MCID: CRN133
MIFTS: 26

Coronary Artery Disease, Autosomal Dominant, 1

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Coronary Artery Disease, Autosomal Dominant, 1

MalaCards integrated aliases for Coronary Artery Disease, Autosomal Dominant, 1:

Name: Coronary Artery Disease, Autosomal Dominant, 1 57 75 29 13 6 73
Coronary Artery Disease with Myocardial Infarction 57 75
Adcad1 57 75
Artery, Coronary, Disease, Autosomal Dominant, Type 1 40
Coronary Artery Disease/myocardial Infarction 6

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
no history of familial hypercholesterolemia


HPO:

32
coronary artery disease, autosomal dominant, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 608320
MedGen 42 C1842247
MeSH 44 D003324
UMLS 73 C1842247

Summaries for Coronary Artery Disease, Autosomal Dominant, 1

OMIM : 57 Coronary artery disease (CAD) and its most important complication, acute myocardial infarction (MI), are leading causes of death and disability in the developed world. Multiple risk factors for CAD/MI have been identified, including family history, hypertension, hypercholesterolemia, obesity, smoking, and diabetes. Several genomewide scans of affected sib pairs have identified susceptibility loci for CAD, e.g., 607339 and 300464. (608320)

MalaCards based summary : Coronary Artery Disease, Autosomal Dominant, 1, also known as coronary artery disease with myocardial infarction, is related to morbid obesity and spermatogenic failure and coronary artery anomaly. An important gene associated with Coronary Artery Disease, Autosomal Dominant, 1 is MEF2A (Myocyte Enhancer Factor 2A). The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and bone, and related phenotypes are hypertension and myocardial infarction

UniProtKB/Swiss-Prot : 75 Coronary artery disease, autosomal dominant, 1: A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction.

Related Diseases for Coronary Artery Disease, Autosomal Dominant, 1

Diseases in the Coronary Artery Anomaly family:

Coronary Artery Disease, Autosomal Dominant, 1 Coronary Artery Disease, Autosomal Dominant 2

Diseases related to Coronary Artery Disease, Autosomal Dominant, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 morbid obesity and spermatogenic failure 11.3
2 coronary artery anomaly 9.9
3 arteries, anomalies of 9.9

Symptoms & Phenotypes for Coronary Artery Disease, Autosomal Dominant, 1

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
no congenital heart defect
coronary artery disease
history of percutaneous coronary angioplasty (ptca)
history of coronary artery bypass surgery (cabg)
coronary angiogram showing greater than 70% stenosis
more
Endocrine Features:
no insulin-dependent diabetes mellitus

Cardiovascular Vascular:
no childhood hypertension


Clinical features from OMIM:

608320

Human phenotypes related to Coronary Artery Disease, Autosomal Dominant, 1:

32
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 myocardial infarction 32 HP:0001658
3 hypercholesterolemia 32 HP:0003124

Drugs & Therapeutics for Coronary Artery Disease, Autosomal Dominant, 1

Drugs for Coronary Artery Disease, Autosomal Dominant, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
4 Anti-Bacterial Agents Phase 4
5 Antibiotics, Antitubercular Phase 4
6 Antifungal Agents Phase 4
7 Anti-Infective Agents Phase 4
8 Immunosuppressive Agents Phase 4
9
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
10
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
11
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795
12 Bone Density Conservation Agents Phase 2
13 Ergocalciferols Phase 2
14 Micronutrients Phase 2
15 Trace Elements Phase 2
16 Vitamins Phase 2
17 Calciferol Nutraceutical Phase 2
18 Vitamin D2 Nutraceutical Phase 2
19
Benzocaine Approved, Investigational Not Applicable 1994-09-7, 94-09-7 2337
20 tannic acid Approved, Nutraceutical Not Applicable
21 Coagulants Not Applicable
22 Hemostatics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 PROTECT Continued Access Post Marketing Surveillance Trial Completed NCT00846846 Phase 4
2 Vitamin D Deficiency Treatment Outcomes After Non-ST-Segment Elevation Myocardial Infarction Not yet recruiting NCT03405207 Phase 2 Vitamin D3 50000 UNT Oral Capsule;Placebo oral capsule
3 Clinical Trial to Assess the Safety of Reducing the Time of Bed Rest After Cardiac Catheterization Completed NCT01740856 Not Applicable
4 Utilisation of Telemedicine in Optimal Cardiac Rehabilitation Program in Patients After Myocardial Revascularization Recruiting NCT03375944 Not Applicable
5 Pragmatic Trial Comparing Symptom-Oriented Versus Routine Stress Testing in High-Risk Patients Undergoing Percutaneous Coronary Intervention Recruiting NCT03217877 Not Applicable
6 Comparison of 2 Hemostasis Techniques After Transradial Coronary Recruiting NCT02873871 Not Applicable

Search NIH Clinical Center for Coronary Artery Disease, Autosomal Dominant, 1

Genetic Tests for Coronary Artery Disease, Autosomal Dominant, 1

Genetic tests related to Coronary Artery Disease, Autosomal Dominant, 1:

# Genetic test Affiliating Genes
1 Coronary Artery Disease, Autosomal Dominant, 1 29 MEF2A

Anatomical Context for Coronary Artery Disease, Autosomal Dominant, 1

MalaCards organs/tissues related to Coronary Artery Disease, Autosomal Dominant, 1:

41
Heart, Testes, Bone

Publications for Coronary Artery Disease, Autosomal Dominant, 1

Variations for Coronary Artery Disease, Autosomal Dominant, 1

ClinVar genetic disease variations for Coronary Artery Disease, Autosomal Dominant, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MEF2A MEF2A, 21-BP DEL deletion Pathogenic
2 MEF2A NM_005587.3(MEF2A): c.836C> T (p.Pro279Leu) single nucleotide variant Pathogenic rs121918529 GRCh37 Chromosome 15, 100230605: 100230605
3 MEF2A NM_005587.3(MEF2A): c.836C> T (p.Pro279Leu) single nucleotide variant Pathogenic rs121918529 GRCh38 Chromosome 15, 99690400: 99690400
4 MEF2A NM_005587.3(MEF2A): c.848G> A (p.Gly283Asp) single nucleotide variant Pathogenic rs121918531 GRCh37 Chromosome 15, 100230617: 100230617
5 MEF2A NM_005587.3(MEF2A): c.848G> A (p.Gly283Asp) single nucleotide variant Pathogenic rs121918531 GRCh38 Chromosome 15, 99690412: 99690412

Expression for Coronary Artery Disease, Autosomal Dominant, 1

Search GEO for disease gene expression data for Coronary Artery Disease, Autosomal Dominant, 1.

Pathways for Coronary Artery Disease, Autosomal Dominant, 1

GO Terms for Coronary Artery Disease, Autosomal Dominant, 1

Sources for Coronary Artery Disease, Autosomal Dominant, 1

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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