MCID: VSC016
MIFTS: 33

Vasculopathy, Retinal, with Cerebral Leukodystrophy

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

Aliases & Classifications for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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

Name: Vasculopathy, Retinal, with Cerebral Leukodystrophy 54 71 29 13 69
Retinal Vasculopathy with Cerebral Leukodystrophy 50 24
Herns 24 71
Rvcl 50 71
Crv 50 71
Retinopathy, Vascular, with Cerebral and Renal Involvement and Raynaud and Migraine Phenomena 50
Vascular Retinopathy with Cerebral and Renal Involvement and Raynaud and Migraine Phenomena 71
Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy 50
Hereditary Endotheliopathy with Retinopathy-Nephropathy-Stroke 71
Cerebroretinal Vasculopathy, Hereditary 50
Cerebroretinal Vasculopathy 71
Adrvcl 50

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
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 : 50 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 retinal vasculopathy with cerebral leukodystrophy, is related to hereditary vascular retinopathy and hereditary endotheliopathy, retinopathy, nephropathy, and stroke, and has symptoms including progressive visual loss, visual impairment and dysarthria. An important gene associated with Vasculopathy, Retinal, with Cerebral Leukodystrophy is TREX1 (Three Prime Repair Exonuclease 1). The drugs Aclarubicin and Aclacinomycins have been mentioned in the context of this disorder. Affiliated tissues include brain, retina and skin.

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.

OMIM : 54
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)

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:

id Related Disease Score Top Affiliating Genes
1 hereditary vascular retinopathy 11.1
2 hereditary endotheliopathy, retinopathy, nephropathy, and stroke 11.1
3 leukodystrophy 10.2
4 cerebritis 10.2
5 retinitis 10.2

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:

54

Neurologic- Central Nervous System:
dysarthria
migraine
seizures
hemiparesis
stroke
more
Cardiovascular- Vascular:
raynaud phenomenon

Abdomen- Liver:
micronodular cirrhosis (less common)

Skin Nails & Hair- Skin:
punctate vasculitis skin lesions

Laboratory- Abnormalities:
hematuria
proteinuria
abnormal liver enzymes

Head And Neck- Eyes:
decreased visual acuity, progressive
retinal vasculopathy
retinal exudates
retinal hemorrhage
macular edema
more
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:

32 (show all 28)
id Description HPO Frequency HPO Source Accession
1 progressive visual loss 32 HP:0000529
2 visual impairment 32 HP:0000505
3 dysarthria 32 HP:0001260
4 migraine 32 HP:0002076
5 seizures 32 HP:0001250
6 hematuria 32 HP:0000790
7 proteinuria 32 HP:0000093
8 hemiparesis 32 HP:0001269
9 stroke 32 HP:0001297
10 dementia 32 HP:0000726
11 micronodular cirrhosis 32 occasional (7.5%) HP:0001413
12 telangiectasia 32 HP:0001009
13 retinal hemorrhage 32 HP:0000573
14 macular edema 32 HP:0040049
15 punctate vasculitis skin lesions 32 HP:0200030
16 central nervous system degeneration 32 HP:0007009
17 progressive forgetfulness 32 HP:0007017
18 apraxia 32 HP:0002186
19 pigmentary retinal degeneration 32 HP:0001146
20 lower limb hyperreflexia 32 HP:0002395
21 retinal exudate 32 HP:0001147
22 elevated hepatic transaminases 32 HP:0002910
23 elevated erythrocyte sedimentation rate 32 HP:0003565
24 behavioral abnormality 32 HP:0000708
25 abnormality of the periventricular white matter 32 HP:0002518
26 vasculitis in the skin 32 HP:0200029
27 limb pain 32 HP:0009763
28 abnormality of the musculature of the lower limbs 32 HP:0001437

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


hemiparesis, seizures

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)
id 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:


id 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:

id Genetic test Affiliating Genes
1 Vasculopathy, Retinal, with Cerebral Leukodystrophy 29
2 Retinal Vasculopathy with Cerebral Leukodystrophy 24 TREX1

Anatomical Context for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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

39
Brain, Retina, Skin, Liver

Publications for Vasculopathy, Retinal, with Cerebral Leukodystrophy

Variations for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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

6
id 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

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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