Abetalipoproteinemia

Definition

Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

Also known as abetalipoproteinemia, Bassen-Kornzweig disease, homozygous familial hypobetalipoproteinemia — per MONDO

Also identified as

• DOID 1386 per MONDO
• MESH D000012 per MONDO
• NCIT C84525 per MONDO
• OMIM 200100 per MONDO
• Orphanet 14 per MONDO
• SCTID 190787008 per MONDO
• UMLS C0000744 per MONDO