RVCLS
MCID: VSC063
MIFTS: 57

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

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

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
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations 12 25 58 29 6
Vasculopathy, Retinal, with Cerebral Leukodystrophy 73 13 44 39
Retinal Vasculopathy with Cerebral Leukodystrophy 12 25 36 15
Rvcl 12 25 58 73
Crv 57 12 25 73
Rvcl-S 12 25 58
Retinopathy, Vascular, with Cerebral and Renal Involvement and Raynaud and Migraine Phenomena 57 12
Retinal Vasculopathy and Cerebral Leukoencephalopathy 12 58
Hereditary Vascular Retinopathy 25 20
Cerebroretinal Vasculopathy 25 73
Herns 25 73
Hvr 25 20
Vascular Retinopathy with Cerebral and Renal Involvement and Raynaud and Migraine Phenomena 73
Hereditary Endotheliopathy with Retinopathy-Nephropathy-Stroke 73
Vasculopathy, Retinal, with Cerebral Leukodystrophy, Formerly 57
Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke 25
Cerebroretinal Vasculopathy, Hereditary; Crv 57
Cerebroretinal Vasculopathy, Hereditary 57
Hereditary Cerebroretinal Vasculopathy 12
Hereditary Systemic Angiopathy 25
Rvcls 57
Hsa 25

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

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


GeneReviews:

25
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...

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 05-Mar-2021)

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 leukodystrophy and microcephaly, and has symptoms including seizures and hemiparesis. 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 DNA-sensing pathway and Cytosolic sensors of pathogen-associated DNA. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and brain, and related phenotypes are raynaud phenomenon and hypertension

Disease Ontology : 12 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.

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.

UniProtKB/Swiss-Prot : 73 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.

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 459)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy 30.6 TREX1 SAMHD1 RNASEH2C RNASEH2B RNASEH2A NOTCH3
2 microcephaly 29.4 TREX1 SAMHD1 RNASEH2C RNASEH2B RNASEH2A IFIH1
3 cerebrovascular disease 29.4 SERPINA3 NOTCH3 HTRA1 COL4A1
4 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 29.1 SERPINA3 NOTCH3 HTRA1 COL4A2 COL4A1
5 aicardi-goutieres syndrome 28.8 TREX1 STING1 SAMHD1 RNASEH2C RNASEH2B RNASEH2A
6 headache associated with sexual activity 11.3
7 retinal vasculopathy with cerebral leukodystrophy with systemic manifestations 11.3
8 analbuminemia 10.9
9 hypothyroidism 10.4
10 raynaud phenomenon 10.4
11 lung cancer 10.4
12 small cell cancer of the lung 10.3
13 type 1 interferonopathy 10.3 TREX1 SAMHD1
14 hepatocellular carcinoma 10.3
15 lung cancer susceptibility 3 10.3
16 cervical cancer 10.3
17 aphasia 10.3
18 mild cognitive impairment 10.3
19 retinal ischemia 10.3
20 macular retinal edema 10.3
21 vascular dementia 10.3
22 scotoma 10.3
23 breast cancer 10.3
24 gastric cancer 10.3
25 adenocarcinoma 10.3
26 glioma 10.3
27 glial tumor 10.3
28 prostate cancer 10.3
29 squamous cell carcinoma 10.3
30 immunodeficiency 38 with basal ganglia calcification 10.2 RNASEH2C RNASEH2B RNASEH2A
31 basal ganglia calcification 10.2 RNASEH2C RNASEH2B RNASEH2A
32 glioblastoma 10.2
33 visual cortex disease 10.2 RNASEH2C RNASEH2B RNASEH2A
34 visual pathway disease 10.2 RNASEH2C RNASEH2B RNASEH2A
35 familial chilblain lupus 10.2 TREX1 STING1 SAMHD1
36 colorectal cancer 10.2
37 acquired porencephaly 10.2 COL4A2 COL4A1
38 bladder cancer 10.2
39 osteogenic sarcoma 10.2
40 arteriolosclerosis 10.2 SERPINA3 NOTCH3
41 polycystic kidney disease 10.2
42 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 10.2 COL4A2 COL4A1
43 renal cell carcinoma, nonpapillary 10.2
44 pancreatic cancer 10.2
45 leukemia 10.2
46 brain small vessel disease 1 with or without ocular anomalies 10.2 COL4A2 COL4A1
47 focal segmental glomerulosclerosis 10.2
48 col4a1-related disorders 10.2
49 ovarian cancer 10.2
50 cerebral degeneration 10.1 SERPINA3 NOTCH3 COL4A1

