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RVCL
MCID: VSC016
MIFTS: 46

Vasculopathy, Retinal, with Cerebral Leukodystrophy (RVCL)

Categories: Bone diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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

Name: Vasculopathy, Retinal, with Cerebral Leukodystrophy 57 74 29 13 6 40 72
Rvcl 57 53 59 74
Crv 57 53 74
Retinopathy, Vascular, with Cerebral and Renal Involvement and Raynaud and Migraine Phenomena 57 53
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations 53 59
Retinal Vasculopathy and Cerebral Leukoencephalopathy 53 59
Retinal Vasculopathy with Cerebral Leukodystrophy 53 37
Cerebroretinal Vasculopathy, Hereditary 57 53
Rvcl-S 53 59
Vascular Retinopathy with Cerebral and Renal Involvement and Raynaud and Migraine Phenomena 74
Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy 53
Hereditary Endotheliopathy with Retinopathy-Nephropathy-Stroke 74
Cerebroretinal Vasculopathy, Hereditary; Crv 57
Cerebroretinal Vasculopathy 74
Adrvcl 53
Herns 74

Characteristics:

Orphanet epidemiological data:

59
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
vasculopathy, retinal, with cerebral leukodystrophy:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Bone diseases
See all MalaCards categories (disease lists)
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare systemic and rhumatological diseases


External Ids:

OMIM 57 192315
KEGG 37 H01000
UMLS via Orphanet 73 C1860518
Orphanet 59 ORPHA247691
MedGen 42 C1860518
UMLS 72 C1860518
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Summaries for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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NIH Rare Diseases : 53 Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, genetic condition that primarily affects the central nervous system. Symptoms begin in adulthood (usually in the 40s) and may include loss of vision, mini-strokes, and dementia. Death can sometimes occur within 10 years of the first symptoms appearing. RVCL is inherited in an autosomal dominant manner and is caused by mutations in the TREX1 gene. Treatments currently aim to manage or alleviate the symptoms rather than treating the underlying cause.RVCL is now considered to include the following 3 conditions which were previously thought to be distinct: hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS); cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR).

MalaCards based summary : Vasculopathy, Retinal, with Cerebral Leukodystrophy, also known as rvcl, is related to aicardi-goutieres syndrome and hereditary endotheliopathy, retinopathy, nephropathy, and stroke, 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 Aclacinomycins have been mentioned in the context of this disorder. Affiliated tissues include brain, retina and skin, and related phenotypes are leukodystrophy and focal white matter lesions

OMIM : 57 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 : 37
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 : 74 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 : 75 Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy (AD-RVCL) (previously known also as... more...

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Related Diseases for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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Diseases related to Vasculopathy, Retinal, with Cerebral Leukodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 28.8 TREX1 SHISA5 ATRIP
2 hereditary endotheliopathy, retinopathy, nephropathy, and stroke 11.6
3 leukodystrophy 10.5
4 thrombotic microangiopathy 10.3
5 hereditary vascular retinopathy 10.3
6 inguinal hernia 10.2
7 retinal ischemia 10.2
8 hypothyroidism 10.2
9 scotoma 10.2
10 raynaud phenomenon 10.2
11 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.2
12 multiple sclerosis 10.2
13 migraine with or without aura 1 10.2
14 vasculitis 10.2
15 vascular dementia 10.2
16 tumefactive multiple sclerosis 10.2
17 osteonecrosis 10.1
18 focal segmental glomerulosclerosis 10.1
19 aplastic anemia 10.1
20 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
21 retinal vascular disease 10.1
22 eye disease 10.1
23 intracranial hypertension 10.1
24 microcephaly 10.1
25 scoliosis, isolated 1 10.1
26 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 10.1
27 stroke, ischemic 10.1
28 hydrops, lactic acidosis, and sideroblastic anemia 10.1
29 apraxia 10.1
30 scoliosis 10.1
31 idiopathic scoliosis 10.1
32 macular retinal edema 10.1
33 cerebrovascular disease 10.1
34 osteoarthritis 10.1
35 substance dependence 10.1
36 col4a1-related disorders 10.1
37 aicardi-goutieres syndrome 1 9.5 TREX1 SHISA5

Graphical network of the top 20 diseases related to Vasculopathy, Retinal, with Cerebral Leukodystrophy:



Diseases related to Vasculopathy, Retinal, with Cerebral Leukodystrophy
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Symptoms & Phenotypes for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 leukodystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002415
2 focal white matter lesions 59 32 hallmark (90%) Very frequent (99-80%) HP:0007042
3 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
4 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
5 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
6 retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0000488
7 progressive visual loss 59 32 frequent (33%) Frequent (79-30%) HP:0000529
8 migraine 59 32 frequent (33%) Frequent (79-30%) HP:0002076
9 apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0002186
10 mental deterioration 59 32 frequent (33%) Frequent (79-30%) HP:0001268
11 stroke 59 32 frequent (33%) Frequent (79-30%) HP:0001297
12 hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0001269
13 abnormal retinal vascular morphology 32 frequent (33%) HP:0008046
14 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
15 proteinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000093
16 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
17 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790
18 glomerulopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100820
19 sensory impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0003474
20 micronodular cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001413
21 visual impairment 59 32 Very frequent (99-80%) HP:0000505
22 elevated hepatic transaminase 32 HP:0002910
23 abnormality of the retinal vasculature 59 Frequent (79-30%)
24 dementia 32 HP:0000726
25 headache 59 Frequent (79-30%)
26 lower limb hyperreflexia 32 HP:0002395
27 central nervous system degeneration 32 HP:0007009
28 retinal hemorrhage 32 HP:0000573
29 abnormality of the periventricular white matter 32 HP:0002518
30 raynaud phenomenon 32 HP:0030880
31 elevated erythrocyte sedimentation rate 32 HP:0003565
32 telangiectasia 32 HP:0001009
33 macular edema 32 HP:0040049
34 retinal exudate 32 HP:0001147
35 vasculitis in the skin 32 HP:0200029
36 progressive forgetfulness 32 HP:0007017
37 limb pain 32 HP:0009763
38 diminished ability to concentrate 32 HP:0031987
39 punctate vasculitis skin lesions 32 HP:0200030

Symptoms via clinical synopsis from OMIM:

57
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
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Drugs & Therapeutics for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aclarubicin Investigational Phase 1 57576-44-0 451415
2 Aclacinomycins Phase 1
3 Antibiotics, Antitubercular Phase 1
4 Topoisomerase Inhibitors Phase 1
5 Adjuvants, Immunologic Phase 1
6 Anti-Bacterial Agents Phase 1
7 Immunologic Factors 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

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Genetic Tests for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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

# Genetic test Affiliating Genes
1 Vasculopathy, Retinal, with Cerebral Leukodystrophy 29 TREX1
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Anatomical Context for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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

41
Brain, Retina, Skin, Eye, Liver, Bone, Kidney
Sources

Publications for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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Articles related to Vasculopathy, Retinal, with Cerebral Leukodystrophy:

(show top 50) (show all 51)
# Title Authors PMID Year
1
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 8 71
17660820 2007
2
Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). 8 71
9371916 1997
3
A new autosomal dominant vascular retinopathy syndrome. 8 71
1821204 1991
4
Cerebroretinal vasculopathy. A new hereditary syndrome. 8 71
3174024 1988
5
Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation. 8
20876473 2010
6
Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome. 8
15807828 2005
7
Evidence for systemic manifestations in cerebroretinal vasculopathy. 8
14608656 2003
8
Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. 8
11438888 2001
9
Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome. 8
10449133 1999
10
Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon. 8
9549508 1998
11
Hereditary retinal vasculopathy with cerebral white matter lesions. 8
2817001 1989
12
Literature Commentary: Take Two! 38
31022066 2019
13
In Reply to 'TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD Is in Fact a Case of RVCL-S Presenting With Renal Features'. 38
30846257 2019
14
TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD Is in Fact a Case of RVCL-S Presenting With Renal Features. 38
30846258 2019
15
Systemic features of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a monogenic small vessel disease. 38
30411414 2019
16
Live birth of a Pashmina goat kid after transfer of handmade cloned embryos. 38
30842354 2019
17
Calcium ionophore enhanced developmental competence and apoptotic dynamics of goat parthenogenetic embryos produced in vitro. 38
30737632 2019
18
Retinal Vasculopathy With Cerebral Leukodystrophy: Clinicopathologic Features of an Autopsied Patient With a Heterozygous TREX 1 Mutation. 38
30561700 2019
19
Magnetic Resonance Imaging Characteristics of Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. 38
30627749 2019
20
TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD-A Novel Presentation. 38
29941221 2018
21
TREX1 is expressed by microglia in normal human brain and increases in regions affected by ischemia. 38
30062819 2018
22
Retinal vasculopathy with cerebral leukoencephalopathy (RVCL): A rare mimic of tumefactive MS. 38
30194247 2018
23
RVCL-S and CADASIL display distinct impaired vascular function. 38
30076273 2018
24
Renal histopathological findings of retinal vasculopathy with cerebral leukodystrophy. 38
29322432 2018
25
[Retinal vasculopathy with cerebral leukoencephalopathy carrying TREX1 mutation diagnosed by the intracranial calcification: a case report]. 38
29386495 2018
26
Phenotypic Variability in a Mexican Mestizo Family with Retinal Vasculopathy with Cerebral Leukodystrophy and TREX1 Mutation p.V235Gfs*6. 38
29718010 2018
27
Circulating Endothelial Markers in Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations. 38
29114091 2017
28
Tumefactive lesions in retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations (RVCL-S): a role for neuroinflammation? 38
28794152 2017
29
DNase-active TREX1 frame-shift mutants induce serologic autoimmunity in mice. 38
28325644 2017
30
Effects of different activation protocols on cleavage rate and blastocyst production of caprine oocytes. 38
29387095 2017
31
Effect of Ca Ionophore On Blastocyst Production Following Intracytoplasmic Sperm Injection in Caprine Oocytes. 38
27170442 2016
32
A 44-year-old man with eye, kidney, and brain dysfunction. 38
26691497 2016
33
Generation of parthenogenetic goat blastocysts: effects of different activation methods and culture media. 38
24405529 2015
34
Multiple sclerosis-like lesions and type I interferon signature in a patient with RVCL. 38
25566545 2015
35
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. 38
25213617 2015
36
[Genetic aspects of migraine]. 38
26356526 2015
37
Neuropathology and genetics of cerebroretinal vasculopathies. 38
25323666 2014
38
Assessment of developmental potential of caprine cloned embryos with ooplasm replenishment under two culture media. 38
24619214 2014
39
In vitro development of goat-sheep and goat-goat zona-free cloned embryos in different culture media. 38
24210966 2014
40
Developmental potency of pre-implant parthenogenetic goat embryos: effect of activation protocols and culture media. 38
23982915 2014
41
Adult-Onset Genetic Leukoencephalopathies. Focus on the More Recently Defined Forms. 38
25323877 2014
42
A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain. 38
23602593 2013
43
Molecular basis of young ischemic stroke. 38
23895686 2013
44
Genetic determinants of juvenile stroke. 38
22113147 2012
45
[Cortical spreading depression and molecular genetics in migraine]. 38
23196498 2012
46
Novel ophthalmic pathology in an autopsy case of autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 38
21131853 2011
47
Production of interspecies handmade cloned embryos by nuclear transfer of cattle, goat and rat fibroblasts to buffalo (Bubalus bubalis) oocytes. 38
21288667 2011
48
Review: molecular genetics and pathology of hereditary small vessel diseases of the brain. 38
21062344 2011
49
Migraine and genetic and acquired vasculopathies. 38
19689610 2009
50
Hand-made cloned buffalo (Bubalus bubalis) embryos: comparison of different media and culture systems. 38
18800862 2008
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Variations for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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

6 (show top 50) (show all 51)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TREX1 NM_033629.6(TREX1): c.703dup (p.Val235fs) duplication Pathogenic rs1553820434 3:48508757-48508757 3:48467358-48467358
2 TREX1 NM_033629.6(TREX1): c.52G> A (p.Asp18Asn) single nucleotide variant Pathogenic rs121908117 3:48508106-48508106 3:48466707-48466707
3 TREX1 TREX1, 1-BP INS, 3688G insertion Pathogenic
4 TREX1 NM_033629.6(TREX1): c.703_706dup (p.Thr236fs) duplication Pathogenic 3:48508757-48508760 3:48467358-48467361
5 TREX1 NM_033629.6(TREX1): c.868_885del (p.Pro290_Ala295del) deletion Pathogenic rs79318303 3:48508922-48508939 3:48467523-48467540
6 TREX1 NM_033629.6(TREX1): c.340C> T (p.Arg114Cys) single nucleotide variant Likely pathogenic rs760838030 3:48508394-48508394 3:48466995-48466995
7 TREX1 NM_033629.6(TREX1): c.829A> T (p.Lys277Ter) single nucleotide variant Likely pathogenic rs1553820518 3:48508883-48508883 3:48467484-48467484
8 TREX1 NM_033629.6(TREX1): c.219G> A (p.Pro73=) single nucleotide variant Conflicting interpretations of pathogenicity rs778992418 3:48508273-48508273 3:48466874-48466874
9 TREX1 NM_033629.6(TREX1): c.294dup (p.Cys99fs) duplication Conflicting interpretations of pathogenicity rs760594164 3:48508348-48508348 3:48466949-48466949
10 TREX1 NM_033629.6(TREX1): c.341G> A (p.Arg114His) single nucleotide variant Conflicting interpretations of pathogenicity rs72556554 3:48508395-48508395 3:48466996-48466996
11 TREX1 NM_033629.6(TREX1): c.797A> G (p.Glu266Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs55999987 3:48508851-48508851 3:48467452-48467452
12 TREX1 NM_033629.6(TREX1): c.-100C> T single nucleotide variant Uncertain significance rs886058623 3:48507635-48507635 3:48466236-48466236
13 TREX1 NM_033629.5(TREX1): c.-199A> G single nucleotide variant Uncertain significance rs767364235 3:48507536-48507536 3:48466137-48466137
14 TREX1 NM_033629.6(TREX1): c.418A> G (p.Met140Val) single nucleotide variant Uncertain significance rs761526437 3:48508472-48508472 3:48467073-48467073
15 TREX1 NM_033629.6(TREX1): c.9G> A (p.Ser3=) single nucleotide variant Uncertain significance rs762687506 3:48508063-48508063 3:48466664-48466664
16 TREX1 NM_033629.5(TREX1): c.-206G> T single nucleotide variant Uncertain significance rs886058622 3:48507529-48507529 3:48466130-48466130
17 TREX1 NM_033629.5(TREX1): c.-287C> T single nucleotide variant Uncertain significance rs377157141 3:48507448-48507448 3:48466049-48466049
18 TREX1 NM_033629.6(TREX1): c.536T> C (p.Leu179Pro) single nucleotide variant Uncertain significance rs886058625 3:48508590-48508590 3:48467191-48467191
19 TREX1 NM_033629.6(TREX1): c.312G> C (p.Leu104=) single nucleotide variant Uncertain significance rs56162833 3:48508366-48508366 3:48466967-48466967
20 TREX1 NM_033629.6(TREX1): c.923C> G (p.Ser308Cys) single nucleotide variant Uncertain significance rs769885715 3:48508977-48508977 3:48467578-48467578
21 TREX1 NM_033629.5(TREX1): c.-127G> C single nucleotide variant Uncertain significance rs577465983 3:48507608-48507608 3:48466209-48466209
22 TREX1 NM_033629.6(TREX1): c.623G> C (p.Cys208Ser) single nucleotide variant Uncertain significance 3:48508677-48508677 3:48467278-48467278
23 TREX1 NM_033629.6(TREX1): c.869C> T (p.Pro290Leu) single nucleotide variant Uncertain significance 3:48508923-48508923 3:48467524-48467524
24 TREX1 NM_033629.6(TREX1): c.690G> C (p.Arg230Ser) single nucleotide variant Uncertain significance 3:48508744-48508744 3:48467345-48467345
25 TREX1 NM_033629.6(TREX1): c.338G> A (p.Arg113Gln) single nucleotide variant Uncertain significance 3:48508392-48508392 3:48466993-48466993
26 TREX1 NM_033629.6(TREX1): c.-50_-47CTGC[4] short repeat Uncertain significance rs371036312 3:48507701-48507704 3:48466302-48466305
27 TREX1 NM_033629.6(TREX1): c.907A> C (p.Thr303Pro) single nucleotide variant Uncertain significance rs76224909 3:48508961-48508961 3:48467562-48467562
28 TREX1 NM_033629.6(TREX1): c.899C> T (p.Ala300Val) single nucleotide variant Uncertain significance rs1553820567 3:48508953-48508953 3:48467554-48467554
29 TREX1 NM_033629.6(TREX1): c.218C> T (p.Pro73Leu) single nucleotide variant Uncertain significance rs755919767 3:48508272-48508272 3:48466873-48466873
