U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Coronary artery disease, autosomal dominant 2(ADCAD2)

MedGen UID:
370259
Concept ID:
C1970440
Disease or Syndrome
Synonym: ADCAD2
 
Gene (location): LRP6 (12p13.2)
 
Monarch Initiative: MONDO:0012586
OMIM®: 610947

Definition

Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene. [from MONDO]

Clinical features

From HPO
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Myocardial infarction
MedGen UID:
10150
Concept ID:
C0027051
Disease or Syndrome
Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.
Premature coronary artery atherosclerosis
MedGen UID:
356830
Concept ID:
C1867743
Disease or Syndrome
Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.
Gout
MedGen UID:
42280
Concept ID:
C0018099
Disease or Syndrome
Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Type 2 diabetes mellitus
MedGen UID:
41523
Concept ID:
C0011860
Disease or Syndrome
WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.
Impaired glucose tolerance
MedGen UID:
852424
Concept ID:
C0151671
Finding
An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.
Glucose intolerance
MedGen UID:
75760
Concept ID:
C0271650
Disease or Syndrome
Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).
Increased LDL cholesterol concentration
MedGen UID:
154289
Concept ID:
C0549399
Finding
An elevated concentration of low-density lipoprotein cholesterol in the blood.
Hypertriglyceridemia
MedGen UID:
167238
Concept ID:
C0813230
Finding
An abnormal increase in the level of triglycerides in the blood.

Professional guidelines

PubMed

Reddy LL, Shah SAV, Ashavaid TF
Indian Heart J 2022 Jan-Feb;74(1):1-6. Epub 2021 Dec 4 doi: 10.1016/j.ihj.2021.11.185. PMID: 34875256Free PMC Article
Yang B, Wang Q, Wang R, Xu T
Kidney Blood Press Res 2018;43(6):1806-1812. Epub 2018 Nov 30 doi: 10.1159/000495638. PMID: 30504716
Kaadan MI, MacDonald C, Ponzini F, Duran J, Newell K, Pitler L, Lin A, Weinberg I, Wood MJ, Lindsay ME
Circ Genom Precis Med 2018 Apr;11(4):e001933. doi: 10.1161/CIRCGENETICS.117.001933. PMID: 29650765

Recent clinical studies

Etiology

Kou H, Wang H, Liu P, Wang X, Zhu W, Jiang W, Hu X, Deng J
BMC Cardiovasc Disord 2024 Mar 5;24(1):144. doi: 10.1186/s12872-024-03803-4. PMID: 38443803Free PMC Article
Waluś-Miarka M, Polus A, Idzior-Waluś B
Kardiol Pol 2024;82(2):144-155. Epub 2024 Feb 13 doi: 10.33963/v.phj.98945. PMID: 38348620
Loh WJ, Chang X, Aw TC, Phua SK, Low AF, Chan MY, Watts GF, Heng CK
Atherosclerosis 2022 May;349:160-165. Epub 2021 Nov 26 doi: 10.1016/j.atherosclerosis.2021.11.018. PMID: 34887076
Koopal C, Marais AD, Westerink J, Visseren FL
J Clin Lipidol 2017 Jan-Feb;11(1):12-23.e1. Epub 2016 Oct 13 doi: 10.1016/j.jacl.2016.10.001. PMID: 28391878
Saenen JB, Van Craenenbroeck EM, Proost D, Marchau F, Van Laer L, Vrints CJ, Loeys BL
Clin Genet 2015 Aug;88(2):101-13. Epub 2014 Nov 22 doi: 10.1111/cge.12519. PMID: 25307320

Diagnosis

Kou H, Wang H, Liu P, Wang X, Zhu W, Jiang W, Hu X, Deng J
BMC Cardiovasc Disord 2024 Mar 5;24(1):144. doi: 10.1186/s12872-024-03803-4. PMID: 38443803Free PMC Article
Anderson S, Botti C
J Am Assoc Nurse Pract 2024 Feb 1;36(2):136-142. doi: 10.1097/JXX.0000000000000930. PMID: 37624754
Loh WJ, Chang X, Aw TC, Phua SK, Low AF, Chan MY, Watts GF, Heng CK
Atherosclerosis 2022 May;349:160-165. Epub 2021 Nov 26 doi: 10.1016/j.atherosclerosis.2021.11.018. PMID: 34887076
Ellis KL, Pang J, Schultz CJ, Watts GF
Eur J Prev Cardiol 2017 Jul;24(11):1200-1205. Epub 2017 May 9 doi: 10.1177/2047487317708890. PMID: 28482694
Koopal C, Marais AD, Westerink J, Visseren FL
J Clin Lipidol 2017 Jan-Feb;11(1):12-23.e1. Epub 2016 Oct 13 doi: 10.1016/j.jacl.2016.10.001. PMID: 28391878

Therapy

Kou H, Wang H, Liu P, Wang X, Zhu W, Jiang W, Hu X, Deng J
BMC Cardiovasc Disord 2024 Mar 5;24(1):144. doi: 10.1186/s12872-024-03803-4. PMID: 38443803Free PMC Article
Waluś-Miarka M, Polus A, Idzior-Waluś B
Kardiol Pol 2024;82(2):144-155. Epub 2024 Feb 13 doi: 10.33963/v.phj.98945. PMID: 38348620
Anderson S, Botti C
J Am Assoc Nurse Pract 2024 Feb 1;36(2):136-142. doi: 10.1097/JXX.0000000000000930. PMID: 37624754
Park K, Vishnevetskaya K, Vaidyanathan J, Burckart GJ, Green DJ
J Clin Pharmacol 2022 Mar;62(3):397-408. Epub 2021 Oct 19 doi: 10.1002/jcph.1973. PMID: 34562277
Ellis KL, Pang J, Schultz CJ, Watts GF
Eur J Prev Cardiol 2017 Jul;24(11):1200-1205. Epub 2017 May 9 doi: 10.1177/2047487317708890. PMID: 28482694

Prognosis

Tamehri Zadeh SS, Chan DC, Mata P, Watts GF
Curr Opin Endocrinol Diabetes Obes 2025 Apr 1;32(2):45-51. Epub 2024 Jul 4 doi: 10.1097/MED.0000000000000874. PMID: 38966915
Kou H, Wang H, Liu P, Wang X, Zhu W, Jiang W, Hu X, Deng J
BMC Cardiovasc Disord 2024 Mar 5;24(1):144. doi: 10.1186/s12872-024-03803-4. PMID: 38443803Free PMC Article
Waluś-Miarka M, Polus A, Idzior-Waluś B
Kardiol Pol 2024;82(2):144-155. Epub 2024 Feb 13 doi: 10.33963/v.phj.98945. PMID: 38348620
Loh WJ, Chang X, Aw TC, Phua SK, Low AF, Chan MY, Watts GF, Heng CK
Atherosclerosis 2022 May;349:160-165. Epub 2021 Nov 26 doi: 10.1016/j.atherosclerosis.2021.11.018. PMID: 34887076
Ugovšek S, Šebeštjen M
Biomolecules 2021 Dec 24;12(1) doi: 10.3390/biom12010026. PMID: 35053174Free PMC Article

Clinical prediction guides

Tamehri Zadeh SS, Chan DC, Mata P, Watts GF
Curr Opin Endocrinol Diabetes Obes 2025 Apr 1;32(2):45-51. Epub 2024 Jul 4 doi: 10.1097/MED.0000000000000874. PMID: 38966915
Kou H, Wang H, Liu P, Wang X, Zhu W, Jiang W, Hu X, Deng J
BMC Cardiovasc Disord 2024 Mar 5;24(1):144. doi: 10.1186/s12872-024-03803-4. PMID: 38443803Free PMC Article
Waluś-Miarka M, Polus A, Idzior-Waluś B
Kardiol Pol 2024;82(2):144-155. Epub 2024 Feb 13 doi: 10.33963/v.phj.98945. PMID: 38348620
Loh WJ, Chang X, Aw TC, Phua SK, Low AF, Chan MY, Watts GF, Heng CK
Atherosclerosis 2022 May;349:160-165. Epub 2021 Nov 26 doi: 10.1016/j.atherosclerosis.2021.11.018. PMID: 34887076
Ugovšek S, Šebeštjen M
Biomolecules 2021 Dec 24;12(1) doi: 10.3390/biom12010026. PMID: 35053174Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...