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 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 raynaud phenomenon 58 31 hallmark (90%) Very frequent (99-80%) HP:0030880
2 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
3 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
4 nephropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000112
5 brain imaging abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0410263
6 abnormality of the hepatic vasculature 58 31 frequent (33%) Frequent (79-30%) HP:0006707
7 normocytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001897
8 elevated alkaline phosphatase 58 31 frequent (33%) Frequent (79-30%) HP:0003155
9 elevated serum creatinine 58 31 frequent (33%) Frequent (79-30%) HP:0003259
10 nodular regenerative hyperplasia of liver 58 31 frequent (33%) Frequent (79-30%) HP:0011954
11 normochromic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001895
12 compensated hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0008223
13 glomerular sclerosis 31 frequent (33%) HP:0000096
14 elevated gamma-glutamyltransferase level 31 frequent (33%) HP:0030948
15 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
16 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
17 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
18 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
19 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
20 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
21 sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100806
22 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
23 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
24 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
25 pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002090
26 aphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002381
27 hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001269
28 hemianopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012377
29 progressive neurologic deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002344
30 apathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000741
31 generalized-onset seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002197
32 telangiectasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001009
33 macular edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0040049
34 weakness of facial musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0030319
35 retinal neovascularization 58 31 occasional (7.5%) Occasional (29-5%) HP:0030666
36 focal hypointensity of cerebral white matter on mri 58 31 occasional (7.5%) Occasional (29-5%) HP:0040331
37 migraine with aura 58 31 occasional (7.5%) Occasional (29-5%) HP:0002077
38 migraine without aura 58 31 occasional (7.5%) Occasional (29-5%) HP:0002083
39 retinal cotton wool spot 58 31 occasional (7.5%) Occasional (29-5%) HP:0031606
40 focal hyperintensity of cerebral white matter on mri 58 31 occasional (7.5%) Occasional (29-5%) HP:0040328
41 micronodular cirrhosis 31 occasional (7.5%) HP:0001413
42 focal sensory seizure with somatosensory features 31 occasional (7.5%) HP:0011163
43 skin rash 58 31 very rare (1%) Very rare (<4-1%) HP:0000988
44 avascular necrosis of the capital femoral epiphysis 58 31 very rare (1%) Very rare (<4-1%) HP:0005743
45 punctate vasculitis skin lesions 58 31 very rare (1%) Very rare (<4-1%) HP:0200030
46 behavioral abnormality 58 31 Frequent (79-30%) HP:0000708
47 migraine 58 31 Frequent (79-30%) HP:0002076
48 dysarthria 31 HP:0001260
49 visual impairment 31 HP:0000505
50 cognitive impairment 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
dysarthria
stroke
migraine
central nervous system degeneration
more
Head And Neck Eyes:
retinal hemorrhage
macular edema
retinal exudates
retinal vasculopathy
decreased visual acuity, progressive
more
Skin Nails Hair Skin:
punctate vasculitis skin lesions

Genitourinary Kidneys:
glomerular dysfunction (variable)

Laboratory Abnormalities:
proteinuria
hematuria
abnormal liver enzymes

Cardiovascular Vascular:
raynaud phenomenon

Abdomen Liver:
micronodular cirrhosis (less common)

Neurologic Behavioral Psychiatric Manifestations:
psychiatric disturbances

Clinical features from OMIM®:

192315 (Updated 05-Mar-2021)

