ATHEROSCLEROSIS SUSCEPTIBILITY

General Information (adopted from Orphanet):

Synonyms, Signs: ATHEROGENIC LIPOPROTEIN PHENOTYPE
ATHS
ALP
Number of Symptoms 8
OrphanetNr:
OMIM Id: 108725
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001658) Myocardial infarction 30 / 7739
2
(HPO:0002155) Hypertriglyceridemia 67 / 7739
3
(HPO:0003233) Hypoalphalipoproteinemia 18 / 7739
4
(OMIM) Increased triglyceride-rich lipoproteins 1 / 7739
5
(OMIM) Reduced high density lipoprotein 2 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Preponderance of small, dense low density lipoprotein (LDL) particles (subclass pattern B) 1 / 7739
8
(OMIM) Increased myocardial infarction risk 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The atherogenic lipoprotein phenotype (ALP) is a common heritable trait characterized by a preponderance of small, dense low density lipoprotein (LDL) particles (subclass pattern B), increased levels of triglyceride-rich lipoproteins, reduction in high density lipoprotein, and a 3-fold ...
Molecular genetics OMIM Naggert et al.(1997) followed up on the family study showing tight linkage of the atherogenic lipoprotein phenotype to the LDL receptor locus (LDLR; 606945) on 19p13.2. To test whether a mutation in the structural portion of the LDLR ...