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GENATLAS PHENOTYPE
last update : 26-09-2012
Symbol LIPAD
Location 10q23.31
Name lysosomal acid, lipase deficiency
Other name(s)
  • cholesteryl ester storage disease, (allelic mutations of LIPA)
  • cholesterol esterase deficiency
  • Wolman disease
  • Corresponding gene LIPA
    Other symbol(s) CESD
    Main clinical features
  • xanthomatous changes in the liver, adrenal, spleen, lymph nodes, bone marrow, small intestine, lungs and thymus, and slight changes in the skin, retina, and central nervous system
  • the adrenals were calcified, death due to intestinal malabsorption resulting from involvement of the gut
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/lipoprotein-lipid
    metabolism/lysosomal
    Type disease
    Gene product
    Name lipase A, lysosomal, acid (LIPA)
    Remark(s) LIPA deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease (PMID: 21757691))