Details of Disease | DrugMAP

General Information of Disease (ID: DISMX85I)

Disease Name	Cholesteryl ester storage disease
Synonyms	CESD; lysosomal and lipase deficiency; cholesterol ester hydrolase deficiency, partial; cholesterol ester storage disease; LIPA deficiency, partial; lysosomal acid lipase deficiency, partial; LAL deficiency, partial
Definition	A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.
Disease Hierarchy	DISO6W4Z: Lysosomal acid lipase deficiency DISMX85I: Cholesteryl ester storage disease
Disease Identifiers	MONDO ID MONDO_0019149 MESH ID D015217 UMLS CUI C0008384 OMIM ID 278000 MedGen ID 40266 Orphanet ID 75234 SNOMED CT ID 57218003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CES1	TTMF541	moderate	Altered Expression	[1]
LIPA	TTS8T1M	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
LIPA	DE2PJF5	Supportive	Autosomal recessive	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LIPA	OTIOLNHE	Supportive	Autosomal recessive	[3]
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References

1	Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency.Am J Hum Genet. 1984 Nov;36(6):1190-203.
2	Lysosomal Acid Lipase in Lipid Metabolism and Beyond.Arterioscler Thromb Vasc Biol. 2019 May;39(5):850-856. doi: 10.1161/ATVBAHA.119.312136.
3	Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. Mol Genet Metab. 2012 Mar;105(3):450-6. doi: 10.1016/j.ymgme.2011.12.008. Epub 2011 Dec 17.