RVCL
MCID: VSC016
MIFTS: 30

Vasculopathy, Retinal, with Cerebral Leukodystrophy (RVCL) malady

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

Aliases & Classifications for Vasculopathy, Retinal, with Cerebral Leukodystrophy

Aliases & Descriptions for Vasculopathy, Retinal, with Cerebral Leukodystrophy:

Name: Vasculopathy, Retinal, with Cerebral Leukodystrophy 54 66 13 69
Retinal Vasculopathy with Cerebral Leukodystrophy 50 24 29
Herns 24 66
Rvcl 50 66
Crv 50 66
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 66
Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy 50
Hereditary Endotheliopathy with Retinopathy-Nephropathy-Stroke 66
Cerebroretinal Vasculopathy, Hereditary 50
Cerebroretinal Vasculopathy 66
Adrvcl 50

Characteristics:

HPO:

32
vasculopathy, retinal, with cerebral leukodystrophy:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset


Classifications:



External Ids:

OMIM 54 192315
MedGen 40 C1860518

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 cerebroretinal vasculopathy 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). The drugs Aclarubicin and Aclacinomycins have been mentioned in the context of this disorder. Affiliated tissues include brain, retina and skin.

OMIM : 54 Retinal vasculopathy with cerebral leukodystrophy is an adult-onset autosomal dominant disorder involving the... (192315) more...

UniProtKB/Swiss-Prot : 66 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 : 71 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 cerebroretinal vasculopathy 12.2
2 hereditary endotheliopathy, retinopathy, nephropathy, and stroke 11.2
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 by clinical synopsis from OMIM:

192315

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

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 Topoisomerase Inhibitors Phase 1
5 Anti-Bacterial Agents Phase 1
6 Antibiotics, Antitubercular Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy Recruiting NCT02723448 Phase 1
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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