RVCL
MCID: VSC016
MIFTS: 49

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 29 13 6 43 39 71
Rvcl 56 12 24 52 58 73
Crv 56 12 24 52 73
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations 12 24 52 58
Retinal Vasculopathy with Cerebral Leukodystrophy 12 24 52 36
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 rvcl, is related to aicardi-goutieres syndrome and hydrocephalus due to congenital stenosis of aqueduct of sylvius, 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 Chks in Checkpoint Regulation. The drugs Aclarubicin and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and retina, and related phenotypes are leukodystrophy and focal white matter lesions

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 410)
# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 28.6 TREX1 ATRIP-TREX1 ATRIP
2 hydrocephalus due to congenital stenosis of aqueduct of sylvius 12.1
3 headache associated with sexual activity 11.9
4 masa syndrome 11.9
5 hydrocephalus with stenosis of the aqueduct of sylvius 11.7
6 analbuminemia 11.2
7 leukodystrophy 10.6
8 hepatocellular carcinoma 10.5
9 lung cancer 10.5
10 gastric cancer 10.5
11 squamous cell carcinoma 10.5
12 colorectal cancer 10.5
13 oral squamous cell carcinoma 10.4
14 polycystic kidney disease 10.4
15 bladder cancer 10.4
16 small cell cancer of the lung 10.4
17 glioma 10.4
18 glial tumor 10.4
19 osteogenic sarcoma 10.4
20 cervical cancer 10.4
21 lung cancer susceptibility 3 10.3
22 kidney disease 10.3
23 hypothyroidism 10.3
24 raynaud phenomenon 10.3
25 thrombotic microangiopathy 10.3
26 adenocarcinoma 10.3
27 glioblastoma multiforme 10.3
28 inguinal hernia 10.3
29 pancreatic cancer 10.2
30 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 10.2
31 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 10.2
32 hepatitis e 10.2
33 ovarian cancer 10.2
34 systemic lupus erythematosus 10.2
35 lymphocytic leukemia 10.2
36 myeloid leukemia 10.2
37 cerebral artery occlusion 10.2
38 retinal ischemia 10.2
39 macular retinal edema 10.2
40 scotoma 10.2
41 esophageal cancer 10.2
42 renal cell carcinoma, nonpapillary 10.2
43 thyroid carcinoma 10.2
44 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.2
45 multiple sclerosis 10.2
46 migraine with or without aura 1 10.2
47 vasculitis 10.2
48 vascular dementia 10.2
49 autoimmune disease 10.1
50 hydrocephalus 10.1

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 39)
# 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 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
4 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
5 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
6 retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000488
7 progressive visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000529
8 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
9 apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0002186
10 mental deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0001268
11 stroke 58 31 frequent (33%) Frequent (79-30%) HP:0001297
12 hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001269
13 abnormal retinal vascular morphology 31 frequent (33%) HP:0008046
14 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
15 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
16 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
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 elevated hepatic transaminase 31 HP:0002910
23 abnormality of the retinal vasculature 58 Frequent (79-30%)
24 dementia 31 HP:0000726
25 headache 58 Frequent (79-30%)
26 lower limb hyperreflexia 31 HP:0002395
27 central nervous system degeneration 31 HP:0007009
28 retinal hemorrhage 31 HP:0000573
29 abnormality of the periventricular white matter 31 HP:0002518
30 raynaud phenomenon 31 HP:0030880
31 elevated erythrocyte sedimentation rate 31 HP:0003565
32 telangiectasia 31 HP:0001009
33 macular edema 31 HP:0040049
34 retinal exudate 31 HP:0001147
35 vasculitis in the skin 31 HP:0200029
36 progressive forgetfulness 31 HP:0007017
37 limb pain 31 HP:0009763
38 diminished ability to concentrate 31 HP:0031987
39 punctate vasculitis skin lesions 31 HP:0200030

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
dysarthria
migraine
apraxia
stroke
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

Drugs & Therapeutics for Vasculopathy, Retinal, with Cerebral Leukodystrophy

Drugs for Vasculopathy, Retinal, with Cerebral Leukodystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


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

Interventional clinical trials:


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

Search NIH Clinical Center for 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 Vasculopathy, Retinal, with Cerebral Leukodystrophy 29 TREX1

Anatomical Context for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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

40
Brain, Kidney, Retina, Lung, Bone, Thyroid, Skin

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. 24 56 6
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. 24 52 56
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. 24 56
20876473 2010
7
Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon. 24 56
9549508 1998
8
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations 61 6
31536185 2019
9
Systemic features of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a monogenic small vessel disease. 61 24
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. 61 24
28325644 2017
12
A 44-year-old man with eye, kidney, and brain dysfunction. 61 24
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. 61 24
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 all 50) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TREX1 NM_033629.6(TREX1):c.52G>A (p.Asp18Asn)SNV Pathogenic 4185 rs121908117 3:48508106-48508106 3:48466707-48466707
2 TREX1 TREX1, 1-BP INS, 3688Ginsertion Pathogenic 4186
3 TREX1 NM_033629.6(TREX1):c.703_706dup (p.Thr236fs)duplication Pathogenic 4187 rs1560113283 3:48508756-48508757 3:48467357-48467358
4 TREX1 NM_033629.6(TREX1):c.366_368dup (p.Ala123dup)duplication Pathogenic 126386 rs77371662 3:48508419-48508420 3:48467020-48467021
5 TREX1 NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)deletion Pathogenic 126393 rs79318303 3:48508913-48508930 3:48467514-48467531
6 TREX1 NM_033629.6(TREX1):c.703dup (p.Val235fs)duplication Pathogenic 449514 rs1553820434 3:48508753-48508754 3:48467354-48467355
7 TREX1 NM_033629.6(TREX1):c.340C>T (p.Arg114Cys)SNV Likely pathogenic 209198 rs760838030 3:48508394-48508394 3:48466995-48466995
8 TREX1 NM_033629.6(TREX1):c.829A>T (p.Lys277Ter)SNV Likely pathogenic 535846 rs1553820518 3:48508883-48508883 3:48467484-48467484
9 TREX1 NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)SNV Conflicting interpretations of pathogenicity 522920 rs755919767 3:48508272-48508272 3:48466873-48466873
10 TREX1 NM_033629.6(TREX1):c.219G>A (p.Pro73=)SNV Conflicting interpretations of pathogenicity 448703 rs778992418 3:48508273-48508273 3:48466874-48466874
11 TREX1 NM_033629.6(TREX1):c.294dup (p.Cys99fs)duplication Conflicting interpretations of pathogenicity 225499 rs760594164 3:48508346-48508347 3:48466947-48466948
12 TREX1 NM_033629.6(TREX1):c.341G>A (p.Arg114His)SNV Conflicting interpretations of pathogenicity 4179 rs72556554 3:48508395-48508395 3:48466996-48466996
13 TREX1 NM_033629.6(TREX1):c.9G>A (p.Ser3=)SNV Conflicting interpretations of pathogenicity 345772 rs762687506 3:48508063-48508063 3:48466664-48466664
14 TREX1 NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)SNV Conflicting interpretations of pathogenicity 96242 rs55999987 3:48508851-48508851 3:48467452-48467452
15 TREX1 NM_033629.6(TREX1):c.312G>C (p.Leu104=)SNV Conflicting interpretations of pathogenicity 345775 rs56162833 3:48508366-48508366 3:48466967-48466967
16 TREX1 NM_130384.3(ATRIP):c.*655G>CSNV Uncertain significance 345766 rs577465983 3:48507608-48507608 3:48466209-48466209
17 TREX1 NM_033629.6(TREX1):c.418A>G (p.Met140Val)SNV Uncertain significance 345777 rs761526437 3:48508472-48508472 3:48467073-48467073
18 TREX1 NM_130384.3(ATRIP):c.*583A>GSNV Uncertain significance 345765 rs767364235 3:48507536-48507536 3:48466137-48466137
19 TREX1 NM_033629.6(TREX1):c.899C>T (p.Ala300Val)SNV Uncertain significance 467832 rs1553820567 3:48508953-48508953 3:48467554-48467554
20 TREX1 NM_033629.6(TREX1):c.-50_-47CTGC[4]short repeat Uncertain significance 345771 rs371036312 3:48507685-48507688 3:48466286-48466289
21 TREX1 NM_033629.6(TREX1):c.923C>G (p.Ser308Cys)SNV Uncertain significance 374471 rs769885715 3:48508977-48508977 3:48467578-48467578
22 TREX1 NM_033629.6(TREX1):c.536T>C (p.Leu179Pro)SNV Uncertain significance 345779 rs886058625 3:48508590-48508590 3:48467191-48467191
23 TREX1 NM_130384.3(ATRIP):c.*495C>TSNV Uncertain significance 345763 rs377157141 3:48507448-48507448 3:48466049-48466049
24 TREX1 NM_130384.3(ATRIP):c.*576G>TSNV Uncertain significance 345764 rs886058622 3:48507529-48507529 3:48466130-48466130
25 TREX1 NM_033629.6(TREX1):c.-100C>TSNV Uncertain significance 345768 rs886058623 3:48507635-48507635 3:48466236-48466236
26 TREX1 NM_033629.6(TREX1):c.907A>C (p.Thr303Pro)SNV Uncertain significance 126394 rs76224909 3:48508961-48508961 3:48467562-48467562
27 TREX1 NM_033629.6(TREX1):c.587C>T (p.Thr196Met)SNV Uncertain significance 535848 rs754998766 3:48508641-48508641 3:48467242-48467242
28 TREX1 NM_033629.6(TREX1):c.382C>T (p.Arg128Cys)SNV Uncertain significance 535847 rs199614534 3:48508436-48508436 3:48467037-48467037
29 TREX1 NM_033629.6(TREX1):c.623G>C (p.Cys208Ser)SNV Uncertain significance 570429 rs146524913 3:48508677-48508677 3:48467278-48467278
30 TREX1 NM_033629.6(TREX1):c.869C>T (p.Pro290Leu)SNV Uncertain significance 576299 rs148833270 3:48508923-48508923 3:48467524-48467524
31 TREX1 NM_033629.6(TREX1):c.338G>A (p.Arg113Gln)SNV Uncertain significance 571633 rs201496629 3:48508392-48508392 3:48466993-48466993
32 TREX1 NM_033629.6(TREX1):c.690G>C (p.Arg230Ser)SNV Uncertain significance 575190 rs55691060 3:48508744-48508744 3:48467345-48467345
33 TREX1 NM_033629.6(TREX1):c.739G>C (p.Ala247Pro)SNV Uncertain significance 586842 rs112741962 3:48508793-48508793 3:48467394-48467394
34 TREX1 NM_033629.6(TREX1):c.250A>G (p.Ile84Val)SNV Uncertain significance 647120 3:48508304-48508304 3:48466905-48466905
35 TREX1 NM_033629.6(TREX1):c.251T>C (p.Ile84Thr)SNV Uncertain significance 651268 3:48508305-48508305 3:48466906-48466906
36 TREX1 NM_033629.6(TREX1):c.640G>A (p.Ala214Thr)SNV Uncertain significance 652641 3:48508694-48508694 3:48467295-48467295
37 TREX1 NM_033629.6(TREX1):c.734C>G (p.Pro245Arg)SNV Uncertain significance 662525 3:48508788-48508788 3:48467389-48467389
38 TREX1 NM_033629.6(TREX1):c.784C>T (p.Pro262Ser)SNV Uncertain significance 665857 3:48508838-48508838 3:48467439-48467439
39 TREX1 NM_033629.6(TREX1):c.-60C>TSNV Likely benign 345770 rs2279076 3:48507675-48507675 3:48466276-48466276
40 TREX1 NM_130384.3(ATRIP):c.*267T>CSNV Likely benign 345761 rs148393533 3:48507220-48507220 3:48465821-48465821
41 TREX1 NM_130384.3(ATRIP):c.*272deldeletion Likely benign 345762 rs3135939 3:48507224-48507224 3:48465825-48465825
42 TREX1 NM_130384.3(ATRIP):c.*665C>TSNV Likely benign 345767 rs548710061 3:48507618-48507618 3:48466219-48466219
43 TREX1 NM_033629.6(TREX1):c.183G>A (p.Pro61=)SNV Likely benign 345773 rs55852466 3:48508237-48508237 3:48466838-48466838
44 TREX1 NM_033629.6(TREX1):c.394C>G (p.Pro132Ala)SNV Likely benign 345776 rs200510205 3:48508448-48508448 3:48467049-48467049
45 TREX1 NM_033629.6(TREX1):c.462T>C (p.Asp154=)SNV Benign/Likely benign 345778 rs3135944 3:48508516-48508516 3:48467117-48467117
46 TREX1 NM_033629.6(TREX1):c.198G>A (p.Lys66=)SNV Benign/Likely benign 345774 rs3135943 3:48508252-48508252 3:48466853-48466853
47 TREX1 NM_033629.6(TREX1):c.912G>A (p.Leu304=)SNV Benign 262243 rs3135945 3:48508966-48508966 3:48467567-48467567
48 TREX1 NM_033629.6(TREX1):c.531= (p.Tyr177=)SNV Benign 96241 rs11797 3:48508585-48508585 3:48467186-48467186
49 TREX1 NM_033629.6(TREX1):c.*37T>CSNV Benign 345780 rs3135946 3:48509036-48509036 3:48467637-48467637
50 TREX1 NM_033629.6(TREX1):c.-68T>CSNV Benign 345769 rs3135941 3:48507667-48507667 3:48466268-48466268

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.23 TREX1 ATRIP

GO Terms for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.26 TREX1 ATRIP
2 DNA repair GO:0006281 9.16 TREX1 ATRIP
3 DNA replication GO:0006260 8.96 TREX1 ATRIP
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 8.62 TREX1 ATRIP

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

# Name GO ID Score Top Affiliating Genes
1 exonuclease activity GO:0004527 8.62 TREX1 ATRIP

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
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
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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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