CRV
MCID: RTN228
MIFTS: 33

Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations (CRV)

Categories: Rare diseases

Aliases & Classifications for Retinal Vasculopathy with Cerebral Leukoencephalopathy and...

MalaCards integrated aliases for Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations:

Name: Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations 24 52 52
Retinal Vasculopathy with Cerebral Leukodystrophy 24 52 36
Hereditary Vascular Retinopathy 24 52
Rvcl-S 24 52
Herns 24 52
Rvcl 24 52
Crv 24 52
Hvr 24 52
Retinopathy, Vascular, with Cerebral and Renal Involvement and Raynaud and Migraine Phenomena 52
Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy 52
Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke 52
Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke 24
Retinal Vasculopathy and Cerebral Leukoencephalopathy 52
Cerebroretinal Vasculopathy, Hereditary 52
Hereditary Systemic Angiopathy 24
Cerebroretinal Vasculopathy 24
Adrvcl 52
Hsa 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance of rvcl-s is age dependent; however, it is thought that all individuals with a heterozygous pathogenic trex1 variant will develop features of this condition if they live long enough.

Classifications:



Summaries for Retinal Vasculopathy with Cerebral Leukoencephalopathy and...

NIH Rare Diseases : 52 Hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS) is a rare genetic disease that affects the inner lining of the blood vessels. This lining is called the endothelium , and a disease that affects the endothelium is known as an endotheliopathy. Specifically, the parts of the body that are affected include the small blood vessels of the brain (microangiopathy), retina (vascular retinopathy ), and kidneys (nephropathy). Signs and symptoms may include progressive vision loss beginning in adulthood, psychiatric or neurological problems, an increased risk for a stroke , and kidney disease . Researchers have discovered that HERNS is caused by genetic changes (mutations or pathogenic variants) in the TREX1 gene . There are other diseases that are also caused by pathogenic variants in TREX1 . Two of these diseases are called cerebroretinal vasculopathy (CRV) and hereditary vascular retinopathy (HVR) . These diseases have similar signs and symptoms with varying severity. All of these diseases together are known as retinal vasculopathy with cerebral leukodystrophy (RVCL) . In many cases, the more general term RVCL is used to describe any of these diseases. HERNS is inherited in an autosomal dominant manner. Diagnosis is based on observing symptoms of the disease and can be confirmed with genetic testing . Treatment options for HERNS may be limited, but medications or procedures may help slow the progression of symptoms.

MalaCards based summary : Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations, also known as retinal vasculopathy with cerebral leukodystrophy, is related to hydrocephalus due to congenital stenosis of aqueduct of sylvius and vasculopathy, retinal, with cerebral leukodystrophy. An important gene associated with Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations is TREX1 (Three Prime Repair Exonuclease 1), and among its related pathways/superpathways is Cytosolic DNA-sensing pathway. The drugs Aclarubicin and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and retina, and related phenotypes are leukodystrophy and focal white matter lesions

KEGG : 36 Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare autosomal dominant microvascular endotheliopathy with middle-age onset. At around the age of 45, affected individuals may develop retinal and cerebral dysfunction. Death occurs in most cases within 10 years of the first symptoms appearing. The disease-causing mutations of TREX1 lead to truncation and abnormal localization of the 3'-5' exonuclease.

GeneReviews: NBK546576

Related Diseases for Retinal Vasculopathy with Cerebral Leukoencephalopathy and...

Diseases related to Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 396)
# Related Disease Score Top Affiliating Genes
1 hydrocephalus due to congenital stenosis of aqueduct of sylvius 12.1
2 vasculopathy, retinal, with cerebral leukodystrophy 12.1
3 headache associated with sexual activity 11.9
4 masa syndrome 11.9
5 hydrocephalus with stenosis of the aqueduct of sylvius 11.7
6 analbuminemia 11.2
7 hepatocellular carcinoma 10.5
8 gastric cancer 10.5
9 lung cancer 10.5
10 colorectal cancer 10.4
11 squamous cell carcinoma 10.4
12 small cell cancer of the lung 10.4
13 oral squamous cell carcinoma 10.4
14 polycystic kidney disease 10.4
15 bladder cancer 10.4
16 osteogenic sarcoma 10.4
17 cervical cancer 10.4
18 glioma 10.4
19 glial tumor 10.4
20 lung cancer susceptibility 3 10.3
21 hypothyroidism 10.3
22 raynaud phenomenon 10.3
23 kidney disease 10.3
24 adenocarcinoma 10.3
25 thrombotic microangiopathy 10.3
26 inguinal hernia 10.3
27 pancreatic cancer 10.3
28 glioblastoma multiforme 10.3
29 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 10.2
30 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 10.2
31 hepatitis e 10.2
32 systemic lupus erythematosus 10.2
33 migraine with or without aura 1 10.2
34 aphasia 10.2
35 cerebral artery occlusion 10.2
36 retinal ischemia 10.2
37 macular retinal edema 10.2
38 vascular dementia 10.2
39 scotoma 10.2
40 renal cell carcinoma, nonpapillary 10.2
41 ovarian cancer 10.2
42 lymphocytic leukemia 10.2
43 thyroid carcinoma 10.2
44 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.2
45 multiple sclerosis 10.2
46 vasculitis 10.2
47 autoimmune disease 10.1
48 esophageal cancer 10.1
49 hydrocephalus 10.1
50 pancreatic ductal adenocarcinoma 10.1

Graphical network of the top 20 diseases related to Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations:



Diseases related to Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations

Symptoms & Phenotypes for Retinal Vasculopathy with Cerebral Leukoencephalopathy and...

Human phenotypes related to Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 leukodystrophy 31 hallmark (90%) HP:0002415
2 focal white matter lesions 31 hallmark (90%) HP:0007042
3 seizures 31 frequent (33%) HP:0001250
4 dysarthria 31 frequent (33%) HP:0001260
5 behavioral abnormality 31 frequent (33%) HP:0000708
6 retinopathy 31 frequent (33%) HP:0000488
7 progressive visual loss 31 frequent (33%) HP:0000529
8 migraine 31 frequent (33%) HP:0002076
9 apraxia 31 frequent (33%) HP:0002186
10 mental deterioration 31 frequent (33%) HP:0001268
11 stroke 31 frequent (33%) HP:0001297
12 hemiparesis 31 frequent (33%) HP:0001269
13 abnormal retinal vascular morphology 31 frequent (33%) HP:0008046
14 ataxia 31 occasional (7.5%) HP:0001251
15 proteinuria 31 occasional (7.5%) HP:0000093
16 nephropathy 31 occasional (7.5%) HP:0000112
17 hematuria 31 occasional (7.5%) HP:0000790
18 glomerulopathy 31 occasional (7.5%) HP:0100820
19 sensory impairment 31 occasional (7.5%) HP:0003474
20 micronodular cirrhosis 31 occasional (7.5%) HP:0001413

Drugs & Therapeutics for Retinal Vasculopathy with Cerebral Leukoencephalopathy and...

Drugs for Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Study of Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy (RVCL) Active, not recruiting NCT02723448 Phase 1 aclarubicin

Search NIH Clinical Center for Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations

Genetic Tests for Retinal Vasculopathy with Cerebral Leukoencephalopathy and...

Anatomical Context for Retinal Vasculopathy with Cerebral Leukoencephalopathy and...

MalaCards organs/tissues related to Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations:

40
Brain, Kidney, Retina, Testes, Eye, Endothelial

Publications for Retinal Vasculopathy with Cerebral Leukoencephalopathy and...

Articles related to Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations:

(show all 36)
# Title Authors PMID Year
1
Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome. 52 24
15807828 2005
2
Systemic features of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a monogenic small vessel disease. 61 24
30411414 2019
3
Tumefactive lesions in retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations (RVCL-S): a role for neuroinflammation? 61 24
28794152 2017
4
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. 24 61
27604306 2016
5
DNase-active TREX1 frame-shift mutants induce serologic autoimmunity in mice. 24
28325644 2017
6
Hereditary cerebral small vessel disease and stroke. 52
28254515 2017
7
A synonymous variant in TREX1 is associated with systemic sclerosis and severe digital ischaemia. 24
27574969 2017
8
TREX1 Mutation in Leukodystrophy with Calcifications and Persistent Gadolinium-Enhancement. 24
28013302 2017
9
A 44-year-old man with eye, kidney, and brain dysfunction. 24
26691497 2016
10
Timing, rates and spectra of human germline mutation. 24
26656846 2016
11
Evolution of brain lesions in a patient with TREX1 cerebroretinal vasculopathy. 24
26527794 2015
12
Cytosolic Nuclease TREX1 Regulates Oligosaccharyltransferase Activity Independent of Nuclease Activity to Suppress Immune Activation. 24
26320659 2015
13
Human disease phenotypes associated with mutations in TREX1. 52
25731743 2015
14
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. 24
25213617 2015
15
Multiple sclerosis-like lesions and type I interferon signature in a patient with RVCL. 24
25566545 2015
16
Heterozygous TREX1 mutations in early-onset cerebrovascular disease. 24
23881107 2013
17
Novel ophthalmic pathology in an autopsy case of autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 24
21131853 2011
18
Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation. 24
20876473 2010
19
Migraine and genetic and acquired vasculopathies. 24
19689610 2009
20
The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. 24
18805785 2008
21
Hereditary systemic angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy. 24
18204807 2008
22
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 24
17660818 2007
23
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 24
17660820 2007
24
Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3'-->5' exonucleases. 24
10391904 1999
25
A human DNA editing enzyme homologous to the Escherichia coli DnaQ/MutD protein. 24
10393201 1999
26
Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon. 24
9549508 1998
27
A new autosomal dominant vascular retinopathy syndrome. 24
1821204 1991
28
Increased Mortality and Vascular Phenotype in a Knock-In Mouse Model of Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations. 61
31805844 2019
29
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations 61
31536185 2019
30
In Reply to 'TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD Is in Fact a Case of RVCL-S Presenting With Renal Features'. 61
30846257 2019
31
TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD Is in Fact a Case of RVCL-S Presenting With Renal Features. 61
30846258 2019
32
Magnetic Resonance Imaging Characteristics of Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. 61
30627749 2019
33
SUPERFICIAL AND DEEP CAPILLARY ISCHEMIA AS A PRESENTING SIGN OF RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS. 61
29028736 2018
34
RVCL-S and CADASIL display distinct impaired vascular function. 61
30076273 2018
35
Circulating Endothelial Markers in Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations. 61
29114091 2017
36
Defining retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. 61
29106489 2016

Variations for Retinal Vasculopathy with Cerebral Leukoencephalopathy and...

Expression for Retinal Vasculopathy with Cerebral Leukoencephalopathy and...

Search GEO for disease gene expression data for Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations.

Pathways for Retinal Vasculopathy with Cerebral Leukoencephalopathy and...

Pathways related to Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations according to KEGG:

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

GO Terms for Retinal Vasculopathy with Cerebral Leukoencephalopathy and...

Sources for Retinal Vasculopathy with Cerebral Leukoencephalopathy and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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