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


seizures, hemiparesis

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 ADAR ATRIP COL4A1 DNASE1L3 EXO1 IFIH1
2 growth/size/body region MP:0005378 10.03 ADAR ATRIP COL4A1 COL4A2 HTRA1 IFIH1
3 hematopoietic system MP:0005397 9.9 ADAR CGAS COL4A1 COL4A2 EXO1 IFIH1
4 immune system MP:0005387 9.77 ADAR CGAS COL4A1 COL4A2 EXO1 IFIH1
5 mortality/aging MP:0010768 9.47 ADAR ATRIP CGAS COL4A1 COL4A2 EXO1

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 451415
4 Antibiotics, Antitubercular Phase 1
5 Aclacinomycins Phase 1
6 Adjuvants, Immunologic Phase 1
7 Immunologic Factors Phase 1
8 Anti-Bacterial Agents 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) 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 29 TREX1

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

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

40
Eye, Liver, Brain, Kidney, Endothelial

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

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

(show all 41)
# Title Authors PMID Year
1
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 57 25 6
17660820 2007
2
A new autosomal dominant vascular retinopathy syndrome. 57 6 25
1821204 1991
3
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. 57 61 25
27604306 2016
4
Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). 57 6
9371916 1997
5
Cerebroretinal vasculopathy. A new hereditary syndrome. 6 57
3174024 1988
6
Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation. 25 57
20876473 2010
7
Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome. 57 25
15807828 2005
8
Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon. 25 57
9549508 1998
9
Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy. 61 57
32887784 2020
10
Systemic features of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a monogenic small vessel disease. 25 61
30411414 2019
11
Evidence for systemic manifestations in cerebroretinal vasculopathy. 57
14608656 2003
12
Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. 57
11438888 2001
13
Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome. 57
10449133 1999
14
Hereditary retinal vasculopathy with cerebral white matter lesions. 57
2817001 1989
15
Tumefactive lesions in retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations (RVCL-S): a role for neuroinflammation? 25
28794152 2017
16
DNase-active TREX1 frame-shift mutants induce serologic autoimmunity in mice. 25
28325644 2017
17
TREX1 Mutation in Leukodystrophy with Calcifications and Persistent Gadolinium-Enhancement. 25
28013302 2017
18
A synonymous variant in TREX1 is associated with systemic sclerosis and severe digital ischaemia. 25
27574969 2017
19
A 44-year-old man with eye, kidney, and brain dysfunction. 25
26691497 2016
20
Timing, rates and spectra of human germline mutation. 25
26656846 2016
21
Evolution of brain lesions in a patient with TREX1 cerebroretinal vasculopathy. 25
26527794 2015
22
Cytosolic Nuclease TREX1 Regulates Oligosaccharyltransferase Activity Independent of Nuclease Activity to Suppress Immune Activation. 25
26320659 2015
23
Multiple sclerosis-like lesions and type I interferon signature in a patient with RVCL. 25
25566545 2015
24
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. 25
25213617 2015
25
Heterozygous TREX1 mutations in early-onset cerebrovascular disease. 25
23881107 2013
26
Novel ophthalmic pathology in an autopsy case of autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 25
21131853 2011
27
Migraine and genetic and acquired vasculopathies. 25
19689610 2009
28
The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. 25
18805785 2008
29
Hereditary systemic angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy. 25
18204807 2008
30
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 25
17660818 2007
31
Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3'-->5' exonucleases. 25
10391904 1999
32
A human DNA editing enzyme homologous to the Escherichia coli DnaQ/MutD protein. 25
10393201 1999
33
High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S). 61
33516249 2021
34
TREX1-associated retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. 61
33068072 2020
35
Magnetic Resonance Imaging Characteristics of Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. 61
30627749 2020
36
Increased Mortality and Vascular Phenotype in a Knock-In Mouse Model of Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations. 61
31805844 2020
37
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations 61
31536185 2019
38
SUPERFICIAL AND DEEP CAPILLARY ISCHEMIA AS A PRESENTING SIGN OF RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS. 61
29028736 2018
39
RVCL-S and CADASIL display distinct impaired vascular function. 61
30076273 2018
40
Circulating Endothelial Markers in Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations. 61
29114091 2017
41
Defining retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. 61
29106489 2016

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

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

6 (show top 50) (show all 108)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATRIP NM_033629.6(TREX1):c.703dup (p.Val235fs) Duplication Pathogenic 449514 rs1553820434 3:48508753-48508754 3:48467354-48467355
2 ATRIP NM_033629.6(TREX1):c.703_706dup (p.Thr236fs) Duplication Pathogenic 4187 rs1560113283 3:48508756-48508757 3:48467357-48467358
3 ATRIP NM_033629.6(TREX1):c.703dup (p.Val235fs) Duplication Pathogenic 449514 rs1553820434 3:48508753-48508754 3:48467354-48467355
4 ATRIP NM_033629.6(TREX1):c.341G>A (p.Arg114His) SNV Pathogenic 4179 rs72556554 3:48508395-48508395 3:48466996-48466996
5 ATRIP NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) Duplication Pathogenic 126386 rs77371662 3:48508419-48508420 3:48467020-48467021
6 ATRIP NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) Deletion Pathogenic 126393 rs79318303 3:48508913-48508930 3:48467514-48467531
7 ATRIP NM_033629.6(TREX1):c.294dup (p.Cys99fs) Duplication Pathogenic 225499 rs760594164 3:48508346-48508347 3:48466947-48466948
8 ATRIP NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) SNV Pathogenic 4185 rs121908117 3:48508106-48508106 3:48466707-48466707
9 ATRIP NM_033629.6(TREX1):c.228_235CTGCAGCC[3] (p.Ser82fs) Microsatellite Pathogenic 839889 3:48508280-48508281 3:48466881-48466882
10 ATRIP NM_033629.6(TREX1):c.228_235CTGCAGCC[1] (p.Pro79fs) Microsatellite Pathogenic 850507 3:48508281-48508288 3:48466882-48466889
11 ATRIP NM_033629.6(TREX1):c.23dup (p.Pro10fs) Duplication Pathogenic 953494 3:48508072-48508073 3:48466673-48466674
12 ATRIP NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) Duplication Likely pathogenic 4181 rs74556809 3:48508650-48508651 3:48467251-48467252
13 ATRIP NM_033629.6(TREX1):c.796G>T (p.Glu266Ter) SNV Likely pathogenic 835524 3:48508850-48508850 3:48467451-48467451
14 ATRIP NM_033629.6(TREX1):c.416del (p.Ala139fs) Deletion Likely pathogenic 843202 3:48508470-48508470 3:48467071-48467071
15 ATRIP NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) SNV Likely pathogenic 209198 rs760838030 3:48508394-48508394 3:48466995-48466995
16 ATRIP NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) SNV Likely pathogenic 535846 rs1553820518 3:48508883-48508883 3:48467484-48467484
17 ATRIP NM_033629.6(TREX1):c.382C>T (p.Arg128Cys) SNV Uncertain significance 535847 rs199614534 3:48508436-48508436 3:48467037-48467037
18 ATRIP NM_033629.6(TREX1):c.587C>T (p.Thr196Met) SNV Uncertain significance 535848 rs754998766 3:48508641-48508641 3:48467242-48467242
19 ATRIP NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) SNV Uncertain significance 126394 rs76224909 3:48508961-48508961 3:48467562-48467562
20 ATRIP NM_033629.6(TREX1):c.219G>A (p.Pro73=) SNV Uncertain significance 448703 rs778992418 3:48508273-48508273 3:48466874-48466874
21 ATRIP NM_033629.6(TREX1):c.623G>C (p.Cys208Ser) SNV Uncertain significance 570429 rs146524913 3:48508677-48508677 3:48467278-48467278
22 ATRIP NM_033629.6(TREX1):c.338G>A (p.Arg113Gln) SNV Uncertain significance 571633 rs201496629 3:48508392-48508392 3:48466993-48466993
23 ATRIP NM_033629.6(TREX1):c.690G>C (p.Arg230Ser) SNV Uncertain significance 575190 rs55691060 3:48508744-48508744 3:48467345-48467345
24 ATRIP NM_033629.6(TREX1):c.869C>T (p.Pro290Leu) SNV Uncertain significance 576299 rs148833270 3:48508923-48508923 3:48467524-48467524
