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Apolipoprotein A-I deficiency

Disease Export to PDF
Name:
Apolipoprotein A-I deficiency
Description:
A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).
ORPHAcode:
425
Synonyms:
ApoA-I deficiency
Familial apoA-I deficiency
Familial hypoalphalipoproteinemia
XREF(s):
Orphanet
OMIM
ICD-10
MeSH
OMIM
MedDRA
Analyte(s):
APOA1
ABCA1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14