MCID: VSC016
MIFTS: 34

Vasculopathy, Retinal, with Cerebral Leukodystrophy

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases

Aliases & Classifications for Vasculopathy, Retinal, with Cerebral Leukodystrophy

MalaCards integrated aliases for Vasculopathy, Retinal, with Cerebral Leukodystrophy:

Name: Vasculopathy, Retinal, with Cerebral Leukodystrophy 53 71 28 13 69
Rvcl 53 49 71
Crv 53 49 71
Retinopathy, Vascular, with Cerebral and Renal Involvement and Raynaud and Migraine Phenomena 53 49
Retinal Vasculopathy with Cerebral Leukodystrophy 49 36
Cerebroretinal Vasculopathy, Hereditary 53 49
Vascular Retinopathy with Cerebral and Renal Involvement and Raynaud and Migraine Phenomena 71
Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy 49
Hereditary Endotheliopathy with Retinopathy-Nephropathy-Stroke 71
Cerebroretinal Vasculopathy, Hereditary; Crv 53
Cerebroretinal Vasculopathy 71
Adrvcl 49
Herns 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset in adulthood
death occurs 5 to 10 years after onset


HPO:

31
vasculopathy, retinal, with cerebral leukodystrophy:
Onset and clinical course adult onset progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Vasculopathy, Retinal, with Cerebral Leukodystrophy

NIH Rare Diseases : 49 Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, genetic condition that primarily affects the central nervous system. Symptoms begin in adulthood (usually in the 40s) and may include loss of vision, mini-strokes, and dementia. Death can sometimes occur within 10 years of the first symptoms appearing. RVCL is inherited in an autosomal dominant manner and is caused by mutations in the TREX1 gene. Treatments currently aim to manage or alleviate the symptoms rather than treating the underlying cause.RVCL is now considered to include the following 3 conditions which were previously thought to be distinct: hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS); cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR). Last updated: 10/9/2013

MalaCards based summary : Vasculopathy, Retinal, with Cerebral Leukodystrophy, also known as rvcl, is related to hereditary vascular retinopathy and hereditary endotheliopathy, retinopathy, nephropathy, and stroke, and has symptoms including seizures, hemiparesis and dysarthria. An important gene associated with Vasculopathy, Retinal, with Cerebral Leukodystrophy is TREX1 (Three Prime Repair Exonuclease 1), and among its related pathways/superpathways is Cytosolic DNA-sensing pathway. The drugs Aclarubicin and Aclacinomycins have been mentioned in the context of this disorder. Affiliated tissues include brain, retina and skin.

OMIM : 53 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). (192315)

UniProtKB/Swiss-Prot : 71 Vasculopathy, retinal, with cerebral leukodystrophy: A microvascular endotheliopathy resulting in central nervous system degeneration and retinopathy, with progressive loss of vision, stroke, motor impairment, and cognitive decline. The ocular manifestations are characterized by telangiectasias, microaneurysms and retinal capillary obliteration starting in the macula. Diseased cerebral white matter has prominent small infarcts that often coalesce to pseudotumors.

Wikipedia : 72 Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy (AD-RVCL) (previously known also as... more...

Related Diseases for Vasculopathy, Retinal, with Cerebral Leukodystrophy

Diseases related to Vasculopathy, Retinal, with Cerebral Leukodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary vascular retinopathy 11.2
2 hereditary endotheliopathy, retinopathy, nephropathy, and stroke 11.1
3 leukodystrophy 10.3
4 cerebritis 10.3
5 retinitis 10.3

Graphical network of the top 20 diseases related to Vasculopathy, Retinal, with Cerebral Leukodystrophy:



Diseases related to Vasculopathy, Retinal, with Cerebral Leukodystrophy

Symptoms & Phenotypes for Vasculopathy, Retinal, with Cerebral Leukodystrophy

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
hemiparesis
dysarthria
migraine
apraxia
more
Head And Neck Eyes:
retinal hemorrhage
macular edema
retinal exudates
retinal vasculopathy
decreased visual acuity, progressive
more
Abdomen Liver:
micronodular cirrhosis (less common)

Skin Nails Hair Skin:
punctate vasculitis skin lesions

Laboratory Abnormalities:
proteinuria
hematuria
abnormal liver enzymes

Cardiovascular Vascular:
raynaud phenomenon

Genitourinary Kidneys:
glomerular dysfunction (variable)

Neurologic Behavioral Psychiatric Manifestations:
psychiatric disturbances


Clinical features from OMIM:

