Abetalipoproteinemia

Orpha code: 14OMIM code: 605019

Definition

A severe, 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.

Disease data
Classification

Disease

Synonyms
Bassen-Kornzweig disease
Choroba Bassena i Kornzweiga
Homozygotyczna rodzinna hipobetalipoproteinemia
Homozygous familial hypobetalipoproteinemia
ORPHA code
14
OMIM code
605019
ICD10 code
E78.6
ICD11 code
5C81.1

No additional description.

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