ADCAD1
MCID: CRN133
MIFTS: 30

Coronary Artery Disease, Autosomal Dominant, 1 (ADCAD1)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Respiratory 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 58 76 30 13 6 74
Coronary Artery Disease with Myocardial Infarction 58 76
Adcad1 58 76
Artery, Coronary, Disease, Autosomal Dominant, Type 1 41
Coronary Artery Disease/myocardial Infarction 6

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
no history of familial hypercholesterolemia


HPO:

33
coronary artery disease, autosomal dominant, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 608320
MeSH 45 D003324
MedGen 43 C1842247
UMLS 74 C1842247

Summaries for Coronary Artery Disease, Autosomal Dominant, 1

OMIM : 58 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 arteries, anomalies of. An important gene associated with Coronary Artery Disease, Autosomal Dominant, 1 is MEF2A (Myocyte Enhancer Factor 2A). The drugs Miconazole and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and testes, and related phenotypes are hypertension and myocardial infarction

UniProtKB/Swiss-Prot : 76 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 11.5
2 arteries, anomalies of 10.0
3 myocardial infarction 10.0
4 coronary artery anomaly 10.0

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

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

33
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 myocardial infarction 33 HP:0001658
3 chest pain 33 HP:0100749
4 hypercholesterolemia 33 HP:0003124

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
coronary artery disease
no congenital heart defect
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

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 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
2
Sirolimus Approved, Investigational Phase 4 53123-88-9 46835353 5284616 6436030
3 Immunologic Factors Phase 4
4 Immunosuppressive Agents Phase 4
5 Anti-Bacterial Agents Phase 4
6 Antibiotics, Antitubercular Phase 4
7 Anti-Infective Agents Phase 4
8 Antifungal Agents Phase 4
9
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
10
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
11
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
12
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
13 Vitamins Phase 2
14 Calciferol Phase 2
15 Bone Density Conservation Agents Phase 2
16 Hormones Phase 2
17 Calcium, Dietary Phase 2
18 Micronutrients Phase 2
19 Ergocalciferols Phase 2
20 Nutrients Phase 2
21 Trace Elements Phase 2
22 Vitamin D2 Phase 2
23
Benzocaine Approved, Investigational Not Applicable 1994-09-7, 94-09-7 2337
24
tannic acid Approved Not Applicable 1401-55-4
25 Hemostatics Not Applicable
26 Coagulants 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 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 30 MEF2A

Anatomical Context for Coronary Artery Disease, Autosomal Dominant, 1

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

42
Heart, Bone, Testes

Publications for Coronary Artery Disease, Autosomal Dominant, 1

Articles related to Coronary Artery Disease, Autosomal Dominant, 1:

# Title Authors Year
1
Obesity and premature coronary artery disease with myocardial infarction in Puerto Rican young adults. ( 26742200 )
2015
2
Cadherin AdCad1 in Alphitobius diaperinus larvae is a receptor of Cry3Bb toxin from Bacillus thuringiensis. ( 24225445 )
2014
3
The Pro279Leu variant in the transcription factor MEF2A is associated with myocardial infarction. ( 15958500 )
2006
4
Lack of MEF2A mutations in coronary artery disease. ( 15841183 )
2005
5
Transcription factor MEF2A mutations in patients with coronary artery disease. ( 15496429 )
2004
6
Mutation of MEF2A in an inherited disorder with features of coronary artery disease. ( 14645853 )
2003

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.788A> G (p.Asn263Ser) single nucleotide variant Likely benign rs121918530 GRCh37 Chromosome 15, 100230557: 100230557
5 MEF2A NM_005587.3(MEF2A): c.788A> G (p.Asn263Ser) single nucleotide variant Likely benign rs121918530 GRCh38 Chromosome 15, 99690352: 99690352
6 MEF2A NM_005587.3(MEF2A): c.848G> A (p.Gly283Asp) single nucleotide variant Pathogenic rs121918531 GRCh37 Chromosome 15, 100230617: 100230617
7 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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