Chylomicron retention disease

MONDO:0009528

Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.

Also known as: Anderson disease, CMRD, CRD, chylomicron retention disease, hypobetalipoproteinemia with accumulation of apolipoprotein B-like Protein in intestinal cells, hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells, lipid Transport defect of intestine

1 clinical trial for this condition and its sub-types, 1 tagged with Chylomicron retention disease itself.

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Where it sits in the disease tree

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Part of

↑ Hypobetalipoproteinemia (3)

Including sub-types (1) Tagged with Chylomicron retention disease (1)

Completed 1

Rare cholesterol disorder linked to hidden eye risk

Knowledge-focused Completed

This study looked at 10 people with rare genetic conditions that cause very low cholesterol and trouble absorbing vitamins. Researchers measured a protective pigment in the eye called macular pigment, which may be low in these patients and could explain why some still develop vis…

Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused

Last updated Jun 27, 2026 08:01 UTC

Chylomicron retention disease

Where it sits in the disease tree

Rare cholesterol disorder linked to hidden eye risk