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DeCS
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Descriptor English:
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Hypobetalipoproteinemia, Familial, Apolipoprotein B
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Descriptor Spanish:
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Hipobetalipoproteinemia Familiar por Apolipoproteína B
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Descriptor Portuguese:
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Hipobetalipoproteinemia Familiar por Apolipoproteína B
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Synonyms English:
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Abetalipoproteinemia, Normotriglyceridemic, Steinbert Type
Apolipoprotein B Deficiencies
Apolipoprotein B Deficiency
Apolipoprotein B Deficiency Disease
Hypobetalipoproteinemia, Familial, Apo B
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Tree Number:
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C18.452.584.500.875.440.750
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Definition English:
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An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption. |
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History Note English:
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2007; for APOLIPOPROTEIN B DEFICIENCY DISEASE use ABETALIPOPROTEINEMIA 2000-2006
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Allowable Qualifiers English:
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Record Number:
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52152
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Unique Identifier:
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D052476
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Occurrence in VHL:
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Similar:
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DeCS
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