MCID: PSD029
MIFTS: 38

Pseudocholinesterase Deficiency

Categories: Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Pseudocholinesterase Deficiency

MalaCards integrated aliases for Pseudocholinesterase Deficiency:

Name: Pseudocholinesterase Deficiency 49 24 71 51 69
Butyrylcholinesterase Deficiency 49 24 55 71 69
Suxamethonium Sensitivity 49 24 71 28 69
Deficiency of Butyrylcholine Esterase 24 28
Succinylcholine Sensitivity 49 24
Apnea, Postanesthetic 49 69
Postanesthetic Apnea 71 28
Acholinesterasemia 71 69
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type 28
Fluoride-Resistant Butyrylcholinesterase Deficiency Japanese Type 71
Fluoride-Resistant Hypocholinesterasemia Japanese Type 71
Pseudocholinesterase E1 Deficiency 24
Cholinesterase Ii Deficiency 24
Cholinesterase 2 Deficiency 49
Pseudocholinesterase E1 49
Butyrylcholinesterase 13
Bche Deficiency 71

Characteristics:

Orphanet epidemiological data:

55
butyrylcholinesterase deficiency
Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

HPO:

31
pseudocholinesterase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Orphanet 55 ORPHA132
MESH via Orphanet 42 C537417
UMLS via Orphanet 70 C1283400
MeSH 41 D008661
SNOMED-CT via HPO 65 258211005 1023001 248583008

Summaries for Pseudocholinesterase Deficiency

NIH Rare Diseases : 49 Pseudocholinesterase deficiency is a condition that causes increased sensitivity to certain muscle relaxant drugs used during general anesthesia (choline esters). These drugs relax the muscles used for movement, including those used for breathing. Normally, the muscles are able to move again a few minutes after the drugs are given. People with pseudocholinesterase deficiency may not be able to move or breathe on their own for a few hours after these drugs are given. They therefore may need mechanical ventilation until the drugs are cleared from the body. People with this condition may also have increased sensitivity to other types of drugs as well as to some agricultural pesticides. Pseudocholinesterase deficiency can be inherited (genetic) or acquired. When it is inherited, it is autosomal recessive and caused by mutations in the BCHE gene. Acquired pseudocholinesterase deficiency may have various causes such as chronic infection, kidney or liver disease, malnutrition, major burns, cancer, or various medications. Last updated: 9/16/2016

MalaCards based summary : Pseudocholinesterase Deficiency, also known as butyrylcholinesterase deficiency, is related to ovarian hyperstimulation syndrome and hellp syndrome, and has symptoms including apnea and apnea. An important gene associated with Pseudocholinesterase Deficiency is BCHE (Butyrylcholinesterase), and among its related pathways/superpathways is Transmission across Chemical Synapses. The drugs Adenosine and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and skeletal muscle, and related phenotype is reproductive system.

Genetics Home Reference : 24 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 : 72 Pseudocholinesterase deficiency is an inherited blood plasma enzyme abnormality in which the body\'s... more...

Related Diseases for Pseudocholinesterase Deficiency

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

# Related Disease Score Top Affiliating Genes
1 ovarian hyperstimulation syndrome 9.9
2 hellp syndrome 9.9
3 pericarditis 9.9
4 laryngitis 9.9
5 alzheimer disease 9.7
6 hepatitis 9.7

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



Diseases related to Pseudocholinesterase Deficiency

Symptoms & Phenotypes for Pseudocholinesterase Deficiency

Human phenotypes related to Pseudocholinesterase Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 apnea 31 HP:0002104

UMLS symptoms related to Pseudocholinesterase Deficiency:


apnea

MGI Mouse Phenotypes related to Pseudocholinesterase Deficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 8.62 BCHE CASK

Drugs & Therapeutics for Pseudocholinesterase Deficiency

Drugs for Pseudocholinesterase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 1 58-61-7 60961
2 Analgesics Phase 1
3 Neurotransmitter Agents Phase 1
4 Vasodilator Agents Phase 1
5 Peripheral Nervous System Agents Phase 1
6 Anti-Arrhythmia Agents Phase 1
7 Pharmaceutical Solutions Phase 1
8
Succinylcholine Approved 306-40-1 5314
9
Metronidazole Approved 443-48-1 4173
10
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
11 Central Nervous System Depressants
12 Neuromuscular Agents
13 Neuromuscular Blocking Agents
14 Neuromuscular Depolarizing Agents
15 Anesthetics
16 Anesthetics, General
17 Anesthetics, Intravenous
18 Hypnotics and Sedatives