30 TREX1 NM_033629.6(TREX1): c.382C> T (p.Arg128Cys) single nucleotide variant Uncertain significance rs199614534 3:48508436-48508436 3:48467037-48467037
31 TREX1 NM_033629.6(TREX1): c.739G> C (p.Ala247Pro) single nucleotide variant Uncertain significance 3:48508793-48508793 3:48467394-48467394
32 TREX1 NM_033629.6(TREX1): c.784C> T (p.Pro262Ser) single nucleotide variant Uncertain significance 3:48508838-48508838 3:48467439-48467439
33 TREX1 NM_033629.6(TREX1): c.734C> G (p.Pro245Arg) single nucleotide variant Uncertain significance 3:48508788-48508788 3:48467389-48467389
34 TREX1 NM_033629.6(TREX1): c.640G> A (p.Ala214Thr) single nucleotide variant Uncertain significance 3:48508694-48508694 3:48467295-48467295
35 TREX1 NM_033629.6(TREX1): c.251T> C (p.Ile84Thr) single nucleotide variant Uncertain significance 3:48508305-48508305 3:48466906-48466906
36 TREX1 NM_033629.6(TREX1): c.250A> G (p.Ile84Val) single nucleotide variant Uncertain significance 3:48508304-48508304 3:48466905-48466905
37 TREX1 NM_033629.6(TREX1): c.587C> T (p.Thr196Met) single nucleotide variant Uncertain significance rs754998766 3:48508641-48508641 3:48467242-48467242
38 TREX1 NM_033629.6(TREX1): c.484C> T (p.Leu162=) single nucleotide variant Likely benign rs1553820257 3:48508538-48508538 3:48467139-48467139
39 TREX1 NM_033629.5(TREX1): c.-117C> T single nucleotide variant Likely benign rs548710061 3:48507618-48507618 3:48466219-48466219
40 TREX1 NM_033629.6(TREX1): c.183G> A (p.Pro61=) single nucleotide variant Likely benign rs55852466 3:48508237-48508237 3:48466838-48466838
41 TREX1 NM_033629.6(TREX1): c.394C> G (p.Pro132Ala) single nucleotide variant Likely benign rs200510205 3:48508448-48508448 3:48467049-48467049
42 TREX1 NM_033629.6(TREX1): c.-60C> T single nucleotide variant Likely benign rs2279076 3:48507675-48507675 3:48466276-48466276
43 TREX1 NM_033629.4(TREX1): c.-510delC deletion Likely benign rs3135939 3:48507225-48507225 3:48465826-48465826
44 TREX1 NM_033629.5(TREX1): c.-515T> C single nucleotide variant Likely benign rs148393533 3:48507220-48507220 3:48465821-48465821
45 TREX1 NM_033629.6(TREX1): c.198G> A (p.Lys66=) single nucleotide variant Benign/Likely benign rs3135943 3:48508252-48508252 3:48466853-48466853
46 TREX1 NM_033629.6(TREX1): c.462T> C (p.Asp154=) single nucleotide variant Benign/Likely benign rs3135944 3:48508516-48508516 3:48467117-48467117
47 TREX1 NM_033629.6(TREX1): c.*37T> C single nucleotide variant Benign rs3135946 3:48509036-48509036 3:48467637-48467637
48 TREX1 NM_033629.6(TREX1): c.-68T> C single nucleotide variant Benign rs3135941 3:48507667-48507667 3:48466268-48466268
49 TREX1 NM_033629.6(TREX1): c.531= (p.Tyr177=) single nucleotide variant Benign rs11797 3:48508585-48508585 3:48467186-48467186
50 TREX1 NM_033629.6(TREX1): c.912G> A (p.Leu304=) single nucleotide variant Benign rs3135945 3:48508966-48508966 3:48467567-48467567
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Expression for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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Search GEO for disease gene expression data for Vasculopathy, Retinal, with Cerebral Leukodystrophy.
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Pathways for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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

37
# 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
Chks in Checkpoint Regulation 64
Show member pathways
 11.56 TREX1 ATRIP
2
DNA Damage Response 1
Show member pathways
 10.99 SHISA5 ATRIP
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GO Terms for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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

# Name GO ID Score Top Affiliating Genes
1 nuclear envelope GO:0005635 8.62 TREX1 SHISA5

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

# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.16 TREX1 ATRIP
2 DNA replication GO:0006260 8.96 TREX1 ATRIP
3 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

Sources for Vasculopathy, Retinal, with Cerebral Leukodystrophy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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