RVCLS
MCID: VSC063
MIFTS: 61

Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations (RVCLS)

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

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

Name: Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations 57 73
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations 11 24 58 28 5 75
Crv 57 11 24 19 73
Vasculopathy, Retinal, with Cerebral Leukodystrophy 12 43 38 71
Rvcl-S 11 24 19 58
Rvcl 11 24 19 58
Retinopathy, Vascular, with Cerebral and Renal Involvement and Raynaud and Migraine Phenomena 57 11 19
Retinal Vasculopathy and Cerebral Leukoencephalopathy 11 19 58
Retinal Vasculopathy with Cerebral Leukodystrophy 11 24 14
Cerebroretinal Vasculopathy, Hereditary 57 19
Hereditary Vascular Retinopathy 24 19
Cerebroretinal Vasculopathy 24 73
Rvcls 57 73
Herns 24 73
Hvr 24 19
Vascular Retinopathy with Cerebral and Renal Involvement and Raynaud and Migraine Phenomena 73
Retinal Vasculopathy with Cerebral Leukodystrophy with Systemic Manifestations 19
Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy 19
Hereditary Endotheliopathy with Retinopathy-Nephropathy-Stroke 73
Vasculopathy, Retinal, with Cerebral Leukodystrophy, Formerly 57
Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke 24
Hereditary Cerebroretinal Vasculopathy 11
Hereditary Systemic Angiopathy 24
Adrvcl 19
Hsa 24

Characteristics:


Inheritance:

Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations: Autosomal dominant 57
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations: Autosomal dominant 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
progressive disorder
onset in adulthood
death occurs 5 to 10 years after onset


HPO:

30
vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations:
Onset and clinical course progressive


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:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare systemic and rhumatological diseases


Summaries for Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and...

GARD: 19 Retinal vasculopathy with cerebral leukodystrophy and systemic manifestations (RVCL-S) affects the small blood vessels in the central nervous system and other organs. Symptoms begin in adulthood and can include loss of vision, Raynaud's disease, kidney and liver disease, and cognitive problems that get worse over time. Other symptoms may include migraines, gastrointestinal bleeding, and hypothyroidism. RVCL-S is caused by genetic variations in the TREX1 gene, and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies of the brain, and may be confirmed by the results of genetic testing.

MalaCards based summary: Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations, also known as retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, is related to aicardi-goutieres syndrome 1 and vascular dementia, and has symptoms including hemiparesis and seizures. An important gene associated with Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations is TREX1 (Three Prime Repair Exonuclease 1), and among its related pathways/superpathways are Cytosolic sensors of pathogen-associated DNA and Pathways of nucleic acid metabolism and innate immune sensing. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and brain, and related phenotypes are raynaud phenomenon and hypertension

UniProtKB/Swiss-Prot: 73 An adult-onset, autosomal dominant endotheliopathy affecting the microvessels of the brain. It results 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. A subset of patients have systemic vascular involvement that can manifest as Raynaud phenomenon, micronodular cirrhosis, and glomerular dysfunction.

OMIM®: 57 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLS) 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 phenomenon, micronodular cirrhosis, and glomerular dysfunction (summary by Richards et al., 2007). (192315) (Updated 08-Dec-2022)

Disease Ontology: 11 A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has material basis in heterozygous mutation in TREX1 on chromosome 3p21.31.

Wikipedia: 75 Retinal vasculopathy with cerebral leukocencephalopathy and systemic manifestations (RVCL or RVCL-S,... more...

