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Hypercholesterolemia, autosomal dominant, 3(HCHOLA3)

MedGen UID:
355007
Concept ID:
C1863551
Disease or Syndrome
Synonyms: Familial Hypercholesterolemia, Autosomal Dominant, 3; HCHOLA3; HYPERCHOLESTEROLEMIA, FAMILIAL, 3; PCSK9-Related Familial Hypercholesterolemia, Autosomal Dominant
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene (location): PCSK9 (1p32.3)
OMIM®: 603776

Definition

Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. Too much cholesterol, however, increases a person's risk of developing heart disease.People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease. This condition occurs when excess cholesterol in the bloodstream is deposited in the walls of blood vessels, particularly in the arteries that supply blood to the heart (coronary arteries). The abnormal buildup of cholesterol forms clumps (plaque) that narrow and harden artery walls. As the clumps get bigger, they can clog the arteries and restrict the flow of blood to the heart. The buildup of plaque in coronary arteries causes a form of chest pain called angina and greatly increases a person's risk of having a heart attack.Inherited forms of hypercholesterolemia can also cause health problems related to the buildup of excess cholesterol in other tissues. If cholesterol accumulates in tendons, it causes characteristic growths called tendon xanthomas. These growths most often affect the Achilles tendons and tendons in the hands and fingers. Yellowish cholesterol deposits under the skin of the eyelids are known as xanthelasmata. Cholesterol can also accumulate at the edges of the clear, front surface of the eye (the cornea), leading to a gray-colored ring called an arcus cornealis.
[from GHR]

Clinical features

Hypercholesterolaemia
MedGen UID:
5687
Concept ID:
C0020443
Disease or Syndrome
An increased concentration of cholesterol in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

ACMG Board of Directors
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. [Epub ahead of print] PMID: 25356965
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. [Epub ahead of print] PMID: 23788249Free PMC Article

Recent clinical studies

Etiology

Bergeron N, Phan BA, Ding Y, Fong A, Krauss RM
Circulation 2015 Oct 27;132(17):1648-66. doi: 10.1161/CIRCULATIONAHA.115.016080. PMID: 26503748

Therapy

Bergeron N, Phan BA, Ding Y, Fong A, Krauss RM
Circulation 2015 Oct 27;132(17):1648-66. doi: 10.1161/CIRCULATIONAHA.115.016080. PMID: 26503748

Prognosis

Bergeron N, Phan BA, Ding Y, Fong A, Krauss RM
Circulation 2015 Oct 27;132(17):1648-66. doi: 10.1161/CIRCULATIONAHA.115.016080. PMID: 26503748

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