Abetalipoproteinemia
From BugSigDB
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.
- Aliases
- abetalipoproteinemia
- abetalipoproteinemia
- abetalipoproteinemia neuropathy
- ABL
- acanthocytosis
- apolipoprotein B deficiency
- Bassen Kornzweig syndrome
- Bassen-Kornzweig disease
- Bassen-Kornzweig syndrome
- Betalipoprotein deficiency disease
- congenital betalipoprotein deficiency syndrome
- familial hypobetalipoproteinemia
- Homozygous familial hypobetalipoproteinemia
- homozygous familial hypobetalipoproteinemia
- microsomal triglyceride transfer Protein deficiency
- microsomal triglyceride transfer protein deficiency disease
- MTP deficiency