GeneReviews: NBK546576

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

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

(show top 50) (show all 630)
# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 1 30.8 TREX1 ATRIP-TREX1 ATRIP
2 vascular dementia 30.7 TREX1 SERPINA3 NOTCH3 ATRIP-TREX1 ATRIP
3 familial chilblain lupus 30.6 TREX1 STING1 SAMHD1 ATRIP-TREX1 ATRIP
4 lupus erythematosus 30.5 TREX1 SAMHD1 IFIH1 DNASE1L3
5 chikungunya 30.1 STING1 IFIH1 CGAS
6 thrombotic microangiopathy 30.0 TREX1 ATRIP-TREX1 ATRIP
7 migraine with or without aura 1 29.9 TSPAN2 SERPINA3 NOTCH3 COL4A1
8 moyamoya disease 1 29.8 SERPINA3 SAMHD1 NOTCH3
9 cerebrovascular disease 29.7 SERPINA3 NOTCH3 HTRA1 COL4A1
10 interstitial lung disease 29.7 STING1 SERPINA3 IFIH1
11 aicardi-goutieres syndrome 29.6 TREX1 STING1 SAMHD1 RNASEH2C RNASEH2B RNASEH2A
12 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 29.5 TREX1 SERPINA3 NOTCH3 HTRA1 COL4A1 ATRIP-TREX1
13 chilblain lupus 1 29.4 TREX1 STING1 SAMHD1 RNASEH2C RNASEH2B RNASEH2A
14 microcephaly 29.4 TREX1 SAMHD1 RNASEH2C RNASEH2B RNASEH2A IFIH1
15 headache associated with sexual activity 11.3
16 analbuminemia 11.1
17 congenital disorder of glycosylation, type iic 11.1
18 cardiac valvular dysplasia, x-linked 11.0
19 orthostatic intolerance 11.0
20 leukodystrophy 10.6
21 raynaud disease 10.5
22 lung cancer 10.5
23 hepatocellular carcinoma 10.5
24 aphasia 10.4
25 colorectal cancer 10.4
26 glioma susceptibility 1 10.4
27 down syndrome 10.4
28 gastric cancer 10.4
29 small cell cancer of the lung 10.4
30 lung cancer susceptibility 3 10.4
31 adenocarcinoma 10.4
32 leukemia 10.4
33 familial porencephaly 10.3 COL4A2 COL4A1
34 breast cancer 10.3
35 cervical cancer 10.3
36 glioblastoma 10.3
37 glioma 10.3
38 glial tumor 10.3
39 aortic valve prolapse 10.3 COL4A2 COL4A1
40 brain small vessel disease 3 10.3 COL4A2 COL4A1
41 immunodeficiency 38 with basal ganglia calcification 10.3 RNASEH2C RNASEH2B RNASEH2A
42 visual cortex disease 10.3 RNASEH2C RNASEH2B RNASEH2A
43 transient neonatal neutropenia 10.3 RNASEH2C DNASE2
44 visual pathway disease 10.3 RNASEH2C RNASEH2B RNASEH2A
45 hyperparathyroidism 2 with jaw tumors 10.3
46 mild cognitive impairment 10.3
47 retinal ischemia 10.3
48 hypothyroidism 10.3
49 macular retinal edema 10.3
50 prostate cancer 10.3

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



Diseases related to Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations

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

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

58 30 (show top 50) (show all 75)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 raynaud phenomenon 58 30 Very rare (1%) Very frequent (99-80%)
HP:0030880
2 hypertension 58 30 Frequent (33%) Frequent (79-30%)
HP:0000822
3 proteinuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0000093
4 nephropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000112
5 brain imaging abnormality 58 30 Frequent (33%) Frequent (79-30%)
HP:0410263
6 abnormality of the hepatic vasculature 58 30 Frequent (33%) Frequent (79-30%)
HP:0006707
7 normocytic anemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001897
8 nodular regenerative hyperplasia of liver 58 30 Frequent (33%) Frequent (79-30%)
HP:0011954
9 normochromic anemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001895
10 compensated hypothyroidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0008223
11 elevated circulating alkaline phosphatase concentration 30 Frequent (33%) HP:0003155
12 elevated circulating creatinine concentration 30 Frequent (33%) HP:0003259
13 glomerular sclerosis 30 Frequent (33%) HP:0000096
14 elevated gamma-glutamyltransferase level 30 Frequent (33%) HP:0030948
15 depression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000716
16 cerebral calcification 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002514
17 anxiety 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000739
18 irritability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000737
19 glaucoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000501
20 gastrointestinal hemorrhage 58 30 Very rare (1%) Occasional (29-5%)
HP:0002239
21 sepsis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100806
22 memory impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002354
23 psychosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000709
24 cardiomyopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001638
25 pneumonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002090
26 weakness of facial musculature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030319
27 aphasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002381
28 hemiparesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001269
29 hemianopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012377
30 progressive neurologic deterioration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002344
31 apathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000741
32 generalized-onset seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002197
33 telangiectasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001009
34 macular edema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040049
35 retinal neovascularization 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030666
36 focal hypointensity of cerebral white matter on mri 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040331
37 migraine with aura 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002077
38 migraine without aura 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002083
39 retinal cotton wool spot 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031606
40 focal hyperintensity of cerebral white matter on mri 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040328
41 micronodular cirrhosis 30 Occasional (7.5%) HP:0001413
42 focal sensory seizure with somatosensory features 30 Occasional (7.5%) HP:0011163
43 migraine 58 30 Very rare (1%) Frequent (79-30%)
HP:0002076
44 skin rash 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000988
45 avascular necrosis of the capital femoral epiphysis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0005743
46 punctate vasculitis skin lesions 58 30 Very rare (1%) Very rare (<4-1%)
HP:0200030
47 seizure 30 Very rare (1%) HP:0001250
48 dementia 30 Very rare (1%) HP:0000726
49 behavioral abnormality 58 30 Frequent (79-30%)
HP:0000708
50 dysarthria 30 HP:0001260

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
dysarthria
stroke
migraine
central nervous system degeneration
hemiparesis
more
Head And Neck Eyes:
retinal hemorrhage
macular edema
retinal exudates
decreased visual acuity, progressive
retinal vasculopathy
more
Skin Nails Hair Skin:
punctate vasculitis skin lesions

Abdomen Gastrointestinal:
microscopic gastrointestinal bleeding

Neurologic Behavioral Psychiatric Manifestations:
psychiatric disturbances

Laboratory Abnormalities:
proteinuria
hematuria
abnormal liver enzymes

Cardiovascular Vascular:
raynaud phenomenon

Abdomen Liver:
micronodular cirrhosis (less common)

Genitourinary Kidneys:
glomerular dysfunction (variable)

Clinical features from OMIM®:

192315 (Updated 08-Dec-2022)

UMLS symptoms related to Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations:


hemiparesis; seizures

MGI Mouse Phenotypes related to Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.13 ADAR ATRIP COL4A1 COL4A2 DNASE2 HTRA1
2 cellular MP:0005384 10.03 ADAR ATRIP COL4A1 DNASE1L3 DNASE2 EXO1
3 immune system MP:0005387 10.03 ADAR CGAS COL4A1 COL4A2 DNASE2 EXO1
4 hematopoietic system MP:0005397 9.77 ADAR CGAS COL4A1 COL4A2 DNASE2 EXO1
5 mortality/aging MP:0010768 9.5 ADAR ATRIP CGAS COL4A1 COL4A2 DNASE2

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

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 2
2 Antibodies Phase 2
3
Aclarubicin Investigational Phase 1 57576-44-0
4 Anti-Bacterial Agents Phase 1
5 Adjuvants, Immunologic Phase 1
6 Aclacinomycins Phase 1
7 Antibiotics, Antitubercular Phase 1
8 Immunologic Factors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Trial of Crizanlizumab for the Treatment of Retinal Vasculopathy With Cerebral Leukoencephalopathy (RVCL) Active, not recruiting NCT04611880 Phase 2 Crizanlizumab
2 A Pilot Study of Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy (RVCL) Completed NCT02723448 Phase 1 aclarubicin

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

Cochrane evidence based reviews: vasculopathy, retinal, with cerebral leukodystrophy

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

Genetic tests related to Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations:

# Genetic test Affiliating Genes
1 Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations 28 TREX1

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

Organs/tissues related to Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations:

MalaCards : Retina, Eye, Brain, Bone, Liver, Kidney, Thyroid
ODiseA: Blood And Bone Marrow, Kidney

Publications for Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and...

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

(show top 50) (show all 145)
# Title Authors PMID Year
1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. 62 24 57 5
27604306 2016
2
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 62 24 57 5
17660820 2007
3
A new autosomal dominant vascular retinopathy syndrome. 24 57 5
1821204 1991
4
Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). 62 57 5
9371916 1997
5
Cerebroretinal vasculopathy. A new hereditary syndrome. 62 57 5
3174024 1988
6
A 44-year-old man with eye, kidney, and brain dysfunction. 62 24 5
26691497 2016
7
Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation. 62 24 57
20876473 2010
8
Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome. 62 24 57
15807828 2005
9
Heterozygous TREX1 mutations in early-onset cerebrovascular disease. 24 5
23881107 2013
10
The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. 24 5
18805785 2008
11
Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon. 24 57
9549508 1998
12
Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy. 62 57
32887784 2020
13
A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain. 62 5
23602593 2013
14
Evidence for systemic manifestations in cerebroretinal vasculopathy. 62 57
14608656 2003
15
Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. 62 57
11438888 2001
16
Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome. 62 57
10449133 1999
17
Systemic features of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a monogenic small vessel disease. 62 24
30411414 2019
18
Tumefactive lesions in retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations (RVCL-S): a role for neuroinflammation? 62 24
28794152 2017
19
DNase-active TREX1 frame-shift mutants induce serologic autoimmunity in mice. 62 24
28325644 2017
20
Inflammatory myopathy in a patient with Aicardi-Goutières syndrome. 5
28089741 2017
21
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis. 5
28750028 2017
22
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 5
26938784 2016
23
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. 5
27391121 2016
24
Clinical application of whole-exome sequencing across clinical indications. 5
26633542 2016
25
Evolution of brain lesions in a patient with TREX1 cerebroretinal vasculopathy. 62 24
26527794 2015
26
Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome. 5
26182405 2015
27
Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease. 5
25848017 2015
28
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. 62 24
25213617 2015
29
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 5
25604658 2015
30
Multiple sclerosis-like lesions and type I interferon signature in a patient with RVCL. 62 24
25566545 2015
31
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]. 5
25582466 2014
32
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study. 5
24300241 2014
33
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. 5
24183309 2013
34
The TREX1 C-terminal region controls cellular localization through ubiquitination. 5
23979357 2013
35
A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus. 5
23989343 2013
36
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. 5
22829693 2013
37
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. 5
21937424 2011
38
Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. 5
21270825 2011
39
Novel ophthalmic pathology in an autopsy case of autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 62 24
21131853 2011
40
The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1. 5
20871604 2010
41
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 5
20799324 2010
42
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 5
20131292 2010
43
Migraine and genetic and acquired vasculopathies. 62 24
19689610 2009
44
Hereditary systemic angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy. 62 24
18204807 2008
45
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 5
17846997 2007
46
A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. 5
17440703 2007
47
The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering. 5
17293595 2007
48
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 5
16845398 2006
49
Hereditary retinal vasculopathy with cerebral white matter lesions. 57
2817001 1989
50
A synonymous variant in TREX1 is associated with systemic sclerosis and severe digital ischaemia. 24
27574969 2017

Variations for Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and...

