Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis

General Information (adopted from Orphanet):

Synonyms, Signs: ADCAD2
Coronary artery disease, autosomal dominant 2
Number of Symptoms 19
OrphanetNr: 94062
OMIM Id: 610947
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 families - PMID: 23703864 [IBIS]
Inheritance: Autosomal dominant
- PMID: 17332414 [IBIS]
Age of onset: Adult
- PMID: 17332414 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare cardiac disease
 -Rare cardiac disease
Rare genetic cardiac disease
 -Rare genetic disease

Comment:

In a family with autosomal dominant early coronary artery disease features of the metabolic syndrome (hyperlipidemia, hypertension, and diabetes), and osteoporosis, a missense mutation in LRP6, which encodes a co-receptor in the Wnt signaling pathway, was identified (PMID:17332414).

Symptom Information: Sort by abundance 

1
(HPO:0000833) Glucose intolerance 23703864 IBIS 20 / 7739
2
(HPO:0001681) Angina pectoris 17332414 IBIS 22 / 7739
3
(HPO:0001677) Coronary artery disease 17332414; 23703864 IBIS 58 / 7739
4
(HPO:0005145) Coronary artery stenosis 17332414 IBIS 5 / 7739
5
(HPO:0002621) Atherosclerosis 17332414 IBIS 33 / 7739
6
(HPO:0000822) Hypertension 17332414; 23703864 IBIS 224 / 7739
7
(HPO:0001658) Myocardial infarction 17332414; 23703864 IBIS 30 / 7739
8
(HPO:0001645) Sudden cardiac death 17332414 IBIS 84 / 7739
9
(HPO:0003141) Hyperbetalipoproteinemia 17332414; 23703864 IBIS 10 / 7739
10
(HPO:0003233) Hypoalphalipoproteinemia 23703864 IBIS 18 / 7739
11
(HPO:0003077) Hyperlipidemia 17332414; 23703864 IBIS 37 / 7739
12
(HPO:0002155) Hypertriglyceridemia 17332414; 23703864 IBIS 67 / 7739
13
(HPO:0001997) Gout 23703864 IBIS 18 / 7739
14
(HPO:0002149) Hyperuricemia 23703864 IBIS 37 / 7739
15
(HPO:0004349) Reduced bone mineral density 17332414 IBIS 165 / 7739
16
(HPO:0000939) Osteoporosis 17332414; 23703864 IBIS 129 / 7739
17
(HPO:0005978) Type II diabetes mellitus 17332414; 23703864 IBIS 68 / 7739
18
(MedDRA:10052066) Metabolic syndrome 17332414; 23703864 IBIS 2 / 7739
19
(OMIM) Coronary artery disease, early-onset 17332414; 23703864 IBIS 1 / 7739

Associated genes:

LRP6;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
LRP6 rs121918313 pathogenic RCV000006645.3
LRP6 rs141212743 pathogenic RCV000056294.2
LRP6 rs397515473 pathogenic RCV000056292.2
LRP6 rs397515474 pathogenic RCV000056293.2

Additional Information:

Clinical Description OMIM From a screen of patients and families with coronary artery disease (CAD), Mani et al. (2007) identified an extreme outlier kindred with extraordinary prevalence of early CAD. The kindred, of Iranian ancestry, was ascertained by the proband who ...
Molecular genetics OMIM Mani et al. (2007) found that the index case in the large Iranian family with autosomal dominant CAD studied by them carried an arginine-to-cysteine substitution at codon 611 of the LRP6 gene (R611C; 603507.0001), which lies in the ...