disease: Lysosomal acid lipase deficiency

nameLysosomal acid lipase deficiency
descriptionThe phenotypic spectrum of lysosomal acid lipase (LAL) deficiency ranges from the infantile-onset form (Wolman disease) to later-onset forms collectively known as cholesterol ester storage disease (CESD). Wolman disease is characterized by infantile-onset malabsorption that results in malnutrition, storage of cholesterol esters and triglycerides in hepatic macrophages that results in hepatomegaly and liver disease, and adrenal gland calcification that results in adrenal cortical insufficiency. Unless successfully treated with hematopoietic stem cell transplantation (HSCT), infants with classic Wolman disease do not survive beyond age one year. CESD may present in childhood in a manner similar to Wolman disease or later in life with such findings as serum lipid abnormalities, hepatosplenomegaly, and/or elevated liver enzymes long before a diagnosis is made. The morbidity of late-onset CESD results from atherosclerosis (coronary artery disease, stroke), liver disease (e.g., altered liver function ± jaundice, steatosis, fibrosis, cirrhosis and related complications of esophageal varices, and/or liver failure), complications of secondary hypersplenism (i.e., anemia and/or thrombocytopenia), and/or malabsorption. Individuals with CESD may have a normal life span depending on the severity of disease manifestations.
variant-disease NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) AND Lysosomal acid lipase deficiency
NM_000235.4(LIPA):c.256C>T (p.His86Tyr) AND Lysosomal acid lipase deficiency
NM_000235.4(LIPA):c.8T>G (p.Met3Arg) AND Lysosomal acid lipase deficiency
NM_000235.4(LIPA):c.796G>T (p.Gly266Ter) AND Lysosomal acid lipase deficiency
NM_000235.4(LIPA):c.253C>T (p.Gln85Ter) AND Lysosomal acid lipase deficiency
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