MCID: PSD029
MIFTS: 22

Pseudocholinesterase Deficiency malady

Metabolic diseases category

Summaries for Pseudocholinesterase Deficiency

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Pseudocholinesterase deficiency is a condition that causes increased sensitivity to certain muscle relaxant drugs used during general anesthesia, called choline esters. these drugs relax the muscles used for movement, including the muscles needed for breathing. they are normally broken down by the body within a few minutes of being given, at which time the muscles can move again. however, people with pseudocholinesterase deficiency may not be able to move or breathe on their own for a few hours after, therefore needing mechanical ventilation until the drugs are cleared from the body. affected individuals may also have increased sensitivity to certain other drugs and to specific agricultural pesticides. pseudocholinesterase deficiency can be inherited in an autosomal recessive manner and caused by mutations in the bche gene, or it can have non-genetic causes in which case it is called acquired pseudocholinesterase deficiency. last updated: 10/16/2013

MalaCards: Pseudocholinesterase Deficiency, also known as butyrylcholinesterase deficiency, is related to hellp syndrome and ovarian hyperstimulation syndrome. An important gene associated with Pseudocholinesterase Deficiency is BCHE (butyrylcholinesterase). Affiliated tissues include skeletal muscle.

Genetics Home Reference:21 Pseudocholinesterase deficiency is a condition that results in increased sensitivity to certain muscle relaxant drugs used during general anesthesia, called choline esters. These fast-acting drugs, such as succinylcholine and mivacurium, are given to relax the muscles used for movement (skeletal muscles), including the muscles involved in breathing. The drugs are often employed for brief surgical procedures or in emergencies when a breathing tube must be inserted quickly. Normally, these drugs are broken down (metabolized) by the body within a few minutes of being administered, at which time the muscles can move again. However, people with pseudocholinesterase deficiency may not be able to move or breathe on their own for a few hours after the drugs are administered. Affected individuals must be supported with a machine to help them breathe (mechanical ventilation) until the drugs are cleared from the body.

Wikipedia:63 Pseudocholinesterase deficiency is an inherited blood plasma enzyme abnormality. People who have this... more...

Description from OMIM:46 177400

Aliases & Classifications for Pseudocholinesterase Deficiency

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42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Characteristics (Orphanet epidemiological data):

48
butyrylcholinesterase deficiency:
Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

pseudocholinesterase deficiency 42 21 44 60
butyrylcholinesterase deficiency 42 20 21 48 46 60
succinylcholine sensitivity 42 21
suxamethonium sensitivity 21 60
apnea, postanesthetic 42 46
deficiency of butyrylcholine esterase 21
pseudocholinesterase e1 deficiency 21
cholinesterase ii deficiency 21
cholinesterase 2 deficiency 42
pseudocholinesterase e1 42


External Ids:

MESH via Orphanet35 C537417
SNOMED-CT via Orphanet57 360589003
UMLS via Orphanet61 C1283400

Related Diseases for Pseudocholinesterase Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Pseudocholinesterase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hellp syndrome10.1
2ovarian hyperstimulation syndrome10.1
3laryngitis10.1
4pericarditis10.1
5alzheimer's disease10.0

Graphical network of diseases related to Pseudocholinesterase Deficiency:



Diseases related to pseudocholinesterase deficiency

Clinical Features for Pseudocholinesterase Deficiency

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46OMIM
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Clinical features from OMIM:

177400

Clinical synopsis from OMIM:

177400

Drugs & Therapeutics for Pseudocholinesterase Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Pseudocholinesterase Deficiency

Drug clinical trials:

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Search NIH Clinical Center for Pseudocholinesterase Deficiency

Search CenterWatch for Pseudocholinesterase Deficiency

Genetic Tests for Pseudocholinesterase Deficiency

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20GeneTests
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Genetic tests related to Pseudocholinesterase Deficiency:

id Genetic test Affiliating Genes
1 Butyrylcholinesterase Deficiency20 BCHE

Anatomical Context for Pseudocholinesterase Deficiency

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32MalaCards
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MalaCards organs/tissues related to Pseudocholinesterase Deficiency:

32
Skeletal muscle

Animal Models for Pseudocholinesterase Deficiency or affiliated genes

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Publications for Pseudocholinesterase Deficiency

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Genetic Variations for Pseudocholinesterase Deficiency

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Expression for genes affiliated with Pseudocholinesterase Deficiency

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pseudocholinesterase Deficiency

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Pathways for genes affiliated with Pseudocholinesterase Deficiency

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Compounds for genes affiliated with Pseudocholinesterase Deficiency

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GO Terms for genes affiliated with Pseudocholinesterase Deficiency

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Products for genes affiliated with Pseudocholinesterase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pseudocholinesterase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet