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Abetalipoproteinemia

Disease Export to PDF
Name:
Abetalipoproteinemia
Description:
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.
ORPHAcode:
14
Synonyms:
Bassen-Kornzweig disease
Homozygous familial hypobetalipoproteinemia
XREF(s):
Orphanet
MeSH
OMIM
ICD-10
OMIM
OMIM
Analyte(s):
MTTP
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14