Details of Disease | DrugMAP

General Information of Disease (ID: DISMQ1JE)

Disease Name	Butyrylcholinesterase deficiency
Synonyms	pseudocholinesterase deficiency; pseudocholinesterase E1; cholinesterase 2 deficiency; Suxamethonium sensitivity; apnea, postanesthetic; butyrylcholinesterase deficiency, fluoride-resistant, Japanese type; succinylcholine sensitivity; hypocholinesterasemia, fluoride-resistant, Japanese type; Acholinesterasemia; BCHED; butyrylcholinesterase deficiency; apnea, postanesthetic, susceptibility to, due to BCHE deficiency
Definition	Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterized by prolonged apnoea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.
Disease Hierarchy	DISR7E1C: Metabolic disease involving other neurotransmitter deficiency DISMQ1JE: Butyrylcholinesterase deficiency
Disease Identifiers	MONDO ID MONDO_0015270 MESH ID C537417 UMLS CUI C1283400 OMIM ID 617936 MedGen ID 220923 Orphanet ID 132 SNOMED CT ID 360619001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BCHE	TT3MSAO	Limited	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
BCHE	DEIHSMD	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BCHE	OTOH3WQ9	Definitive	Autosomal recessive	[2]
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References

1	Naturally Occurring Genetic Variants of Human Acetylcholinesterase and Butyrylcholinesterase and Their Potential Impact on the Risk of Toxicity from Cholinesterase Inhibitors.Chem Res Toxicol. 2016 Sep 19;29(9):1381-92. doi: 10.1021/acs.chemrestox.6b00228. Epub 2016 Aug 31.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.