CISMeF team)
- HERNS syndrome [ORDO Disease]
- Hereditary vascular retinopathy [ICD-11 More detail]
- Retinal vasculopathy and cerebral leukodystrophy [ICD-11 Subcategory]
- TREX1 wt Allele [NCIt concept]
- retinal vasculopathy with cerebral leukodystrophy [DO Concept]
Currated CISMeF NLP mapping
- Cerebroretinal vasculopathy [ORDO Disease]
- Hereditary vascular retinopathy [ORDO Disease]
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [ORDO Disease]
- retinal vasculopathy with cerebral leukodystrophy [Disease (Nov.)]
- vasculopathy, retinal, with cerebral leukodystrophy [MeSH concept]
- vasculopathy, retinal, with cerebral leukodystrophy [MeSH Supplementary Concept]
DO Cross reference
- retinal vasculopathy with cerebral leukodystrophy [DO Concept]
Genes related to phenotype
- 3-prime repair exonuclease 1 [OMIM gene]
HPO term(s)
- Abnormal periventricular white matter morphology [HPO term]
- Adult onset [HPO term]
- Apraxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Central nervous system degeneration [HPO term]
- Dementia [HPO term]
- Diminished ability to concentrate [HPO term]
- Dysarthria [HPO term]
- Edema [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Elevated hepatic transaminase [HPO term]
- Hematuria [HPO term]
- Hemiparesis [HPO term]
- Limb pain [HPO term]
- Lower limb hyperreflexia [HPO term]
- Macular edema [HPO term]
- Micronodular cirrhosis [HPO term]
- Migraine [HPO term]
- Progressive [HPO term]
- Progressive forgetfulness [HPO term]
- Progressive visual loss [HPO term]
- Proteinuria [HPO term]
- Punctate vasculitis skin lesions [HPO term]
- Raynaud phenomenon [HPO term]
- Retinal exudate [HPO term]
- Retinal hemorrhage [HPO term]
- Seizure [HPO term]
- Stroke [HPO term]
- Telangiectasia [HPO term]
- Vasculitis in the skin [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Cerebroretinal vasculopathy [ORDO Disease]
- HERNS syndrome [ORDO Disease]
- Hereditary vascular retinopathy [ORDO Disease]
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebroretinal vasculopathy [ORDO Disease]
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [ORDO Disease]
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (disorder) [SNOMED CT concept]
- retinal vasculopathy with cerebral leukodystrophy [Disease (Nov.)]
- retinal vasculopathy with cerebral leukodystrophy [DO Concept]
- vasculopathy, retinal, with cerebral leukodystrophy [MeSH Supplementary Concept]
- vasculopathy, retinal, with cerebral leukodystrophy [MeSH concept]

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