25 ATRIP NM_033629.6(TREX1):c.536T>C (p.Leu179Pro) SNV Uncertain significance 345779 rs886058625 3:48508590-48508590 3:48467191-48467191
26 ATRIP NM_130384.3(ATRIP):c.*495C>T SNV Uncertain significance 345763 rs377157141 3:48507448-48507448 3:48466049-48466049
27 ATRIP NM_130384.3(ATRIP):c.*655G>C SNV Uncertain significance 345766 rs577465983 3:48507608-48507608 3:48466209-48466209
28 ATRIP NM_130384.3(ATRIP):c.*583A>G SNV Uncertain significance 345765 rs767364235 3:48507536-48507536 3:48466137-48466137
29 ATRIP NM_033629.6(TREX1):c.-100C>T SNV Uncertain significance 345768 rs886058623 3:48507635-48507635 3:48466236-48466236
30 ATRIP NM_033629.6(TREX1):c.-50_-47CTGC[4] Microsatellite Uncertain significance 345771 rs371036312 3:48507685-48507688 3:48466286-48466289
31 ATRIP NM_130384.3(ATRIP):c.*576G>T SNV Uncertain significance 345764 rs886058622 3:48507529-48507529 3:48466130-48466130
32 ATRIP NM_033629.6(TREX1):c.418A>G (p.Met140Val) SNV Uncertain significance 345777 rs761526437 3:48508472-48508472 3:48467073-48467073
33 ATRIP NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) SNV Uncertain significance 522920 rs755919767 3:48508272-48508272 3:48466873-48466873
34 ATRIP NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) SNV Uncertain significance 374471 rs769885715 3:48508977-48508977 3:48467578-48467578
35 ATRIP NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) SNV Uncertain significance 586842 rs112741962 3:48508793-48508793 3:48467394-48467394
36 ATRIP NM_033629.6(TREX1):c.250A>G (p.Ile84Val) SNV Uncertain significance 647120 rs775075513 3:48508304-48508304 3:48466905-48466905
37 ATRIP NM_033629.6(TREX1):c.899C>T (p.Ala300Val) SNV Uncertain significance 467832 rs1553820567 3:48508953-48508953 3:48467554-48467554
38 ATRIP NM_033629.6(TREX1):c.24G>A (p.Pro8=) SNV Uncertain significance 844413 3:48508078-48508078 3:48466679-48466679
39 ATRIP NM_033629.6(TREX1):c.191T>C (p.Val64Ala) SNV Uncertain significance 845321 3:48508245-48508245 3:48466846-48466846
40 ATRIP NM_033629.6(TREX1):c.247G>A (p.Glu83Lys) SNV Uncertain significance 847510 3:48508301-48508301 3:48466902-48466902
41 ATRIP NM_033629.6(TREX1):c.679G>A (p.Gly227Ser) SNV Uncertain significance 586840 rs113107733 3:48508733-48508733 3:48467334-48467334
42 ATRIP NM_033629.6(TREX1):c.142_144del (p.Pro48del) Deletion Uncertain significance 841338 3:48508192-48508194 3:48466793-48466795
43 ATRIP NM_033629.6(TREX1):c.734C>G (p.Pro245Arg) SNV Uncertain significance 662525 rs1560113388 3:48508788-48508788 3:48467389-48467389
44 ATRIP NM_033629.6(TREX1):c.784C>T (p.Pro262Ser) SNV Uncertain significance 665857 rs867148059 3:48508838-48508838 3:48467439-48467439
45 ATRIP NM_033629.6(TREX1):c.427C>G (p.Leu143Val) SNV Uncertain significance 835233 3:48508481-48508481 3:48467082-48467082
46 ATRIP NM_033629.6(TREX1):c.251T>C (p.Ile84Thr) SNV Uncertain significance 651268 rs748535974 3:48508305-48508305 3:48466906-48466906
47 ATRIP NM_033629.6(TREX1):c.640G>A (p.Ala214Thr) SNV Uncertain significance 652641 rs1575293697 3:48508694-48508694 3:48467295-48467295
48 ATRIP NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) SNV Uncertain significance 374471 rs769885715 3:48508977-48508977 3:48467578-48467578
49 ATRIP NM_033629.6(TREX1):c.418A>G (p.Met140Val) SNV Uncertain significance 345777 rs761526437 3:48508472-48508472 3:48467073-48467073
50 ATRIP NM_033629.6(TREX1):c.935C>G (p.Pro312Arg) SNV Uncertain significance 861671 3:48508989-48508989 3:48467590-48467590

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...

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

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

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 nucleus GO:0005634 10 ZNF621 TREX1 SERPINA3 SAMHD1 RNASEH2C RNASEH2B
2 collagen-containing extracellular matrix GO:0062023 9.56 SERPINA3 HTRA1 COL4A2 COL4A1
3 collagen type IV trimer GO:0005587 8.96 COL4A2 COL4A1
4 ribonuclease H2 complex GO:0032299 8.8 RNASEH2C RNASEH2B RNASEH2A

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 10.03 STING1 SAMHD1 IFIH1 EXO1 CGAS ADAR
2 cellular response to DNA damage stimulus GO:0006974 9.97 TREX1 SAMHD1 EXO1 CGAS ATRIP
3 innate immune response GO:0045087 9.95 TREX1 STING1 SAMHD1 IFIH1 CGAS ADAR
4 DNA repair GO:0006281 9.89 TREX1 SAMHD1 EXO1 CGAS ATRIP
5 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.71 RNASEH2B RNASEH2A EXO1
6 type I interferon signaling pathway GO:0060337 9.7 TREX1 SAMHD1 ADAR
7 cellular response to interferon-beta GO:0035458 9.61 TREX1 STING1
8 regulation of innate immune response GO:0045088 9.61 TREX1 SAMHD1
9 mismatch repair GO:0006298 9.61 TREX1 RNASEH2A EXO1
10 determination of adult lifespan GO:0008340 9.6 TREX1 CGAS
11 somatic hypermutation of immunoglobulin genes GO:0016446 9.59 SAMHD1 EXO1
12 regulation of T cell activation GO:0050863 9.58 TREX1 CGAS
13 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.58 COL4A2 COL4A1
14 RNA catabolic process GO:0006401 9.58 RNASEH2C RNASEH2B RNASEH2A
15 regulation of immunoglobulin production GO:0002637 9.55 TREX1 CGAS
16 DNA replication GO:0006260 9.55 TREX1 SAMHD1 RNASEH2A EXO1 ATRIP
17 cellular response to exogenous dsRNA GO:0071360 9.54 STING1 IFIH1 CGAS
18 DNA catabolic process GO:0006308 9.51 TREX1 DNASE1L3
19 negative regulation of type I interferon-mediated signaling pathway GO:0060339 9.5 TREX1 SAMHD1 ADAR
20 regulation of cellular metabolic process GO:0031323 9.46 TREX1 STING1
21 regulation of type I interferon production GO:0032479 9.43 TREX1 STING1 CGAS
22 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.35 TREX1 RNASEH2A EXO1 DNASE1L3 ATRIP
23 defense response to virus GO:0051607 9.1 TREX1 STING1 SAMHD1 IFIH1 CGAS ADAR

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 DNA binding GO:0003677 9.97 ZNF621 TREX1 SERPINA3 IFIH1 EXO1 DNASE1L3
2 hydrolase activity GO:0016787 9.86 TREX1 SAMHD1 RNASEH2A IFIH1 HTRA1 EXO1
3 endonuclease activity GO:0004519 9.5 RNASEH2A EXO1 DNASE1L3
4 exonuclease activity GO:0004527 9.33 TREX1 EXO1 ATRIP
5 nuclease activity GO:0004518 9.26 TREX1 RNASEH2A EXO1 DNASE1L3
6 RNA-DNA hybrid ribonuclease activity GO:0004523 8.8 RNASEH2B RNASEH2A EXO1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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