MCID: PSD029
MIFTS: 25

Pseudocholinesterase Deficiency malady

Metabolic category

Summaries for Pseudocholinesterase Deficiency

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 liver and 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:64 Pseudocholinesterase deficiency is an inherited blood plasma enzyme abnormality. People who have this... more...

Description from OMIM:47 177400

Aliases & Classifications for Pseudocholinesterase Deficiency

Sources:
43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic


Characteristics (Orphanet epidemiological data):

49
butyrylcholinesterase deficiency:
Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

pseudocholinesterase deficiency 43 21 45 61
butyrylcholinesterase deficiency 43 20 21 49 47 61
succinylcholine sensitivity 43 21
suxamethonium sensitivity 21 61
apnea, postanesthetic 43 47
deficiency of butyrylcholine esterase 21
pseudocholinesterase e1 deficiency 21
cholinesterase ii deficiency 21
cholinesterase 2 deficiency 43
pseudocholinesterase e1 43


External Ids:

MESH via Orphanet36 C537417
SNOMED-CT via Orphanet58 360589003
UMLS via Orphanet62 C1283400

Related Diseases for Pseudocholinesterase Deficiency

Sources:
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
3alzheimer's disease10.1

Clinical Features for Pseudocholinesterase Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

177400

Clinical synopsis from OMIM:

177400

Drugs & Therapeutics for Pseudocholinesterase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Pseudocholinesterase Deficiency

Drug clinical trials:

Search ClinicalTrials for Pseudocholinesterase Deficiency

Search NIH Clinical Center for Pseudocholinesterase Deficiency

Search CenterWatch for Pseudocholinesterase Deficiency

Genetic Tests for Pseudocholinesterase Deficiency

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Pseudocholinesterase Deficiency:

33
Liver, Skeletal muscle

Animal Models for Pseudocholinesterase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Pseudocholinesterase Deficiency

Sources:
51PubMed
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Articles related to Pseudocholinesterase Deficiency:

(show all 34)
idTitleAuthorsYear
1
Organophosphate exposure with pseudocholinesterase deficiency. (23738571)
2013
2
Pseudocholinesterase deficiency in specific populations. (22343611)
2012
3
Urgent cesarean delivery and prolonged ventilatory support in a parturient with Fontan circulation and undiagnosed pseudocholinesterase deficiency. (22632745)
2012
4
Urgent cesarean delivery and prolonged ventilatory support in a parturient with Fontan circulation and undiagnosed pseudocholinesterase deficiency. (21388803)
2011
5
Pseudocholinesterase deficiency in an ECT patient: a case report. (21777725)
2011
6
Rocuronium antagonized by sugammadex for series of electroconvulsive therapy (ECT) in a patient with pseudocholinesterase deficiency. (21206368)
2011
7
Optimizing electroconvulsive therapy in non-suspected pseudocholinesterase deficiency: laryngeal mask use and neuromuscular selection. (21051690)
2010
8
Pseudocholinesterase deficiency: a comprehensive review of genetic, acquired, and drug influences. (20879632)
2010
9
Safe use of landiolol hydrochloride in a patient with marked pseudocholinesterase deficiency. (20155298)
2010
10
Pseudocholinesterase enzyme deficiency: a case series and review of the literature. (20062665)
2009
11
A case of pseudocholinesterase deficiency in the PACU. (17666297)
2007
12
Prehospital airway management complicated by reported pseudocholinesterase deficiency. (17613911)
2007
13
Pseudocholinesterase deficiency and electroconvulsive therapy. (17805000)
2007
14
Pseudocholinesterase deficiency associated with HELLP syndrome. (15311366)
2004
15
Prolonged neuromuscular blockade as a result of malnutrition-induced pseudocholinesterase deficiency. (14984858)
2004
16
Heterozygous pseudocholinesterase deficiency: a case report and review of the literature. (12856264)
2003
17
A case of pseudocholinesterase deficiency in the neonate. (10614702)
1999
18
Acquired pseudocholinesterase deficiency after high-dose cyclophosphamide. (10627651)
1999
19
Pseudocholinesterase deficiency: a dangerous, unrecognized complication of the ovarian hyperstimulation syndrome. (10370752)
1999
20
Remifentanil's effect is not prolonged in a patient with pseudocholinesterase deficiency. (10439780)
1999
21
A patient with Sanfilippo syndrome and pseudocholinesterase deficiency, further complicated by post-tonsillectomy haemorrhage. (2496620)
1989
22
Violent fasciculations may not signal pseudocholinesterase deficiency. (3994017)
1985
23
Prolonged postoperative succinylcholine-induced apnea with pseudocholinesterase deficiency. (7132340)
1982
24
Plasma pseudocholinesterase deficiency associated with diethylstilbestrol therapy. (569997)
1978
25
Pseudocholinesterase deficiency: an additional preoperative consideration in outpatient diagnostic procedures. (877646)
1977
26
Letter: chloroprocaine and pseudocholinesterase deficiency. (1173871)
1975
27
Prolonged paralysis in pseudocholinesterase deficiency. (4347326)
1973
28
Pseudocholinesterase deficiency. (5664914)
1968
29
Prolonged postoperative apnea with pseudocholinesterase deficiency. (6039104)
1967
30
Pseudocholinesterases. II. Two cases of pseudocholinesterase deficiency. (5915002)
1966
31
COMPLETE PSEUDOCHOLINESTERASE DEFICIENCY: GENETIC AND IMMUNOLOGIC CHARACTERIZATION. (14271308)
1965
32
LEFT-SIDED AMOEBIC LIVER ABSCESS WITH PULMONARY INVOLVEMENT, PERICARDITIS, AND PSEUDOCHOLINESTERASE DEFICIENCY. (14228159)
1965
33
Apnoea due to suxamethonium associated with familial pseudocholinesterase deficiency. (14495023)
1962
34
Suxamethonium apnoea in an infant; expression of familial pseudocholinesterase deficiency in three generations. (14404862)
1960

Genetic Variations for Pseudocholinesterase Deficiency

Expression for genes affiliated with Pseudocholinesterase Deficiency

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

Search GEO for disease gene expression data for Pseudocholinesterase Deficiency.

Pathways for genes affiliated with Pseudocholinesterase Deficiency

Compounds for genes affiliated with Pseudocholinesterase Deficiency

GO Terms for genes affiliated with Pseudocholinesterase Deficiency

Products for genes affiliated with Pseudocholinesterase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pseudocholinesterase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet