Familial Hypobetalipoproteinemia
Familial Hypobetalipoproteinemia
About the Disease
Hypobetalipoproteinemia, Familial, 1, also known as hypobetalipoproteinemia, is related to chylomicron retention disease and abetalipoproteinemia, and has symptoms including ataxia An important gene associated with Hypobetalipoproteinemia, Familial, 1 is APOB (Apolipoprotein B), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Tocopherol and DL-alpha-Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include liver, breast and heart, and related phenotypes are acanthocytosis and steatorrhea
Common Targets
ANGPTL4 | MTTP | APOB

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