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Familial hypobetalipoproteinemia 1

MONDO:0014252

Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene.

Also known as: hypobetalipoproteinemia, APOB hypobetalipoproteinemia, FHBL1, familial hypobetalipoproteinemia 1, familial hypobetalipoproteinemia type 1, hypobetalipoproteinemia caused by mutation in APOB, hypobetalipoproteinemia, familial, type 1, FHBL

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (717) Metabolic disease (241) Inherited lipid metabolism disorder (199) Hereditary disease (188) Inborn errors of metabolism (47) Human disease (15) Disease of genetic or genomic mechanism (2) Hypobetalipoproteinemia (2) Hypolipoproteinemia (2) Disease by developmental or physiological process (0)
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  • Scientists hunt for hidden genes behind Ultra-Low cholesterol

    Knowledge-focused Ongoing

    This study aims to find new genes that cause very low cholesterol levels (a condition called FHBL). Researchers are recruiting 435 people with low cholesterol and their family members to analyze their DNA. The goal is to discover new targets for understanding and potentially mana…

    Sponsor: Nantes University Hospital • Aim: Knowledge-focused

    Last updated Jun 27, 2026 12:24 UTC

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