ClinVar genetic disease variations for Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations:

5 (show top 50) (show all 270)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.703_706dup (p.Thr236fs) DUP Pathogenic
4187 rs1560113283 GRCh37: 3:48508756-48508757
GRCh38: 3:48467357-48467358
2 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.703dup (p.Val235fs) DUP Pathogenic
Pathogenic
449514 rs1553820434 GRCh37: 3:48508753-48508754
GRCh38: 3:48467354-48467355
3 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.294dup (p.Cys99fs) DUP Pathogenic
225499 rs760594164 GRCh37: 3:48508346-48508347
GRCh38: 3:48466947-48466948
4 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) MICROSAT Pathogenic
839889 rs1331920811 GRCh37: 3:48508280-48508281
GRCh38: 3:48466881-48466882
5 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.236_243del (p.Pro79fs) MICROSAT Pathogenic
850507 rs1331920811 GRCh37: 3:48508281-48508288
GRCh38: 3:48466882-48466889
6 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.23dup (p.Pro10fs) DUP Pathogenic
953494 rs781731683 GRCh37: 3:48508072-48508073
GRCh38: 3:48466673-48466674
7 overlap with 64 genes NC_000003.11:g.(?_48507870)_(50340407_?)del DEL Pathogenic
1068732 GRCh37: 3:48507870-50340407
GRCh38:
8 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.403C>T (p.Gln135Ter) SNV Pathogenic
1069131 GRCh37: 3:48508457-48508457
GRCh38: 3:48467058-48467058
9 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) DUP Pathogenic
1069943 GRCh37: 3:48508175-48508176
GRCh38: 3:48466776-48466777
10 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.144del (p.Thr49fs) DEL Pathogenic
1216160 GRCh37: 3:48508192-48508192
GRCh38: 3:48466793-48466793
11 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.212_213del (p.Val71fs) MICROSAT Pathogenic
209199 rs74689946 GRCh37: 3:48508260-48508261
GRCh38: 3:48466861-48466862
12 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.5del (p.Gly2fs) DEL Pathogenic
1455316 GRCh37: 3:48508057-48508057
GRCh38: 3:48466658-48466658
13 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.296_299dup (p.Phe100fs) DUP Pathogenic
1433355 GRCh37: 3:48508348-48508349
GRCh38: 3:48466949-48466950
14 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.153_166del (p.Gln51fs) DEL Pathogenic
1430592 GRCh37: 3:48508205-48508218
GRCh38: 3:48466806-48466819
15 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.399dup (p.Leu134fs) DUP Pathogenic
1457024 GRCh37: 3:48508452-48508453
GRCh38: 3:48467053-48467054
16 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.357G>A (p.Trp119Ter) SNV Pathogenic
1458091 GRCh37: 3:48508411-48508411
GRCh38: 3:48467012-48467012
17 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) DUP Pathogenic
126386 rs77371662 GRCh37: 3:48508419-48508420
GRCh38: 3:48467020-48467021
18 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) SNV Pathogenic
4180 rs78218009 GRCh37: 3:48508544-48508544
GRCh38: 3:48467145-48467145
19 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.144dup (p.Thr49fs) DUP Pathogenic
282766 rs748914604 GRCh37: 3:48508191-48508192
GRCh38: 3:48466792-48466793
20 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) DEL Pathogenic
126393 rs79318303 GRCh37: 3:48508913-48508930
GRCh38: 3:48467514-48467531
21 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.58dup (p.Glu20fs) DUP Pathogenic
126390 rs78300695 GRCh37: 3:48508110-48508111
GRCh38: 3:48466711-48466712
22 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) SNV Pathogenic
4185 rs121908117 GRCh37: 3:48508106-48508106
GRCh38: 3:48466707-48466707
23 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.341G>A (p.Arg114His) SNV Pathogenic
Benign
4179 rs72556554 GRCh37: 3:48508395-48508395
GRCh38: 3:48466996-48466996
24 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) DUP Likely Pathogenic
4181 rs74556809 GRCh37: 3:48508650-48508651
GRCh38: 3:48467251-48467252
25 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.416del (p.Ala139fs) DEL Likely Pathogenic
Likely Pathogenic
843202 rs763229085 GRCh37: 3:48508470-48508470
GRCh38: 3:48467071-48467071
26 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.621_622del (p.Ile207fs) DEL Likely Pathogenic
Uncertain Significance
1333993 GRCh37: 3:48508674-48508675
