MCID: PSD029
MIFTS: 31

Pseudocholinesterase Deficiency malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Pseudocholinesterase Deficiency

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Sources:
41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 45OMIM, 22GTR, 60UMLS, 34MESH via Orphanet, 61UMLS via Orphanet
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Pseudocholinesterase Deficiency, Aliases & Descriptions:

Name: Pseudocholinesterase Deficiency 41 21 43 60
Butyrylcholinesterase Deficiency 41 20 21 47 45 60
Suxamethonium Sensitivity 41 21 60
Deficiency of Butyrylcholine Esterase 21 22
Succinylcholine Sensitivity 41 21
Pseudocholinesterase E1 Deficiency 21
 
Cholinesterase Ii Deficiency 21
Cholinesterase 2 Deficiency 41
Pseudocholinesterase E1 41
Apnea, Postanesthetic 41
Camptocormism 41
Camptocormia 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
butyrylcholinesterase deficiency:
Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 132
MESH via Orphanet34 C537417
UMLS via Orphanet61 C1283400

Summaries for Pseudocholinesterase Deficiency

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NIH Rare Diseases:41 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 based summary: Pseudocholinesterase Deficiency, also known as butyrylcholinesterase deficiency, is related to myositis and multiple system atrophy, and has symptoms including autosomal recessive inheritanceand apnea. An important gene associated with Pseudocholinesterase Deficiency is BCHE (butyrylcholinesterase). Affiliated tissues include skeletal muscle and liver.

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:45 177400

Related Diseases for Pseudocholinesterase Deficiency

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Diseases related to Pseudocholinesterase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
idRelated DiseaseScoreTop Affiliating Genes
1myositis10.3
2multiple system atrophy10.2
3myopathy10.2
4polymyositis10.2
5ovarian hyperstimulation syndrome10.2
6hellp syndrome10.2
7laryngitis10.2
8pericarditis10.2
9motor neuron disease10.1
10conversion disorder10.1
11neuronitis10.1
12inclusion body myositis10.1
13camptocormism10.1
14focal myositis10.1
15duchenne muscular dystrophy10.0
16calpainopathy10.0
17chronic inflammatory demyelinating polyneuropathy10.0
18myasthenia gravis10.0
19nemaline myopathy10.0
20demyelinating polyneuropathy10.0
21dystonia10.0
22hypothyroidism10.0
23muscular dystrophy10.0
24polyneuropathy10.0
25tetanus10.0
26myofibrillar myopathy10.0

Graphical network of the top 20 diseases related to Pseudocholinesterase Deficiency:



Diseases related to pseudocholinesterase deficiency

Symptoms for Pseudocholinesterase Deficiency

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Symptoms by clinical synopsis from OMIM:

177400

Clinical features from OMIM:

177400

HPO human phenotypes related to Pseudocholinesterase Deficiency:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 apnea HP:0002104

Drugs & Therapeutics for Pseudocholinesterase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Pseudocholinesterase Deficiency

Search NIH Clinical Center for Pseudocholinesterase Deficiency

Genetic Tests for Pseudocholinesterase Deficiency

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Genetic tests related to Pseudocholinesterase Deficiency:

id Genetic test Affiliating Genes
1 Butyrylcholinesterase Deficiency20 BCHE
2 Deficiency of Butyrylcholine Esterase22

Anatomical Context for Pseudocholinesterase Deficiency

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MalaCards organs/tissues related to Pseudocholinesterase Deficiency:

31
Skeletal muscle, Liver

Animal Models for Pseudocholinesterase Deficiency or affiliated genes

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Publications for Pseudocholinesterase Deficiency

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Articles related to Pseudocholinesterase Deficiency:

(show all 35)
idTitleAuthorsYear
1
Allergic reaction to suxamethonium during emergency caesarean section and pseudocholinesterase deficiency in the same patient. (24958651)
2014
2
Delayed recovery from paralysis by succinylcholine in patient with preoperatively unrecognized and inherited pseudocholinesterase deficiency. (24478856)
2013
3
Organophosphate exposure with pseudocholinesterase deficiency. (23738571)
2013
4
Pseudocholinesterase deficiency in specific populations. (22343611)
2012
5
Urgent cesarean delivery and prolonged ventilatory support in a parturient with Fontan circulation and undiagnosed pseudocholinesterase deficiency. (22632745)
2012
6
Urgent cesarean delivery and prolonged ventilatory support in a parturient with Fontan circulation and undiagnosed pseudocholinesterase deficiency. (21388803)
2011
7
Pseudocholinesterase deficiency in an ECT patient: a case report. (21777725)
2011
8
Rocuronium antagonized by sugammadex for series of electroconvulsive therapy (ECT) in a patient with pseudocholinesterase deficiency. (21206368)
2011
9
Optimizing electroconvulsive therapy in non-suspected pseudocholinesterase deficiency: laryngeal mask use and neuromuscular selection. (21051690)
2010
10
Pseudocholinesterase deficiency: a comprehensive review of genetic, acquired, and drug influences. (20879632)
2010
11
Safe use of landiolol hydrochloride in a patient with marked pseudocholinesterase deficiency. (20155298)
2010
12
A case of pseudocholinesterase deficiency in the PACU. (17666297)
2007
13
Prehospital airway management complicated by reported pseudocholinesterase deficiency. (17613911)
2007
14
Pseudocholinesterase deficiency and electroconvulsive therapy. (17805000)
2007
15
Pseudocholinesterase deficiency associated with HELLP syndrome. (15311366)
2004
16
Prolonged neuromuscular blockade as a result of malnutrition-induced pseudocholinesterase deficiency. (14984858)
2004
17
Heterozygous pseudocholinesterase deficiency: a case report and review of the literature. (12856264)
2003
18
A case of pseudocholinesterase deficiency in the neonate. (10614702)
1999
19
Acquired pseudocholinesterase deficiency after high-dose cyclophosphamide. (10627651)
1999
20
Pseudocholinesterase deficiency: a dangerous, unrecognized complication of the ovarian hyperstimulation syndrome. (10370752)
1999
21
Remifentanil's effect is not prolonged in a patient with pseudocholinesterase deficiency. (10439780)
1999
22
A patient with Sanfilippo syndrome and pseudocholinesterase deficiency, further complicated by post-tonsillectomy haemorrhage. (2496620)
1989
23
Violent fasciculations may not signal pseudocholinesterase deficiency. (3994017)
1985
24
Prolonged postoperative succinylcholine-induced apnea with pseudocholinesterase deficiency. (7132340)
1982
25
Plasma pseudocholinesterase deficiency associated with diethylstilbestrol therapy. (569997)
1978
26
Pseudocholinesterase deficiency: an additional preoperative consideration in outpatient diagnostic procedures. (877646)
1977
27
Letter: chloroprocaine and pseudocholinesterase deficiency. (1173871)
1975
28
Prolonged paralysis in pseudocholinesterase deficiency. (4347326)
1973
29
Pseudocholinesterase deficiency. (5664914)
1968
30
Prolonged postoperative apnea with pseudocholinesterase deficiency. (6039104)
1967
31
Pseudocholinesterases. II. Two cases of pseudocholinesterase deficiency. (5915002)
1966
32
COMPLETE PSEUDOCHOLINESTERASE DEFICIENCY: GENETIC AND IMMUNOLOGIC CHARACTERIZATION. (14271308)
1965
33
LEFT-SIDED AMOEBIC LIVER ABSCESS WITH PULMONARY INVOLVEMENT, PERICARDITIS, AND PSEUDOCHOLINESTERASE DEFICIENCY. (14228159)
1965
34
Apnoea due to suxamethonium associated with familial pseudocholinesterase deficiency. (14495023)
1962
35
Suxamethonium apnoea in an infant; expression of familial pseudocholinesterase deficiency in three generations. (14404862)
1960

Variations for Pseudocholinesterase Deficiency

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Expression for genes affiliated with Pseudocholinesterase Deficiency

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Search GEO for disease gene expression data for Pseudocholinesterase Deficiency.

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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Sources for Pseudocholinesterase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet