MCID: ART140
MIFTS: 65

Arteries, Anomalies of

Categories: Cardiovascular diseases

Aliases & Classifications for Arteries, Anomalies of

MalaCards integrated aliases for Arteries, Anomalies of:

Name: Arteries, Anomalies of 57
Artery Disease 12 15
Arteriopathic Disease 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
arteries, anomalies of:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 108000
Disease Ontology 12 DOID:0050828
MedGen 42 C1876179
SNOMED-CT via HPO 69 263681008 49601007
UMLS 73 C0852949

Summaries for Arteries, Anomalies of

Disease Ontology : 12 A vascular disease that is located in an artery.

MalaCards based summary : Arteries, Anomalies of, also known as artery disease, is related to peripheral artery disease and carotid artery disease. An important gene associated with Arteries, Anomalies of is REN (Renin), and among its related pathways/superpathways are Vesicle-mediated transport and p70S6K Signaling. Affiliated tissues include heart, endothelial and testes, and related phenotypes are abnormality of the cardiovascular system and Decreased free cholesterol

Description from OMIM: 108000

Related Diseases for Arteries, Anomalies of

Diseases related to Arteries, Anomalies of via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 623)
# Related Disease Score Top Affiliating Genes
1 peripheral artery disease 34.2 ACE APOB CRP IL6 NOS3 VCAM1
2 carotid artery disease 34.1 ACE APOA1 APOB APOE COG2 CRP
3 renal artery disease 33.8 ACE AGTR1 NOS3 REN
4 pulmonary artery disease 33.7 TNNI3 PLG ALB
5 coronary artery anomaly 33.6 ACE AGTR1 APOA1 APOB COG2 CRP
6 peripheral vascular disease 33.4 ACE ALB APOA1 APOB CRP IL6
7 hyperlipoproteinemia, type iii 33.1 APOA1 APOB APOE COG2 LPA
8 hypercholesterolemia, familial 32.8 ACE APOA1 APOB APOE COG2 CRP
9 coronary heart disease 1 32.7 ACE AGTR1 APOA1 APOB APOE COG2
10 atherosclerosis susceptibility 32.6 APOA1 APOB APOE CRP IL6 INS
11 angina pectoris 32.3 ACE CRP EDN1 IL6 NOS3
12 pulmonary embolism 32.2 ALB CRP TNNI3
13 hyperlipidemia, familial combined 32.2 LPA COG2 APOB APOA1
14 aortic disease 32.2 REN IL6 CRP APOE
15 fibromuscular dysplasia 32.2 REN AGTR1 ACE
16 tangier disease 32.1 LPA APOE APOB APOA1
17 arteriosclerosis 32.1 ACE APOA1 APOB APOE COG2 CRP
18 myocardial infarction 32.1 TNNI3 REN PLG NOS3 LPA INS
19 heart disease 31.9 ACE AGTR1 ALB APOA1 APOB APOE
20 hypercholesterolemia, autosomal dominant, type b 31.8 APOB APOE
21 stroke, ischemic 31.4 ACE AGTR1 APOB APOE COG2 CRP
22 ischemia 31.4 TRPV1 NOS3 EDN1 ACE
23 intermittent claudication 31.1 IL6 CRP ALB ACE
24 diabetes mellitus 31.0 ACE AGTR1 ALB APOA1 APOB COG2
25 limb ischemia 31.0 ACE EDN1 IL6 NOS3 TNNI3
26 coronary stenosis 30.9 ACE ALB APOA1 APOB APOE CRP
27 aortic valve disease 2 30.8 ACE CRP REN
28 carotid stenosis 30.8 CRP APOE ACE
29 aortic aneurysm, familial abdominal, 1 30.8 IL6 CRP APOE ACE
30 acute myocardial infarction 30.8 ACE AGTR1 APOA1 APOB CRP EDN1
31 diabetes mellitus, noninsulin-dependent 30.7 AGTR1 ALB APOA1 APOB APOE COG2
32 kidney disease 30.6 ACE AGTR1 ALB APOE CRP EDN1
33 congestive heart failure 30.6 REN EDN1 AGTR1 ACE
34 sleep apnea 30.6 ACE APOE CRP EDN1 IL6 INS
35 chronic kidney failure 30.5 ACE AGTR1 ALB APOB CRP EDN1
36 systolic heart failure 30.5 IL6 EDN1 CRP ACE
37 aortic coarctation 30.5 NOS3 EDN1 AGTR1 ACE
38 vascular disease 30.5 ACE ALB APOA1 APOB APOE CRP
39 cerebrovascular disease 30.5 ACE AGTR1 APOA1 APOB APOE CRP
40 nonalcoholic fatty liver disease 30.5 INS IL6 CRP APOB
41 aortic atherosclerosis 30.5 LPA APOE ACE
42 ischemic heart disease 30.4 ACE APOA1 APOB APOE CRP IL6
43 hyperuricemia 30.4 REN INS CRP APOB
44 end stage renal failure 30.3 ACE AGTR1 ALB APOB CRP IL6
45 lipid metabolism disorder 30.3 ACE APOA1 APOB APOE COG2 CRP
46 uremia 30.3 ALB CRP INS
47 kawasaki disease 30.3 ALB CRP IL6
48 microvascular complications of diabetes 3 30.2 INS ALB AGTR1 ACE
49 myocardial stunning 30.2 TNNI3 EDN1 AGTR1
50 dilated cardiomyopathy 30.2 ACE AGTR1 ALB CRP EDN1 IL6

