Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption.

Synonyms: Familial Hypobetalipoproteinemia, Hypo beta Lipoproteinemias, Hypobetalipoproteinemia, Hypo beta Lipoproteinemia, Hypobetalipoproteinemias

Instance information

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2007 (1978) ,2007; see HYPOBETALIPOPROTEINEMIA 1991-2006, see HYPOLIPOPROTEINEMIA 1980-1990, see HYPOLIPOPROTEINEMIAS 1978-1979

identifier

D006995