Butyrylcholinesterase Deficiency (BCHED)

Alias:
Pseudocholinesterase Deficiency
Suxamethonium Sensitivity
Postanesthetic Apnea
Acholinesterasemia
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
Deficiency of Butyrylcholinesterase
Bched
Fluoride-Resistant Butyrylcholinesterase Deficiency Japanese Type
Apnea, Postanesthetic, Susceptibility to, Due to Bche Deficiency
Fluoride-Resistant Hypocholinesterasemia Japanese Type
Apnea, Postanesthetic Due to Bche Deficiency
Deficiency of Butyrylcholine Esterase
Pseudocholinesterase E1 Deficiency
Cholinesterase Ii Deficiency
Succinylcholine Sensitivity
Apnea, Postanesthetic
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Butyrylcholinesterase Deficiency, also known as pseudocholinesterase deficiency, is related to chorea, benign hereditary and infantile apnea, and has symptoms including apnea An important gene associated with Butyrylcholinesterase Deficiency is BCHE (Butyrylcholinesterase). The drugs Pharmaceutical Solutions and Succinylcholine have been mentioned in the context of this disorder. Affiliated tissues include liver and kidney, and related phenotypes are abnormal circulating enzyme concentration or activity and respiratory failure
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/100000
1
3
71

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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