RVCL
MCID: VSC016
MIFTS: 56

Vasculopathy, Retinal, with Cerebral Leukodystrophy (RVCL)

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

Aliases & Classifications for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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

Name: Vasculopathy, Retinal, with Cerebral Leukodystrophy 56 73 13 43 39 71
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations 12 24 52 58 29 6
Rvcl 56 12 24 52 58 73
Retinal Vasculopathy with Cerebral Leukodystrophy 12 24 52 36 15
Crv 56 12 24 52 73
Rvcl-S 12 24 52 58
Retinopathy, Vascular, with Cerebral and Renal Involvement and Raynaud and Migraine Phenomena 56 12 52
Retinal Vasculopathy and Cerebral Leukoencephalopathy 12 52 58
Herns 24 52 73
Cerebroretinal Vasculopathy, Hereditary 56 52
Hereditary Vascular Retinopathy 24 52
Cerebroretinal Vasculopathy 24 73
Hvr 24 52
Vascular Retinopathy with Cerebral and Renal Involvement and Raynaud and Migraine Phenomena 73
Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy 52
Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke 52
Hereditary Endotheliopathy with Retinopathy-Nephropathy-Stroke 73
Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke 24
Cerebroretinal Vasculopathy, Hereditary; Crv 56
Hereditary Cerebroretinal Vasculopathy 12
Hereditary Systemic Angiopathy 24
Adrvcl 52
Hsa 24

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

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


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 Leukodystrophy

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 : Vasculopathy, Retinal, with Cerebral Leukodystrophy, also known as retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, is related to cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 and migraine with or without aura 1, and has symptoms including seizures and hemiparesis. An important gene associated with Vasculopathy, Retinal, with Cerebral Leukodystrophy 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 Aclarubicin and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include brain, retina and kidney, and related phenotypes are leukodystrophy and focal white matter lesions

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.

OMIM : 56 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)

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.

Wikipedia : 74 Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy (AD-RVCL) (previously known also as... more...

GeneReviews: NBK546576

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:

(show top 50) (show all 443)
# Related Disease Score Top Affiliating Genes
1 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 30.0 TREX1 SERPINA3 NOTCH3 HTRA1 COL4A1
2 migraine with or without aura 1 29.4 TSPAN2 TREX1 NOTCH3 HTRA1 COL4A1
3 cerebrovascular disease 29.3 TREX1 SERPINA3 NOTCH3 HTRA1 COL4A1
4 leukodystrophy 29.2 TREX1 SERPINA3 SAMHD1 RNASEH2C RNASEH2B RNASEH2A
5 microcephaly 28.4 TREX1 SAMHD1 RNASEH2C RNASEH2B RNASEH2A IFIH1
6 thrombocytopenia 28.0 SAMHD1 RNASEH2C RNASEH2B RNASEH2A IFIH1 ADAR
7 aicardi-goutieres syndrome 26.8 TREX1 STING1 SAMHD1 RNASEH2C RNASEH2B RNASEH2A
8 hydrocephalus due to congenital stenosis of aqueduct of sylvius 12.2
9 headache associated with sexual activity 11.9
10 masa syndrome 11.9
11 hydrocephalus with stenosis of the aqueduct of sylvius 11.7
12 analbuminemia 11.2
13 lung cancer 10.6
14 hepatocellular carcinoma 10.6
15 gastric cancer 10.5
16 colorectal cancer 10.5
17 squamous cell carcinoma 10.5
18 small cell cancer of the lung 10.5
19 oral squamous cell carcinoma 10.4
20 bladder cancer 10.4
21 polycystic kidney disease 10.4
22 osteogenic sarcoma 10.4
23 cervical cancer 10.4
24 glioma 10.4
25 glial tumor 10.4
26 lung cancer susceptibility 3 10.4
27 kidney disease 10.3
28 adenocarcinoma 10.3
29 raynaud phenomenon 10.3
30 thrombotic microangiopathy 10.3
31 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 10.3 NOTCH3 HTRA1
32 thyroid carcinoma 10.3
33 pseudobulbar palsy 10.3 NOTCH3 HTRA1
34 glioblastoma multiforme 10.3
35 visual cortex disease 10.3 RNASEH2C RNASEH2B
36 retinal arteries, tortuosity of 10.3 TREX1 COL4A1
37 inguinal hernia 10.3
38 ovarian cancer 10.3
39 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 10.3
40 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 10.3
41 hepatitis e 10.3
42 visual pathway disease 10.3 RNASEH2C RNASEH2B
43 renal cell carcinoma, nonpapillary 10.2
44 type 1 interferonopathy 10.2 TREX1 SAMHD1
45 pancreatic cancer 10.2
46 leukemia 10.2
47 systemic lupus erythematosus 10.2
48 myeloid leukemia 10.2
49 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 10.2 RNASEH2C RNASEH2B
50 porencephaly 10.2 HTRA1 COL4A1

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

Human phenotypes related to Vasculopathy, Retinal, with Cerebral Leukodystrophy:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 leukodystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002415
2 focal white matter lesions 58 31 hallmark (90%) Very frequent (99-80%) HP:0007042
3 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
4 retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000488
5 progressive visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000529
6 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
7 stroke 58 31 frequent (33%) Frequent (79-30%) HP:0001297
8 mental deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0001268
9 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
10 hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001269
11 apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0002186
12 seizure 31 frequent (33%) HP:0001250
13 abnormal retinal vascular morphology 31 frequent (33%) HP:0008046
14 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
15 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
16 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
17 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
18 glomerulopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100820
19 sensory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0003474
20 micronodular cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001413
21 visual impairment 58 31 Very frequent (99-80%) HP:0000505
22 seizures 58 Frequent (79-30%)
23 elevated hepatic transaminase 31 HP:0002910
24 abnormality of the retinal vasculature 58 Frequent (79-30%)
25 headache 58 Frequent (79-30%)
26 central nervous system degeneration 31 HP:0007009
27 retinal hemorrhage 31 HP:0000573
28 dementia 31 HP:0000726
29 abnormality of the periventricular white matter 31 HP:0002518
30 elevated erythrocyte sedimentation rate 31 HP:0003565
31 raynaud phenomenon 31 HP:0030880
32 telangiectasia 31 HP:0001009
33 limb pain 31 HP:0009763
34 vasculitis in the skin 31 HP:0200029
35 retinal exudate 31 HP:0001147
36 macular edema 31 HP:0040049
37 lower limb hyperreflexia 31 HP:0002395
38 progressive forgetfulness 31 HP:0007017
39 diminished ability to concentrate 31 HP:0031987
40 punctate vasculitis skin lesions 31 HP:0200030

Symptoms via clinical synopsis from OMIM:

56
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

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


seizures, hemiparesis

MGI Mouse Phenotypes related to Vasculopathy, Retinal, with Cerebral Leukodystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.96 ADAR COL4A1 DNASE1L3 EXO1 IFIH1 NOTCH3
2 hematopoietic system MP:0005397 9.85 ADAR CGAS COL4A1 EXO1 IFIH1 NOTCH3
3 immune system MP:0005387 9.73 ADAR CGAS COL4A1 EXO1 IFIH1 NOTCH3
4 mortality/aging MP:0010768 9.4 ADAR CGAS COL4A1 EXO1 IFIH1 NOTCH3

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)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aclarubicin Investigational Phase 1 57576-44-0 451415
2 Immunologic Factors Phase 1
3 Adjuvants, Immunologic Phase 1
4 Aclacinomycins Phase 1
5 Anti-Bacterial Agents Phase 1
6 Antibiotics, Antitubercular 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 Vasculopathy, Retinal, with Cerebral Leukodystrophy

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

Genetic Tests for Vasculopathy, Retinal, with Cerebral Leukodystrophy

Genetic tests related to Vasculopathy, Retinal, with Cerebral Leukodystrophy:

# Genetic test Affiliating Genes
1 Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations 29 TREX1

Anatomical Context for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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

40
Brain, Retina, Kidney, Testes, Skin, Eye, Bone

Publications for Vasculopathy, Retinal, with Cerebral Leukodystrophy

Articles related to Vasculopathy, Retinal, with Cerebral Leukodystrophy:

(show top 50) (show all 67)
# Title Authors PMID Year
1
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 6 24 56
17660820 2007
2
A new autosomal dominant vascular retinopathy syndrome. 24 56 6
1821204 1991
3
Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome. 56 24 52
15807828 2005
4
Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). 56 6
9371916 1997
5
Cerebroretinal vasculopathy. A new hereditary syndrome. 56 6
3174024 1988
6
Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation. 56 24
20876473 2010
7
Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon. 56 24
9549508 1998
8
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations 6 61
31536185 2019
9
Systemic features of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a monogenic small vessel disease. 24 61
30411414 2019
10
Tumefactive lesions in retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations (RVCL-S): a role for neuroinflammation? 61 24
28794152 2017
11
DNase-active TREX1 frame-shift mutants induce serologic autoimmunity in mice. 24 61
28325644 2017
12
A 44-year-old man with eye, kidney, and brain dysfunction. 24 61
26691497 2016
13
Multiple sclerosis-like lesions and type I interferon signature in a patient with RVCL. 61 24
25566545 2015
14
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. 61 24
25213617 2015
15
Novel ophthalmic pathology in an autopsy case of autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 61 24
21131853 2011
16
Migraine and genetic and acquired vasculopathies. 24 61
19689610 2009
17
Evidence for systemic manifestations in cerebroretinal vasculopathy. 56
14608656 2003
18
Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. 56
11438888 2001
19
Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome. 56
10449133 1999
20
Hereditary retinal vasculopathy with cerebral white matter lesions. 56
2817001 1989
21
Hereditary cerebral small vessel disease and stroke. 52
28254515 2017
22
TREX1 Mutation in Leukodystrophy with Calcifications and Persistent Gadolinium-Enhancement. 24
28013302 2017
23
A synonymous variant in TREX1 is associated with systemic sclerosis and severe digital ischaemia. 24
27574969 2017
24
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. 24
27604306 2016
25
Timing, rates and spectra of human germline mutation. 24
26656846 2016
26
Evolution of brain lesions in a patient with TREX1 cerebroretinal vasculopathy. 24
26527794 2015
27
Cytosolic Nuclease TREX1 Regulates Oligosaccharyltransferase Activity Independent of Nuclease Activity to Suppress Immune Activation. 24
26320659 2015
28
Human disease phenotypes associated with mutations in TREX1. 52
25731743 2015
29
Heterozygous TREX1 mutations in early-onset cerebrovascular disease. 24
23881107 2013
30
The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. 24
18805785 2008
31
Hereditary systemic angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy. 24
18204807 2008
32
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 24
17660818 2007
33
A human DNA editing enzyme homologous to the Escherichia coli DnaQ/MutD protein. 24
10393201 1999
34
Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3'-->5' exonucleases. 24
10391904 1999
35
Increased Mortality and Vascular Phenotype in a Knock-In Mouse Model of Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations. 61
31805844 2020
36
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
37
TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD Is in Fact a Case of RVCL-S Presenting With Renal Features. 61
30846258 2019
38
Literature Commentary: Take Two! 61
31022066 2019
39
Live birth of a Pashmina goat kid after transfer of handmade cloned embryos. 61
30842354 2019
40
Calcium ionophore enhanced developmental competence and apoptotic dynamics of goat parthenogenetic embryos produced in vitro. 61
30737632 2019
41
Retinal Vasculopathy With Cerebral Leukodystrophy: Clinicopathologic Features of an Autopsied Patient With a Heterozygous TREX 1 Mutation. 61
30561700 2019
42
Magnetic Resonance Imaging Characteristics of Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. 61
30627749 2019
43
TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD-A Novel Presentation. 61
29941221 2018
44
TREX1 is expressed by microglia in normal human brain and increases in regions affected by ischemia. 61
30062819 2018
45
Retinal vasculopathy with cerebral leukoencephalopathy (RVCL): A rare mimic of tumefactive MS. 61
30194247 2018
46
RVCL-S and CADASIL display distinct impaired vascular function. 61
30076273 2018
47
Renal histopathological findings of retinal vasculopathy with cerebral leukodystrophy. 61
29322432 2018
48
[Retinal vasculopathy with cerebral leukoencephalopathy carrying TREX1 mutation diagnosed by the intracranial calcification: a case report]. 61
29386495 2018
49
Phenotypic Variability in a Mexican Mestizo Family with Retinal Vasculopathy with Cerebral Leukodystrophy and TREX1 Mutation p.V235Gfs*6. 61
29718010 2018
50
Circulating Endothelial Markers in Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations. 61
29114091 2017

Variations for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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

6 (show top 50) (show all 81) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TREX1 NM_033629.6(TREX1):c.703dup (p.Val235fs)duplication Pathogenic 449514 rs1553820434 3:48508753-48508754 3:48467354-48467355
2 TREX1 NM_033629.6(TREX1):c.228_235CTGCAGCC[1] (p.Pro79fs)short repeat Pathogenic 850507 3:48508281-48508288 3:48466882-48466889
3 TREX1 NM_033629.6(TREX1):c.228_235CTGCAGCC[3] (p.Ser82fs)short repeat Pathogenic 839889 3:48508280-48508281 3:48466881-48466882
4 TREX1 NM_033629.6(TREX1):c.52G>A (p.Asp18Asn)SNV Pathogenic 4185 rs121908117 3:48508106-48508106 3:48466707-48466707
5 TREX1 TREX1, 1-BP INS, 3688Ginsertion Pathogenic 4186
6 TREX1 NM_033629.6(TREX1):c.703_706dup (p.Thr236fs)duplication Pathogenic 4187 rs1560113283 3:48508756-48508757 3:48467357-48467358
7 TREX1 NM_033629.6(TREX1):c.366_368dup (p.Ala123dup)duplication Pathogenic 126386 rs77371662 3:48508419-48508420 3:48467020-48467021
8 TREX1 NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)deletion Pathogenic 126393 rs79318303 3:48508913-48508930 3:48467514-48467531
9 TREX1 NM_016381.5(TREX1):c.764_766dupATG (p.Asp255dup)duplication Likely pathogenic 4181 rs74556809 3:48508650-48508651 3:48467251-48467252
10 TREX1 NM_033629.6(TREX1):c.340C>T (p.Arg114Cys)SNV Likely pathogenic 209198 rs760838030 3:48508394-48508394 3:48466995-48466995
11 TREX1 NM_033629.6(TREX1):c.416del (p.Ala139fs)deletion Likely pathogenic 843202 3:48508470-48508470 3:48467071-48467071
12 TREX1 NM_033629.6(TREX1):c.796G>T (p.Glu266Ter)SNV Likely pathogenic 835524 3:48508850-48508850 3:48467451-48467451
13 TREX1 NM_033629.6(TREX1):c.829A>T (p.Lys277Ter)SNV Likely pathogenic 535846 rs1553820518 3:48508883-48508883 3:48467484-48467484
14 TREX1 NM_033629.6(TREX1):c.219G>A (p.Pro73=)SNV Conflicting interpretations of pathogenicity 448703 rs778992418 3:48508273-48508273 3:48466874-48466874
15 TREX1 NM_033629.6(TREX1):c.-26-1G>ASNV Conflicting interpretations of pathogenicity 632417 rs749323787 3:48508028-48508028 3:48466629-48466629
16 TREX1 NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)SNV Conflicting interpretations of pathogenicity 522920 rs755919767 3:48508272-48508272 3:48466873-48466873
17 TREX1 NM_033629.6(TREX1):c.720G>C (p.Arg240Ser)SNV Conflicting interpretations of pathogenicity 586841 rs72556555 3:48508774-48508774 3:48467375-48467375
18 TREX1 NM_033629.6(TREX1):c.651G>A (p.Arg217=)SNV Conflicting interpretations of pathogenicity 739289 3:48508705-48508705 3:48467306-48467306
19 TREX1 NM_033629.6(TREX1):c.346C>G (p.Pro116Ala)SNV Conflicting interpretations of pathogenicity 809480 3:48508400-48508400 3:48467001-48467001
20 TREX1 NM_033629.6(TREX1):c.294dup (p.Cys99fs)duplication Conflicting interpretations of pathogenicity 225499 rs760594164 3:48508346-48508347 3:48466947-48466948
21 TREX1 NM_033629.6(TREX1):c.341G>A (p.Arg114His)SNV Conflicting interpretations of pathogenicity 4179 rs72556554 3:48508395-48508395 3:48466996-48466996
22 TREX1 NM_033629.6(TREX1):c.473C>T (p.Ala158Val)SNV Conflicting interpretations of pathogenicity 902141 3:48508527-48508527 3:48467128-48467128
23 TREX1 NM_033629.6(TREX1):c.649C>T (p.Arg217Trp)SNV Conflicting interpretations of pathogenicity 903021 3:48508703-48508703 3:48467304-48467304
24 TREX1 NM_033629.6(TREX1):c.9G>A (p.Ser3=)SNV Conflicting interpretations of pathogenicity 345772 rs762687506 3:48508063-48508063 3:48466664-48466664
25 TREX1 NM_033629.6(TREX1):c.183G>A (p.Pro61=)SNV Conflicting interpretations of pathogenicity 345773 rs55852466 3:48508237-48508237 3:48466838-48466838
26 TREX1 NM_033629.6(TREX1):c.312G>C (p.Leu104=)SNV Conflicting interpretations of pathogenicity 345775 rs56162833 3:48508366-48508366 3:48466967-48466967
27 TREX1 NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)SNV Conflicting interpretations of pathogenicity 96242 rs55999987 3:48508851-48508851 3:48467452-48467452
28 TREX1 NM_033629.6(TREX1):c.418A>G (p.Met140Val)SNV Uncertain significance 345777 rs761526437 3:48508472-48508472 3:48467073-48467073
29 TREX1 NM_130384.3(ATRIP):c.*583A>GSNV Uncertain significance 345765 rs767364235 3:48507536-48507536 3:48466137-48466137
30 TREX1 NM_033629.6(TREX1):c.-100C>TSNV Uncertain significance 345768 rs886058623 3:48507635-48507635 3:48466236-48466236
31 TREX1 NM_033629.6(TREX1):c.536T>C (p.Leu179Pro)SNV Uncertain significance 345779 rs886058625 3:48508590-48508590 3:48467191-48467191
32 TREX1 NM_130384.3(ATRIP):c.*495C>TSNV Uncertain significance 345763 rs377157141 3:48507448-48507448 3:48466049-48466049
33 TREX1 NM_130384.3(ATRIP):c.*576G>TSNV Uncertain significance 345764 rs886058622 3:48507529-48507529 3:48466130-48466130
34 TREX1 NM_130384.3(ATRIP):c.*655G>CSNV Uncertain significance 345766 rs577465983 3:48507608-48507608 3:48466209-48466209
35 TREX1 NM_033629.6(TREX1):c.-50_-47CTGC[4]short repeat Uncertain significance 345771 rs371036312 3:48507685-48507688 3:48466286-48466289
36 TREX1 NM_033629.6(TREX1):c.923C>G (p.Ser308Cys)SNV Uncertain significance 374471 rs769885715 3:48508977-48508977 3:48467578-48467578
37 TREX1 NM_033629.6(TREX1):c.803G>C (p.Arg268Thr)SNV Uncertain significance 899409 3:48508857-48508857 3:48467458-48467458
38 TREX1 NM_033629.6(TREX1):c.846A>G (p.Leu282=)SNV Uncertain significance 900528 3:48508900-48508900 3:48467501-48467501
39 TREX1 NM_033629.6(TREX1):c.554G>A (p.Arg185His)SNV Uncertain significance 903020 3:48508608-48508608 3:48467209-48467209
40 TREX1 NM_033629.6(TREX1):c.907A>C (p.Thr303Pro)SNV Uncertain significance 126394 rs76224909 3:48508961-48508961 3:48467562-48467562
41 TREX1 NM_033629.6(TREX1):c.24G>A (p.Pro8=)SNV Uncertain significance 844413 3:48508078-48508078 3:48466679-48466679
42 TREX1 NM_033629.6(TREX1):c.127G>T (p.Ala43Ser)SNV Uncertain significance 861797 3:48508181-48508181 3:48466782-48466782
43 TREX1 NM_033629.6(TREX1):c.142_144del (p.Pro48del)deletion Uncertain significance 841338 3:48508192-48508194 3:48466793-48466795
44 TREX1 NM_033629.6(TREX1):c.184C>T (p.Arg62Cys)SNV Uncertain significance 862993 3:48508238-48508238 3:48466839-48466839
45 TREX1 NM_033629.6(TREX1):c.191T>C (p.Val64Ala)SNV Uncertain significance 845321 3:48508245-48508245 3:48466846-48466846
46 TREX1 NM_033629.6(TREX1):c.739G>C (p.Ala247Pro)SNV Uncertain significance 586842 rs112741962 3:48508793-48508793 3:48467394-48467394
47 TREX1 NM_033629.6(TREX1):c.587C>T (p.Thr196Met)SNV Uncertain significance 535848 rs754998766 3:48508641-48508641 3:48467242-48467242
48 TREX1 NM_033629.6(TREX1):c.817C>G (p.Leu273Val)SNV Uncertain significance 851180 3:48508871-48508871 3:48467472-48467472
49 TREX1 NM_033629.6(TREX1):c.935C>G (p.Pro312Arg)SNV Uncertain significance 861671 3:48508989-48508989 3:48467590-48467590
50 TREX1 NM_033629.6(TREX1):c.427C>G (p.Leu143Val)SNV Uncertain significance 835233 3:48508481-48508481 3:48467082-48467082

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

Pathways related to Vasculopathy, Retinal, with Cerebral Leukodystrophy according to KEGG:

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

GO Terms for Vasculopathy, Retinal, with Cerebral Leukodystrophy

Cellular components related to Vasculopathy, Retinal, with Cerebral Leukodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.77 ZNF621 TREX1 SERPINA3 SAMHD1 RNASEH2C RNASEH2B
2 ribonuclease H2 complex GO:0032299 8.8 RNASEH2C RNASEH2B RNASEH2A

Biological processes related to Vasculopathy, Retinal, with Cerebral Leukodystrophy according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.99 STING1 SAMHD1 IFIH1 EXO1 CGAS ADAR
2 innate immune response GO:0045087 9.91 TREX1 STING1 SAMHD1 IFIH1 CGAS ADAR
3 DNA repair GO:0006281 9.9 TREX1 SAMHD1 EXO1 CGAS
4 DNA replication GO:0006260 9.8 TREX1 SAMHD1 RNASEH2A EXO1
5 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.72 RNASEH2B RNASEH2A EXO1
6 type I interferon signaling pathway GO:0060337 9.71 TREX1 SAMHD1 ADAR
7 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.71 TREX1 RNASEH2A EXO1 DNASE1L3
8 positive regulation of defense response to virus by host GO:0002230 9.61 STING1 CGAS
9 activation of innate immune response GO:0002218 9.61 STING1 CGAS
10 regulation of innate immune response GO:0045088 9.59 TREX1 SAMHD1
11 cellular response to interferon-beta GO:0035458 9.58 TREX1 STING1
12 determination of adult lifespan GO:0008340 9.58 TREX1 CGAS
13 somatic hypermutation of immunoglobulin genes GO:0016446 9.57 SAMHD1 EXO1
14 regulation of T cell activation GO:0050863 9.56 TREX1 CGAS
15 mismatch repair GO:0006298 9.54 TREX1 RNASEH2A EXO1
16 DNA catabolic process GO:0006308 9.52 TREX1 DNASE1L3
17 RNA catabolic process GO:0006401 9.5 RNASEH2C RNASEH2B RNASEH2A
18 regulation of cellular metabolic process GO:0031323 9.48 TREX1 STING1
19 regulation of immunoglobulin production GO:0002637 9.46 TREX1 CGAS
20 cellular response to exogenous dsRNA GO:0071360 9.43 STING1 IFIH1 CGAS
21 negative regulation of type I interferon-mediated signaling pathway GO:0060339 9.33 TREX1 SAMHD1 ADAR
22 regulation of type I interferon production GO:0032479 9.13 TREX1 STING1 CGAS
23 defense response to virus GO:0051607 9.1 TREX1 STING1 SAMHD1 IFIH1 CGAS ADAR

Molecular functions related to Vasculopathy, Retinal, with Cerebral Leukodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.92 ZNF621 TREX1 SERPINA3 IFIH1 EXO1 DNASE1L3
2 identical protein binding GO:0042802 9.88 TREX1 STING1 SAMHD1 NOTCH3 IFIH1 HTRA1
3 hydrolase activity GO:0016787 9.76 TREX1 SAMHD1 RNASEH2A IFIH1 HTRA1 EXO1
4 endonuclease activity GO:0004519 9.43 RNASEH2A EXO1 DNASE1L3
5 ribonuclease activity GO:0004540 9.37 SAMHD1 RNASEH2A
6 nuclease activity GO:0004518 9.26 TREX1 RNASEH2A EXO1 DNASE1L3
7 RNA-DNA hybrid ribonuclease activity GO:0004523 8.8 RNASEH2B RNASEH2A EXO1

Sources for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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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