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Abetalipoproteinemia

Disease definition

Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) 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.

ORPHA:14

  • Synonym(s):
    • Bassen-Kornzweig disease
    • Homozygous familial hypobetalipoproteinemia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E78.6
  • OMIM: 200100
  • UMLS: C0000744
  • MeSH: D000012
  • GARD: 5
  • MedDRA: -

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