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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
Type 2 diabetes mellitus is distinct from maturity-onset diabetes of the young (see 606391) in that it is polygenic, characterized by gene-gene and gene-environment interactions with onset in adulthood, usually at age 40 to 60 but occasionally in adolescence if a person is obese. The pedigrees are rarely multigenerational. The penetrance is variable, possibly 10 to 40% (Fajans et al., 2001). Persons with type 2 diabetes usually have an obese body habitus and manifestations of the so-called metabolic syndrome (see 605552), which is characterized by diabetes, insulin resistance, hypertension, and hypertriglyceridemia. Genetic Heterogeneity of Susceptibility to Type 2 Diabetes Susceptibility to T2D1 (601283) is conferred by variation in the calpain-10 gene (CAPN10; 605286) on chromosome 2q37. The T2D2 locus (601407) on chromosome 12q was found in a Finnish population. The T2D3 locus (603694) maps to chromosome 20. The T2D4 locus (608036) maps to chromosome 5q34-q35. Susceptibility to T2D5 (616087) is conferred by variation in the TBC1D4 gene (612465) on chromosome 13q22. A mutation has been observed in hepatocyte nuclear factor-4-alpha (HNF4A; 600281.0004) in a French family with NIDDM of late onset. Mutations in the NEUROD1 gene (601724) on chromosome 2q32 were found to cause type 2 diabetes mellitus in 2 families. Mutation in the GLUT2 glucose transporter was associated with NIDDM in 1 patient (138160.0001). Mutation in the MAPK8IP1 gene, which encodes the islet-brain-1 protein, was found in a family with type 2 diabetes in individuals in 4 successive generations (604641.0001). Polymorphism in the KCNJ11 gene (600937.0014) confers susceptibility. In French white families, Vionnet et al. (2000) found evidence for a susceptibility locus for type 2 diabetes on 3q27-qter. They confirmed the diabetes susceptibility locus on 1q21-q24 reported by Elbein et al. (1999) in whites and by Hanson et al. (1998) in Pima Indians. A mutation in the GPD2 gene (138430.0001) on chromosome 2q24.1, encoding mitochondrial glycerophosphate dehydrogenase, was found in a patient with type 2 diabetes mellitus and in his glucose-intolerant half sister. Mutations in the PAX4 gene (167413) have been identified in patients with type 2 diabetes. Triggs-Raine et al. (2002) stated that in the Oji-Cree, a gly319-to-ser change in HNF1-alpha (142410.0008) behaves as a susceptibility allele for type 2 diabetes. Mutation in the HNF1B gene (189907.0007) was found in 2 Japanese patients with typical late-onset type 2 diabetes. Mutations in the IRS1 gene (147545) have been found in patients with type 2 diabetes. A missense mutation in the AKT2 gene (164731.0001) caused autosomal dominant type 2 diabetes in 1 family. A (single-nucleotide polymorphism) SNP in the 3-prime untranslated region of the resistin gene (605565.0001) was associated with susceptibility to diabetes and to insulin resistance-related hypertension in Chinese subjects. Susceptibility to insulin resistance has been associated with polymorphism in the TCF1 (142410.0011), PPP1R3A (600917.0001), PTPN1 (176885.0001), ENPP1 (173335.0006), IRS1 (147545.0002), and EPHX2 (132811.0001) genes. The K121Q polymorphism of ENPP1 (173335.0006) is associated with susceptibility to type 2 diabetes; a haplotype defined by 3 SNPs of this gene, including K121Q, is associated with obesity, glucose intolerance, and type 2 diabetes. A SNP in the promoter region of the hepatic lipase gene (151670.0004) predicts conversion from impaired glucose tolerance to type 2 diabetes. Variants of transcription factor 7-like-2 (TCF7L2; 602228.0001), located on 10q, have also been found to confer risk of type 2 diabetes. A common sequence variant, rs10811661, on chromosome 9p21 near the CDKN2A (600160) and CDKN2B (600431) genes has been associated with risk of type 2 diabetes. Variation in the PPARG gene (601487) has been associated with risk of type 2 diabetes. A promoter polymorphism in the IL6 gene (147620) is associated with susceptibility to NIDDM. Variation in the KCNJ15 gene (602106) has been associated with T2DM in lean Asians. Variation in the SLC30A8 gene (611145) has been associated with susceptibility to T2D. Variation in the HMGA1 gene (600701.0001) is associated with an increased risk of type 2 diabetes. Mutation in the MTNR1B gene (600804) is associated with susceptibility to type 2 diabetes. Protection Against Type 2 Diabetes Mellitus Protein-truncating variants in the SLC30A8 (611145) have been associated with a reduced risk for T2D.
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