GRCh38: 3:48467275-48467276
27 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.858dup (p.Leu287fs) DUP Likely Pathogenic
1477050 GRCh37: 3:48508908-48508909
GRCh38: 3:48467509-48467510
28 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.796G>T (p.Glu266Ter) SNV Likely Pathogenic
835524 rs757478752 GRCh37: 3:48508850-48508850
GRCh38: 3:48467451-48467451
29 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) SNV Likely Pathogenic
Uncertain Significance
209198 rs760838030 GRCh37: 3:48508394-48508394
GRCh38: 3:48466995-48466995
30 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.814del (p.Asp272fs) DEL Likely Pathogenic
1678574 GRCh37: 3:48508867-48508867
GRCh38: 3:48467468-48467468
31 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) SNV Likely Pathogenic
535846 rs1553820518 GRCh37: 3:48508883-48508883
GRCh38: 3:48467484-48467484
32 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.219G>A (p.Pro73=) SNV Uncertain Significance
448703 rs778992418 GRCh37: 3:48508273-48508273
GRCh38: 3:48466874-48466874
33 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.338G>A (p.Arg113Gln) SNV Uncertain Significance
571633 rs201496629 GRCh37: 3:48508392-48508392
GRCh38: 3:48466993-48466993
34 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.690G>C (p.Arg230Ser) SNV Uncertain Significance
575190 rs55691060 GRCh37: 3:48508744-48508744
GRCh38: 3:48467345-48467345
35 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.803G>C (p.Arg268Thr) SNV Uncertain Significance
899409 rs2040380664 GRCh37: 3:48508857-48508857
GRCh38: 3:48467458-48467458
36 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.-100C>T SNV Uncertain Significance
345768 rs886058623 GRCh37: 3:48507635-48507635
GRCh38: 3:48466236-48466236
37 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.-50CTGC[4] MICROSAT Uncertain Significance
345771 rs371036312 GRCh37: 3:48507685-48507688
GRCh38: 3:48466286-48466289
38 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) SNV Uncertain Significance
586842 rs112741962 GRCh37: 3:48508793-48508793
GRCh38: 3:48467394-48467394
39 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.623G>C (p.Cys208Ser) SNV Uncertain Significance
570429 rs146524913 GRCh37: 3:48508677-48508677
GRCh38: 3:48467278-48467278
40 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.869C>T (p.Pro290Leu) SNV Uncertain Significance
576299 rs148833270 GRCh37: 3:48508923-48508923
GRCh38: 3:48467524-48467524
41 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.251T>C (p.Ile84Thr) SNV Uncertain Significance
651268 rs748535974 GRCh37: 3:48508305-48508305
GRCh38: 3:48466906-48466906
42 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.640G>A (p.Ala214Thr) SNV Uncertain Significance
652641 rs1575293697 GRCh37: 3:48508694-48508694
GRCh38: 3:48467295-48467295
43 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.418A>G (p.Met140Val) SNV Uncertain Significance
Uncertain Significance
345777 rs761526437 GRCh37: 3:48508472-48508472
GRCh38: 3:48467073-48467073
44 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.734C>G (p.Pro245Arg) SNV Uncertain Significance
662525 rs1560113388 GRCh37: 3:48508788-48508788
GRCh38: 3:48467389-48467389
45 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.784C>T (p.Pro262Ser) SNV Uncertain Significance
665857 rs867148059 GRCh37: 3:48508838-48508838
GRCh38: 3:48467439-48467439
46 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.899C>T (p.Ala300Val) SNV Uncertain Significance
467832 rs1553820567 GRCh37: 3:48508953-48508953
GRCh38: 3:48467554-48467554
47 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.382C>T (p.Arg128Cys) SNV Uncertain Significance
535847 rs199614534 GRCh37: 3:48508436-48508436
GRCh38: 3:48467037-48467037
48 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.587C>T (p.Thr196Met) SNV Uncertain Significance
535848 rs754998766 GRCh37: 3:48508641-48508641
GRCh38: 3:48467242-48467242
49 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.24G>A (p.Pro8=) SNV Uncertain Significance
844413 rs147463121 GRCh37: 3:48508078-48508078
GRCh38: 3:48466679-48466679
50 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.191T>C (p.Val64Ala) SNV Uncertain Significance
845321 rs763056226 GRCh37: 3:48508245-48508245
GRCh38: 3:48466846-48466846

Expression for Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and...

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

Pathways for Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and...

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

Cellular components related to Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen type IV trimer GO:0005587 9.26 COL4A2 COL4A1
2 ribonuclease H2 complex GO:0032299 9.1 RNASEH2C RNASEH2B RNASEH2A

Biological processes related to Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 10.3 TREX1 STING1 SAMHD1 IFIH1 CGAS ADAR
2 DNA repair GO:0006281 10.15 TREX1 SAMHD1 EXO1 CGAS ATRIP
3 cellular response to DNA damage stimulus GO:0006974 10.13 TREX1 SAMHD1 EXO1 CGAS ATRIP
4 defense response to virus GO:0051607 10.1 ADAR CGAS IFIH1 SAMHD1 STING1 TREX1
5 immune system process GO:0002376 9.93 STING1 SAMHD1 IFIH1 EXO1 CGAS ADAR
6 RNA catabolic process GO:0006401 9.91 RNASEH2A RNASEH2B RNASEH2C
7 somatic hypermutation of immunoglobulin genes GO:0016446 9.88 SAMHD1 EXO1
8 negative regulation of type I interferon-mediated signaling pathway GO:0060339 9.88 TREX1 SAMHD1 ADAR
9 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.87 COL4A2 COL4A1
10 apoptotic DNA fragmentation GO:0006309 9.85 DNASE1L3 DNASE2
11 cellular response to exogenous dsRNA GO:0071360 9.85 STING1 IFIH1 CGAS
12 regulation of T cell activation GO:0050863 9.84 CGAS TREX1
13 DNA metabolic process GO:0006259 9.8 TREX1 EXO1 DNASE2 DNASE1L3
14 regulation of immunoglobulin production GO:0002637 9.78 TREX1 CGAS
15 DNA catabolic process, endonucleolytic GO:0000737 9.7 DNASE2 DNASE1L3
16 regulation of type I interferon production GO:0032479 9.69 TREX1 CGAS
17 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.61 TREX1 RNASEH2A EXO1 DNASE2 DNASE1L3 ATRIP
18 DNA catabolic process GO:0006308 9.46 TREX1 DNASE2 DNASE1L3
19 mismatch repair GO:0006298 9.32 TREX1 RNASEH2C RNASEH2B RNASEH2A EXO1

Molecular functions related to Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA-DNA hybrid ribonuclease activity GO:0004523 9.62 EXO1 RNASEH2A
2 hydrolase activity GO:0016787 9.61 TREX1 SAMHD1 RNASEH2A IFIH1 HTRA1 EXO1
3 exonuclease activity GO:0004527 9.56 TREX1 EXO1 ATRIP
4 endonuclease activity GO:0004519 9.46 RNASEH2A EXO1 DNASE2 DNASE1L3
5 endodeoxyribonuclease activity GO:0004520 9.37 DNASE2 DNASE1L3
6 nuclease activity GO:0004518 9.02 TREX1 RNASEH2A EXO1 DNASE2 DNASE1L3

Sources for Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
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36 LifeMap
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43 MeSH
44 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
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70 Tocris
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72 UMLS via Orphanet
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