Cholesteryl ester storage disease

Preferred Label : Cholesteryl ester storage disease;

Symbol : CESD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cholesterol ester hydrolase deficiency, partial; Lipa deficiency, partial; Lal deficiency, partial; Lysosomal acid lipase deficiency, partial;

Description : Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lysosomal acid lipase gene (LIPA, 613497.0001);

Laboratory abnormalities : Elevated alanine aminotransferase (ALT); Hypercholesterolemia; Hypertriglyceridemia; Low lysosomal acid lipase activity;

Prefixed ID : #278000;

Details

Origin ID

278000;

UMLS CUI

C0008384;

Automatic exact mappings (from CISMeF team)
- Cholesteryl ester storage disease [MedDRA LLT]
- Lysosomal acid lipase deficiency [MedDRA Preferred Term]
- Other lipid storage disorders [ICD-10 Sub-category]
- Wolman disease [DO Concept]
- Wolman disease [PASCAL descriptor]
- Wolman's disease [MedDRA LLT]
- lipase A, lysosomal acid type [ORDO Gene]
- lipase A, lysosomal acid type [HGNC gene]
- wolman disease [MeSH concept]
Currated CISMeF NLP mapping
- Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 [MeSH concept]
- Lysosomal acid lipase deficiency [ICD-11 More detail]
- Lysosomal acid lipase deficiency [ORDO Disease]
- Lysosomal acid lipase deficiency (disorder) [SNOMED CT concept]
- cholesterol ester storage disease [MeSH Descriptor]
- lysosomal acid lipase deficiency [MeSH Supplementary Concept]
DO Cross reference
- lysosomal and lipase deficiency [DO Concept]
False automatic mappings
- Center for Epidemiologic Studies Depression Scale [NCIt concept]
- Cholesterol ester storage disease (disorder) [SNOMED CT concept]
Genes related to phenotype
- Lipase a, lysosomal acid [OMIM gene]
HPO term(s)
- Acute hepatic failure [HPO term]
- Adrenal calcification [HPO term]
- Adrenal insufficiency [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone-marrow foam cells [HPO term]
- Cirrhosis [HPO term]
- Death in infancy [HPO term]
- Decreased HDL cholesterol concentration [HPO term]
- Diarrhea [HPO term]
- Disseminated intravascular coagulation [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Elevated gamma-glutamyltransferase level [HPO term]
- Esophageal varix [HPO term]
- Failure to thrive [HPO term]
- Hepatic bridging fibrosis [HPO term]
- Hepatic failure [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatic foam cells [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Hypercholesterolemia [HPO term]
- Hypersplenism [HPO term]
- Hypertriglyceridemia [HPO term]
- Increased LDL cholesterol concentration [HPO term]
- Increased circulating lactate dehydrogenase concentration [HPO term]
- Increased hepatic echogenicity [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Large vacuolated foam cells ('NP cells') on bone marrow biopsy [HPO term]
- Leukopenia [HPO term]
- Low alkaline phosphatase [HPO term]
- Periportal fibrosis [HPO term]
- Poor weight gain [HPO term]
- Portal hypertension [HPO term]
- Protuberant abdomen [HPO term]
- Reduced lysosomal acid lipase activity [HPO term]
- Splenomegaly [HPO term]
- Steatorrhea [HPO term]
- Thrombocytopenia [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Cholesteryl ester storage disease [ORDO Disease]
- Lysosomal acid lipase deficiency [ORDO Disease]
- Wolman disease [ORDO Disease]
See also inter- (CISMeF)
- Cholesteryl ester storage disease [ICD-11 More detail]
- LIPA wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cholesterol ester storage disease (disorder) [SNOMED CT concept]
- Cholesteryl ester storage disease [MedDRA LLT]
- Cholesteryl ester storage disease [ICD-11 More detail]
- Cholesteryl ester storage disease [ORDO Disease]
- Lysosomal acid lipase deficiency [MedDRA Preferred Term]
- Lysosomal acid lipase deficiency (disorder) [SNOMED CT concept]
- Wolman Disease [NCIt concept]
- Wolman disease [ORDO Disease]
- Wolman disease [DO Concept]
- Wolman disease [PASCAL descriptor]
- Wolman disease [Disease (Nov.)]
- Wolman disease [ICD-11 More detail]
- Wolman's disease [MedDRA LLT]
- Wolman's disease (disorder) [SNOMED CT concept]
- Xanthomatosis, familial (disorder) [SNOMED CT concept]
- acid lipase deficiency, nos [SNOMED Notion]
- cholesterol ester storage disease [MeSH concept]
- cholesterol ester storage disease [MeSH Descriptor]
- cholesterol ester storage disease [DO Concept]
- cholesterol ester storage disease [SNOMED Notion]
- cholesteryl ester storage disorder [Disease (Nov.)]
- wolman disease [MeSH Descriptor]
- wolman disease [MeSH concept]
- wolman disease with hypolipoproteinemia and acanthocytosis [MeSH Supplementary Concept]
- wolman's disease [MedDRA Preferred Term]
- wolman's disease [SNOMED Notion]
Validated automatic mappings to BTNT
- Wolman disease [ICD-11 More detail]
Validated automatic mappings to NTBT
- Cholesteryl ester storage disease [ORDO Disease]
- acid lipase deficiency, nos [SNOMED Notion]
- cholesterol ester storage disease [MeSH concept]
- cholesteryl ester storage disorder [Disease (Nov.)]

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