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Disease Abetalipoproteinemia

Name Abetalipoproteinemia
Synonyms ABL | Acanthocytoses | Acanthocytosis | Bassen Kornzweig Disease | Bassen-Kornzweig Disease | Bassen Kornzweig Syndrome | Bassen-Kornzweig Syndrome | Betalipoprotein Deficiency Disease | Betalipoprotein Deficiency Diseases | Deficiency Disease, Betalipoprotein | Deficiency Diseases, Betalipoprotein | Disease, Betalipoprotein Deficiency | Diseases, Betalipoprotein Deficiency | Microsomal Triglyceride Transfer Protein Deficiency | Microsomal Triglyceride Transfer Protein Deficiency Disease | MTP DEFICIENCY
Definition An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D000012
OMIM® ID 200100
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Hypolipoproteinemias Has associated chemicals Has associated genes Hypobetalipoproteinemias Has associated chemicals Has associated genes Abetalipoproteinemia Has associated chemicals Has associated genes
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism Disorders Has associated chemicals Has associated genes Has associated exposure references Dyslipidemias Has associated chemicals Has associated genes Has associated exposure references Hypolipoproteinemias Has associated chemicals Has associated genes Hypobetalipoproteinemias Has associated chemicals Has associated genes Abetalipoproteinemia Has associated chemicals Has associated genes
3. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Hypolipoproteinemias Has associated chemicals Has associated genes Hypobetalipoproteinemias Has associated chemicals Has associated genes Abetalipoproteinemia Has associated chemicals Has associated genes

Top ↑ Descendants

Abetalipoproteinemia Has associated chemicals Has associated genes
  Abetalipoproteinemia neuropathy
  Wolman Disease with Hypolipoproteinemia and Acanthocytosis