Familial apolipoprotein C-II deficiency

MedGen UID:: 328375
•Concept ID:: C1720779
•: Disease or Syndrome

Synonyms:	APOC2 DEFICIENCY; Apolipoprotein C-II Deficiency; Apolipoprotein C2 deficiency; C-II ANAPOLIPOPROTEINEMIA; HYPERLIPOPROTEINEMIA, TYPE IB
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	APOC2 (19q13.32)

Monarch Initiative:	MONDO:0008810
OMIM®:	207750
Orphanet:	ORPHA309020

Definition

Clinically and biochemically, apoC-II deficiency closely simulates lipoprotein lipase deficiency, or hyperlipoproteinemia type I (238600), and is therefore referred to as hyperlipoproteinemia type IB. [from OMIM]

Clinical features

From HPO

Hepatomegaly

MedGen UID:: 42428
•Concept ID:: C0019209
•: Finding

Abnormally increased size of the liver.

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Pancreatitis

MedGen UID:: 14586
•Concept ID:: C0030305
•: Disease or Syndrome

The presence of inflammation in the pancreas.

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Splenomegaly

MedGen UID:: 52469
•Concept ID:: C0038002
•: Finding

Abnormal increased size of the spleen.

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Hypercholesterolemia

MedGen UID:: 5687
•Concept ID:: C0020443
•: Disease or Syndrome

An increased concentration of cholesterol in the blood.

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Hypertriglyceridemia

MedGen UID:: 167238
•Concept ID:: C0813230
•: Finding

An abnormal increase in the level of triglycerides in the blood.

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Increased circulating chylomicron concentration

MedGen UID:: 853340
•Concept ID:: C1535978
•: Finding

Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.

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Decreased circulating apolipoprotein C-II concentration

MedGen UID:: 395336
•Concept ID:: C1859747
•: Finding

Reduced concentration of apolipoprotein C-II in the blood circulation.

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Eruptive xanthomas

MedGen UID:: 66366
•Concept ID:: C0221252
•: Disease or Syndrome

Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.

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Lipemia retinalis

MedGen UID:: 137918
•Concept ID:: C0339477
•: Disease or Syndrome

A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.

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