Ugovšek S, Šebeštjen M
Biomolecules 2021 Dec 24;12(1) doi: 10.3390/biom12010026. PMID: 35053174Free PMC Article
Alnouri F, Athar M, Al-Allaf FA, Abduljaleel Z, Taher MM, Bouazzaoui A, Al Ammari D, Karrar H, Albabtain M
Atherosclerosis 2018 Oct;277:425-433. doi: 10.1016/j.atherosclerosis.2018.06.878. PMID: 30270081
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
Cumurciuc R, Henry P, Gobron C, Vicaut E, Bousser MG, Chabriat H, Vahedi K
Stroke 2006 Apr;37(4):1100-2. Epub 2006 Mar 2 doi: 10.1161/01.STR.0000209242.68844.20. PMID: 16514092
Kajimoto K, Shioji K, Tago N, Tomoike H, Nonogi H, Goto Y, Iwai N
Circ J 2005 Oct;69(10):1192-5. doi: 10.1253/circj.69.1192. PMID: 16195615

Diagnosis

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
Alnouri F, Athar M, Al-Allaf FA, Abduljaleel Z, Taher MM, Bouazzaoui A, Al Ammari D, Karrar H, Albabtain M
Atherosclerosis 2018 Oct;277:425-433. doi: 10.1016/j.atherosclerosis.2018.06.878. PMID: 30270081
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
Cumurciuc R, Henry P, Gobron C, Vicaut E, Bousser MG, Chabriat H, Vahedi K
Stroke 2006 Apr;37(4):1100-2. Epub 2006 Mar 2 doi: 10.1161/01.STR.0000209242.68844.20. PMID: 16514092

Therapy

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
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
Dangas GD, Claessen BE, Mehran R, Xu K, Stone GW
EuroIntervention 2013 Jan 22;8(9):1033-9. doi: 10.4244/EIJV8I9A159. PMID: 23339809
Mayne J, Dewpura T, Raymond A, Cousins M, Chaplin A, Lahey KA, Lahaye SA, Mbikay M, Ooi TC, Chrétien M
Lipids Health Dis 2008 Jun 11;7:22. doi: 10.1186/1476-511X-7-22. PMID: 18547436Free PMC Article

Prognosis

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
Alnouri F, Athar M, Al-Allaf FA, Abduljaleel Z, Taher MM, Bouazzaoui A, Al Ammari D, Karrar H, Albabtain M
Atherosclerosis 2018 Oct;277:425-433. doi: 10.1016/j.atherosclerosis.2018.06.878. PMID: 30270081
Dangas GD, Claessen BE, Mehran R, Xu K, Stone GW
EuroIntervention 2013 Jan 22;8(9):1033-9. doi: 10.4244/EIJV8I9A159. PMID: 23339809

Clinical prediction guides

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
Alnouri F, Athar M, Al-Allaf FA, Abduljaleel Z, Taher MM, Bouazzaoui A, Al Ammari D, Karrar H, Albabtain M
Atherosclerosis 2018 Oct;277:425-433. doi: 10.1016/j.atherosclerosis.2018.06.878. PMID: 30270081
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

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