Graphical network of the top 20 diseases related to Arteries, Anomalies of:



Diseases related to Arteries, Anomalies of

Symptoms & Phenotypes for Arteries, Anomalies of

Symptoms via clinical synopsis from OMIM:

57
Vascular:
abnormal radial, ulnar, or interosseous artery


Clinical features from OMIM:

108000

Human phenotypes related to Arteries, Anomalies of:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the cardiovascular system 32 HP:0001626

GenomeRNAi Phenotypes related to Arteries, Anomalies of according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.92 APOA1 APOB APOE LPA

MGI Mouse Phenotypes related to Arteries, Anomalies of:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.35 ACE AGTR1 APOA1 APOB APOE CRP
2 homeostasis/metabolism MP:0005376 10.31 ACE AGTR1 ALB APOA1 APOB APOE
3 growth/size/body region MP:0005378 10.25 ACE AGTR1 APOB APOE COG2 EDN1
4 immune system MP:0005387 10.15 ACE AGTR1 APOB APOE CRP IL6
5 endocrine/exocrine gland MP:0005379 10.11 ACE ALB APOA1 APOE EDN1 IL6
6 mortality/aging MP:0010768 10.07 ACE AGTR1 ALB APOB APOE EDN1
7 adipose tissue MP:0005375 10.04 ACE AGTR1 APOE IL6 INS NOS3
8 liver/biliary system MP:0005370 10.02 ACE ALB APOA1 APOB APOE IL6
9 muscle MP:0005369 9.81 ALB APOB APOE EDN1 IL6 INS
10 renal/urinary system MP:0005367 9.7 ACE AGTR1 ALB APOE EDN1 IL6
11 reproductive system MP:0005389 9.28 ACE APOB APOE IL6 INS NOS3

Drugs & Therapeutics for Arteries, Anomalies of

Search Clinical Trials , NIH Clinical Center for Arteries, Anomalies of

Genetic Tests for Arteries, Anomalies of

Anatomical Context for Arteries, Anomalies of

MalaCards organs/tissues related to Arteries, Anomalies of:

41
Heart, Endothelial, Testes, Kidney, Bone, Monocytes, Liver

The Foundational Model of Anatomy Ontology organs/tissues related to Arteries, Anomalies of:

19
An Artery

Publications for Arteries, Anomalies of

Articles related to Arteries, Anomalies of:

(show top 50) (show all 7202)
# Title Authors Year
1
Seasonal and circadian patterns of myocardial infarction by coronary artery disease status and sex in the ACTION Registry-GWTG. ( 30217419 )
2019
2
Management of established coronary artery disease in aircrew with previous myocardial infarction or revascularisation. ( 30425084 )
2019
3
Management of established coronary artery disease in aircrew without myocardial infarction or revascularisation. ( 30425083 )
2019
4
The role of sphingosine 1 phosphate in coronary artery disease and ischemia reperfusion injury. ( 30341893 )
2019
5
Comprehensive MS/MS profiling by UHPLC-ESI-QTOF-MS/MS using SWATH data-independent acquisition for the study of platelet lipidomes in coronary artery disease. ( 30482286 )
2019
6
The challenge of asymptomatic coronary artery disease in aircrew; detecting plaque before the accident. ( 30425082 )
2019
7
Racial Disparities in the Cardiac Computed Tomography Assessment of Coronary Artery Disease: Does Gender Matter. ( 30520779 )
2019
8
Urinary 8-iso-prostaglandin F2α as a risk marker for the vulnerability of culprit plaque in diabetic patients with stable coronary artery disease. ( 30553398 )
2019
9
Clinical utility of circulating interleukin-6 concentrations in the detection of functionally relevant coronary artery disease. ( 30340850 )
2019
10
Quantitative and systems pharmacology 4. Network-based analysis of drug pleiotropy on coronary artery disease. ( 30359818 )
2019
11
Accuracy of cadmium-zinc-telluride imaging in detecting single and multivessel coronary artery disease: Is there any gender difference? ( 30282601 )
2019
12
Association of Increased Levels of lncRNA H19 in PBMCs with Risk of Coronary Artery Disease. ( 30124004 )
2019
13
Droplet digital PCR of serum miR-499, miR-21 and miR-208a for the detection of functionally relevant coronary artery disease. ( 30126654 )
2019
14
CPAP effects on atherosclerotic plaques in patients with sleep-disordered breathing and coronary artery disease: The ENTERPRISE trial. ( 30177302 )
2019
15
Clinical impact of high-sensitivity C-reactive protein during follow-up on long-term adverse clinical outcomes in patients with coronary artery disease treated with percutaneous coronary intervention. ( 30001869 )
2019
16
Time trends in peripheral artery disease incidence, prevalence and secondary preventive therapy: a cohort study in The Health Improvement Network in the UK. ( 29358428 )
2018
17
Epicardial adipose tissue and carotid artery disease: Protocol for systematic review and meta-analysis. ( 29702973 )
2018
18
Peripheral Artery Disease and Continuous Flow Left Ventricle Assist Device: An Engaging Complement Analysis May Help to Guide Treatment. ( 29436002 )
2018
19
Novel Biomarkers for Coronary Restenosis Occurrence After Drug-Eluting Stent Implantation in Patients With Diabetes Having Stable Coronary Artery Disease. ( 29716394 )
2018
20
Microfibrillar-associated protein 4 variation in symptomatic peripheral artery disease. ( 29884190 )
2018
21
Validation of Multiparametric Ultrasonography Criteria with Digital Subtraction Angiography in Carotid Artery Disease: A Prospective Multicenter Study. ( 29797307 )
2018
22
Effect of cilostazol on platelet reactivity among patients with peripheral artery disease on clopidogrel therapy. ( 29408797 )
2018
23
Statin prescription rates and their facility-level variation in patients with peripheral artery disease and ischemic cerebrovascular disease: Insights from the Department of Veterans Affairs. ( 29600737 )
2018
24
The Role of Neurosonology in the Diagnosis and Management of Patients with Carotid Artery Disease: A Review. ( 29334161 )
2018
25
Beet the Best? Dietary Inorganic Nitrate to Augment Exercise Training in Lower Extremity Peripheral Artery Disease with Intermittent Claudication. ( 29976553 )
2018
26
Lipid-lowering treatment in peripheral artery disease. ( 29413998 )
2018
27
Revisiting angina pectoris with and without obstructive coronary artery disease. ( 29905817 )
2018
28
Ischemic stroke/transient ischemic attack events and carotid artery disease in the absence of or with minimal coronary artery calcification: Results from the Multi-Ethnic Study of Atherosclerosis. ( 29852401 )
2018
29
Under-utilization of statin medications in patients with peripheral artery disease or cerebrovascular disease. ( 29600738 )
2018
30
Incidence, timing, and type of first and recurrent ischemic events in patients with and without peripheral artery disease after an acute coronary syndrome. ( 29910052 )
2018
31
High serum leptin level is associated with peripheral artery disease in adult peritoneal dialysis patients. ( 29875588 )
2018
32
Review of biologic and behavioral risk factors linking depression and peripheral artery disease. ( 29801423 )
2018
33
Improvement of bilateral lower-limb muscle oxygenation by low-density lipoprotein apheresis in a patient with peripheral artery disease undergoing hemodialysis. ( 29422296 )
2018
34
Peripheral artery disease: How do genes and pharmacology interplay? ( 29894588 )
2018
35
Non-ST Elevation Myocardial Infarction and Severe Peripheral Artery Disease in a 20-Year-Old with Perinatally Acquired Human Immunodeficiency Virus Infection. ( 29808134 )
2018
36
Flip-Flop Phenomenon: Swallowing-Induced Arterial Displacement as an Indicator of Carotid Artery Disease. ( 29879697 )
2018
37
High-Sensitivity Cardiac Troponin I and the Diagnosis of Coronary Artery Disease in Patients With Suspected Angina Pectoris. ( 29444926 )
2018
38
Association between periodontitis and peripheral artery disease: a systematic review and meta-analysis. ( 29980169 )
2018
39
PCSK9 inhibition for LDL lowering and beyond - implications for patients with peripheral artery disease. ( 29412075 )
2018
40
Dual Anticoagulant and Antiplatelet Therapy for Coronary Artery Disease and Peripheral Artery Disease Patients. ( 29449336 )
2018
41
Translation and Validation of the Brazilian-Portuguese Short Version of Vascular Quality of Life Questionnaire in Peripheral Artery Disease Patients with Intermittent Claudication Symptoms. ( 29772330 )
2018
42
The effect of rheumatoid arthritis on the risk of cerebrovascular disease and coronary artery disease in young adults. ( 29861211 )
2018
43
Could the stress hyperglycemia ratio predict the clinical outcomes of coronary artery disease patients after percutaneous coronary intervention? ( 29407118 )
2018
44
Neovascularization in Vertebral Artery Atheroma-A Dynamic Contrast-Enhanced Magnetic Resonance Imaging-Based Comparative Study in Patients with Symptomatic and Asymptomatic Carotid Artery Disease. ( 29805083 )
2018
45
Critical Appraisal of the Quality of Evidence Addressing the Diagnosis, Prognosis, and Management of Peripheral Artery Disease in Patients With Diabetic Foot Ulceration. ( 29909087 )
2018
46
Multidetector CT angiography of the Circle of Willis: association of its variants with carotid artery disease and brain ischemia. ( 29922933 )
2018
47
Rivaroxaban plus aspirin, compared with aspirin alone, reduced cardiovascular events in patients with stable peripheral or carotid artery disease, but increased the risk of major bleeding. ( 29650723 )
2018
48
Improvement of the Quality of Evidence of Peripheral Artery Disease in Diabetic Foot Ulceration: Small Step for a Doctor, Giant Leap for Mankind? ( 29898825 )
2018
49
A Network-Biology Informed Computational Drug Repositioning Strategy to Target Disease Risk Trajectories and Comorbidities of Peripheral Artery Disease. ( 29888052 )
2018
50
The role of magnetic resonance angiography in peripheral artery disease. ( 29860155 )
2018

Variations for Arteries, Anomalies of

Expression for Arteries, Anomalies of

Search GEO for disease gene expression data for Arteries, Anomalies of.

Pathways for Arteries, Anomalies of

Pathways related to Arteries, Anomalies of according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.2 AGTR1 ALB APOA1 APOB APOE COG2
2
Show member pathways
12.9 ACE AGTR1 IL6 INS REN VCAM1
3
Show member pathways
12.43 ALB APOA1 APOB APOE LPA
4 11.86 ALB APOA1 APOE TNNI3
5
Show member pathways
11.81 APOA1 APOB APOE LPA
6
Show member pathways
11.72 ALB APOA1 APOB APOE
7 11.68 ALB IL6 INS TNNI3 VCAM1
8 11.67 EDN1 IL6 INS NOS3
9
Show member pathways
11.56 ALB APOA1 APOB APOE CRP IL6
10
Show member pathways
11.53 ACE AGTR1 NOS3 REN
11 11.51 ACE AGTR1 REN
12 11.35 AGTR1 EDN1 IL6 NOS3 VCAM1
13 11.33 ALB APOA1 INS
14 11.24 APOB IL6 LPA PLG
15 11.2 APOA1 IL6 VCAM1

GO Terms for Arteries, Anomalies of

Cellular components related to Arteries, Anomalies of according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.93 ACE ALB APOA1 APOB APOE CRP
2 early endosome GO:0005769 9.8 APOA1 APOB APOE VCAM1
3 blood microparticle GO:0072562 9.78 ALB APOA1 APOE PLG
4 endoplasmic reticulum lumen GO:0005788 9.73 ALB APOA1 APOB APOE IL6 INS
5 very-low-density lipoprotein particle GO:0034361 9.61 APOA1 APOB APOE
6 endocytic vesicle lumen GO:0071682 9.58 APOA1 APOB APOE
7 low-density lipoprotein particle GO:0034362 9.54 APOA1 APOB APOE
8 chylomicron GO:0042627 9.5 APOA1 APOB APOE
9 discoidal high-density lipoprotein particle GO:0034365 9.46 APOA1 APOE
10 extracellular space GO:0005615 9.44 ACE ALB APOA1 APOB APOE CRP
11 intermediate-density lipoprotein particle GO:0034363 9.13 APOA1 APOB APOE

Biological processes related to Arteries, Anomalies of according to GeneCards Suite gene sharing:

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.95 ALB APOA1 APOB APOE
2 lipid transport GO:0006869 9.88 APOA1 APOB APOE LPA
3 cholesterol homeostasis GO:0042632 9.87 APOA1 APOB APOE
4 cholesterol metabolic process GO:0008203 9.86 APOA1 APOB APOE
5 cellular response to tumor necrosis factor GO:0071356 9.86 APOB EDN1 TRPV1 VCAM1
6 retinoid metabolic process GO:0001523 9.8 APOA1 APOB APOE
7 response to lipopolysaccharide GO:0032496 9.8 APOB EDN1 NOS3 REN VCAM1
8 acute-phase response GO:0006953 9.74 CRP IL6 INS
9 regulation of blood pressure GO:0008217 9.73 ACE EDN1 NOS3 REN
10 triglyceride catabolic process GO:0019433 9.71 APOA1 APOB APOE
11 amyloid-beta metabolic process GO:0050435 9.7 ACE REN
12 regulation of blood vessel diameter GO:0097746 9.7 ACE AGTR1
13 cholesterol efflux GO:0033344 9.7 APOA1 APOB APOE
14 high-density lipoprotein particle assembly GO:0034380 9.69 APOA1 APOE
15 lipoprotein metabolic process GO:0042157 9.69 APOA1 APOB APOE
16 phospholipid efflux GO:0033700 9.68 APOA1 APOE
17 angiotensin maturation GO:0002003 9.68 ACE REN
18 high-density lipoprotein particle clearance GO:0034384 9.68 APOA1 APOE
19 negative regulation of blood vessel diameter GO:0097756 9.68 CRP INS
20 positive regulation of systemic arterial blood pressure GO:0003084 9.67 ACE ENSG00000264813
21 negative regulation of lipid storage GO:0010888 9.67 CRP IL6
22 negative regulation of platelet activation GO:0010544 9.67 APOE NOS3
23 regulation of vasoconstriction GO:0019229 9.67 ACE AGTR1 EDN1
24 very-low-density lipoprotein particle remodeling GO:0034372 9.66 APOA1 APOE
25 chylomicron remnant clearance GO:0034382 9.66 APOB APOE
26 neutrophil mediated immunity GO:0002446 9.65 ACE IL6
27 high-density lipoprotein particle remodeling GO:0034375 9.65 ALB APOA1 APOE
28 negative regulation of hydrolase activity GO:0051346 9.64 APOA1 NOS3
29 regulation of Cdc42 protein signal transduction GO:0032489 9.64 APOA1 APOE
30 regulation of cholesterol transport GO:0032374 9.63 APOA1 APOE
31 positive regulation of lipid biosynthetic process GO:0046889 9.63 APOA1 APOE INS
32 negative regulation of cellular protein metabolic process GO:0032269 9.62 APOE EDN1
33 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.62 EDN1 NOS3
34 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.61 ACE AGTR1
35 very-low-density lipoprotein particle clearance GO:0034447 9.61 APOB APOE
36 positive regulation of dendritic spine maintenance GO:1902952 9.59 APOE INS
37 renin-angiotensin regulation of aldosterone production GO:0002018 9.58 AGTR1 REN
38 lipoprotein catabolic process GO:0042159 9.55 APOB APOE
39 chylomicron assembly GO:0034378 9.54 APOA1 APOB APOE
40 positive regulation of cholesterol esterification GO:0010873 9.5 AGTR1 APOA1 APOE
41 chylomicron remodeling GO:0034371 9.43 APOA1 APOB APOE
42 lipoprotein biosynthetic process GO:0042158 9.33 APOA1 APOB APOE
43 low-density lipoprotein particle remodeling GO:0034374 9.26 AGTR1 APOB APOE LPA
44 cellular protein metabolic process GO:0044267 9.17 ALB APOA1 APOB APOE IL6 INS
45 lipid metabolic process GO:0006629 10.09 APOA1 APOB APOE LPA TRPV1
46 positive regulation of gene expression GO:0010628 10.04 APOB CRP IL6 INS NOS3
47 post-translational protein modification GO:0043687 10 ALB APOA1 APOB APOE IL6

Molecular functions related to Arteries, Anomalies of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.88 ACE ENSG00000264813 LPA PLG REN
2 endopeptidase activity GO:0004175 9.63 ACE PLG REN
3 exopeptidase activity GO:0008238 9.43 ACE ENSG00000264813
4 lipid transporter activity GO:0005319 9.43 APOA1 APOB APOE
5 lipoprotein particle binding GO:0071813 9.4 APOA1 APOE
6 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.37 APOA1 APOE
7 peptidyl-dipeptidase activity GO:0008241 9.32 ACE ENSG00000264813
8 bradykinin receptor binding GO:0031711 9.16 ACE AGTR1
9 low-density lipoprotein particle receptor binding GO:0050750 9.13 APOB APOE CRP
10 cholesterol transporter activity GO:0017127 8.8 APOA1 APOB APOE

Sources for Arteries, Anomalies of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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