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Results 1 - 10 of 13 for xanthoma
  1. Cerebrotendinous xanthomatosis 
    Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats (lipids) in many areas of the body. People with this disorder cannot break down ...
    https://medlineplus.gov/.../condition/cerebrotendinous-xanthomatosis - Genetics
  2. Lysosomal acid lipase deficiency 
    ... Acid esterase deficiency Acid lipase deficiency Familial visceral xanthomatosis Familial xanthomatosis LAL deficiency LIPA deficiency Primary familial ...
    https://medlineplus.gov/.../lysosomal-acid-lipase-deficiency - Genetics
  3. CYP27A1 gene 
    ... body. At least 90 mutations that cause cerebrotendinous xanthomatosis have been identified in the CYP27A1 gene. Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of ...
    https://medlineplus.gov/genetics/gene/cyp27a1 - Genetics
  4. Sitosterolemia 
    ... people with sitosterolemia develop small yellowish growths called xanthomas beginning in childhood. Xanthomas consist of accumulated lipids and may be located ...
    https://medlineplus.gov/genetics/condition/sitosterolemia - Genetics
  5. Familial lipoprotein lipase deficiency 
    ... deposits of fat under the skin called eruptive xanthomas. These fat deposits most commonly appear on the trunk, buttocks, knees, and arms. Eruptive xanthomas are small (about 1 millimeter in diameter), but ...
    https://medlineplus.gov/.../familial-lipoprotein-lipase-deficiency - Genetics
  6. Familial hypercholesterolemia 
    ... bones (tendons), it causes characteristic growths called tendon xanthomas. These growths most often affect the Achilles tendons, ...
    https://medlineplus.gov/.../condition/familial-hypercholesterolemia - Genetics
  7. LPL gene 
    ... spleen (hepatosplenomegaly), fatty deposits in the skin (eruptive xanthomas), and the other signs and symptoms of familial ...
    https://medlineplus.gov/genetics/gene/lpl - Genetics
  8. Glycogen storage disease type I 
    ... diarrhea and deposits of cholesterol in the skin (xanthomas).People with GSDI may experience delayed puberty. Beginning ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-i - Genetics
  9. Alagille syndrome 
    ... skin, and deposits of cholesterol in the skin (xanthomas).Alagille syndrome is also associated with several heart ...
    https://medlineplus.gov/genetics/condition/alagille-syndrome - Genetics
  10. ABCG8 gene 
    ... can impair blood flow (atherosclerosis), fatty skin growths (xanthomas), and the additional signs and symptoms of sitosterolemia. ...
    https://medlineplus.gov/genetics/gene/abcg8 - Genetics
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