192315

Human phenotypes related to Vasculopathy, Retinal, with Cerebral Leukodystrophy:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 hemiparesis 31 HP:0001269
3 dysarthria 31 HP:0001260
4 behavioral abnormality 31 HP:0000708
5 visual impairment 31 HP:0000505
6 proteinuria 31 HP:0000093
7 progressive visual loss 31 HP:0000529
8 elevated hepatic transaminases 31 HP:0002910
9 migraine 31 HP:0002076
10 hematuria 31 HP:0000790
11 apraxia 31 HP:0002186
12 dementia 31 HP:0000726
13 stroke 31 HP:0001297
14 central nervous system degeneration 31 HP:0007009
15 retinal hemorrhage 31 HP:0000573
16 abnormality of the periventricular white matter 31 HP:0002518
17 elevated erythrocyte sedimentation rate 31 HP:0003565
18 raynaud phenomenon 31 HP:0030880
19 telangiectasia 31 HP:0001009
20 lower limb hyperreflexia 31 HP:0002395
21 retinal exudate 31 HP:0001147
22 macular edema 31 HP:0040049
23 progressive forgetfulness 31 HP:0007017
24 vasculitis in the skin 31 HP:0200029
25 micronodular cirrhosis 31 occasional (7.5%) HP:0001413
26 punctate vasculitis skin lesions 31 HP:0200030
27 limb pain 31 HP:0009763

UMLS symptoms related to Vasculopathy, Retinal, with Cerebral Leukodystrophy:


seizures, hemiparesis

Drugs & Therapeutics for Vasculopathy, Retinal, with Cerebral Leukodystrophy

Drugs for Vasculopathy, Retinal, with Cerebral Leukodystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aclarubicin Investigational Phase 1 57576-44-0 451415
2 Aclacinomycins Phase 1
3 Adjuvants, Immunologic Phase 1
4 Anti-Bacterial Agents Phase 1
5 Antibiotics, Antitubercular Phase 1
6 Topoisomerase Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy Recruiting NCT02723448 Phase 1 aclarubicin

Search NIH Clinical Center for Vasculopathy, Retinal, with Cerebral Leukodystrophy

Genetic Tests for Vasculopathy, Retinal, with Cerebral Leukodystrophy

Genetic tests related to Vasculopathy, Retinal, with Cerebral Leukodystrophy:

# Genetic test Affiliating Genes
1 Vasculopathy, Retinal, with Cerebral Leukodystrophy 28 TREX1

Anatomical Context for Vasculopathy, Retinal, with Cerebral Leukodystrophy

MalaCards organs/tissues related to Vasculopathy, Retinal, with Cerebral Leukodystrophy:

38
Brain, Retina, Skin, Liver

Publications for Vasculopathy, Retinal, with Cerebral Leukodystrophy

Articles related to Vasculopathy, Retinal, with Cerebral Leukodystrophy:

# Title Authors Year
1
Renal histopathological findings of retinal vasculopathy with cerebral leukodystrophy. ( 29322432 )
2018
2
Sporadic case of retinal vasculopathy with cerebral leukodystrophy/hereditary endotheliopathy retinopathy nephropathy stroke with novel TREX1 mutation. ( 27773153 )
2016
3
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. ( 25213617 )
2014
4
Novel ophthalmic pathology in an autopsy case of autosomal dominant retinal vasculopathy with cerebral leukodystrophy. ( 21131853 )
2011
5
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. ( 17660820 )
2007

Variations for Vasculopathy, Retinal, with Cerebral Leukodystrophy

ClinVar genetic disease variations for Vasculopathy, Retinal, with Cerebral Leukodystrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TREX1 NM_033629.4(TREX1): c.341G> A (p.Arg114His) single nucleotide variant risk factor rs72556554 GRCh37 Chromosome 3, 48508395: 48508395
2 TREX1 TREX1, 1-BP INS, 3688G insertion Pathogenic
3 TREX1 TREX1, 4-BP DUP, 3727GTCA duplication Pathogenic

Expression for Vasculopathy, Retinal, with Cerebral Leukodystrophy

Search GEO for disease gene expression data for Vasculopathy, Retinal, with Cerebral Leukodystrophy.

Pathways for Vasculopathy, Retinal, with Cerebral Leukodystrophy

Pathways related to Vasculopathy, Retinal, with Cerebral Leukodystrophy according to KEGG:

36
# Name Kegg Source Accession
1 Cytosolic DNA-sensing pathway hsa04623

GO Terms for Vasculopathy, Retinal, with Cerebral Leukodystrophy

Sources for Vasculopathy, Retinal, with Cerebral Leukodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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