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study to Investigate the Safety and Tolerability of AZD8848 in Butyrylcholinesterase Deficient Subjects Completed NCT01205867 Phase 1 AZD8848
2 Comparison on Succinylcholine Onset Time Assessed by Train of Four Stimulation Versus Clinical Judgment During Rapid Sequence Induction of Anesthesia Recruiting NCT03415607
3 Race-Specific Propofol Titration to Effect for Procedural Sedation Recruiting NCT03290859

Search NIH Clinical Center for Pseudocholinesterase Deficiency

Genetic Tests for Pseudocholinesterase Deficiency

Genetic tests related to Pseudocholinesterase Deficiency:

# Genetic test Affiliating Genes
1 Deficiency of Butyrylcholine Esterase 28
2 Postanesthetic Apnea 28
3 Suxamethonium Sensitivity 28
4 Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type 28

Anatomical Context for Pseudocholinesterase Deficiency

MalaCards organs/tissues related to Pseudocholinesterase Deficiency:

38
Liver, Kidney, Skeletal Muscle

Publications for Pseudocholinesterase Deficiency

Articles related to Pseudocholinesterase Deficiency:

(show all 40)
# Title Authors Year
1
Dental local anesthesia for patients with pseudocholinesterase deficiency. ( 29345320 )
2018
2
Unknown Pseudocholinesterase Deficiency in a Patient Undergoing TIVA with Planned Motor Evoked Potential Monitoring: A Case Report. ( 27501655 )
2016
3
A Case of Pseudocholinesterase Deficiency Resulting From Malnutrition. ( 27467903 )
2016
4
PSEUDOCHOLINESTERASE DEFICIENCY IN A OCTOGENARIAN UNDERGOING TOTAL INTRAVENOUS ANESTHESIA; IMPLICATIONS FOR NEUROMONITORING. ( 26442391 )
2015
5
Allergic reaction to suxamethonium during emergency caesarean section and pseudocholinesterase deficiency in the same patient. ( 24958651 )
2014
6
[Residual relaxant block due to pseudocholinesterase deficiency - First manifestation in an elderly patient]. ( 24446003 )
2014
7
Delayed recovery from paralysis by succinylcholine in patient with preoperatively unrecognized and inherited pseudocholinesterase deficiency. ( 24478856 )
2013
8
Organophosphate exposure with pseudocholinesterase deficiency. ( 23738571 )
2013
9
Urgent cesarean delivery and prolonged ventilatory support in a parturient with Fontan circulation and undiagnosed pseudocholinesterase deficiency. ( 22632745 )
2012
10
Pseudocholinesterase deficiency in specific populations. ( 22343611 )
2012
11
Pseudocholinesterase deficiency in an ECT patient: a case report. ( 21777725 )
2011
12
Rocuronium antagonized by sugammadex for series of electroconvulsive therapy (ECT) in a patient with pseudocholinesterase deficiency. ( 21206368 )
2011
13
Urgent cesarean delivery and prolonged ventilatory support in a parturient with Fontan circulation and undiagnosed pseudocholinesterase deficiency. ( 21388803 )
2011
14
Pseudocholinesterase deficiency: a comprehensive review of genetic, acquired, and drug influences. ( 20879632 )
2010
15
Safe use of landiolol hydrochloride in a patient with marked pseudocholinesterase deficiency. ( 20155298 )
2010
16
Optimizing electroconvulsive therapy in non-suspected pseudocholinesterase deficiency: laryngeal mask use and neuromuscular selection. ( 21051690 )
2010
17
A case of pseudocholinesterase deficiency in the PACU. ( 17666297 )
2007
18
Pseudocholinesterase deficiency and electroconvulsive therapy. ( 17805000 )
2007
19
Prehospital airway management complicated by reported pseudocholinesterase deficiency. ( 17613911 )
2007
20
Prolonged neuromuscular blockade as a result of malnutrition-induced pseudocholinesterase deficiency. ( 14984858 )
2004
21
Pseudocholinesterase deficiency associated with HELLP syndrome. ( 15311366 )
2004
22
Heterozygous pseudocholinesterase deficiency: a case report and review of the literature. ( 12856264 )
2003
23
Acquired pseudocholinesterase deficiency after high-dose cyclophosphamide. ( 10627651 )
1999
24
Pseudocholinesterase deficiency: a dangerous, unrecognized complication of the ovarian hyperstimulation syndrome. ( 10370752 )
1999
25
A case of pseudocholinesterase deficiency in the neonate. ( 10614702 )
1999
26
Remifentanil's effect is not prolonged in a patient with pseudocholinesterase deficiency. ( 10439780 )
1999
27
A patient with Sanfilippo syndrome and pseudocholinesterase deficiency, further complicated by post-tonsillectomy haemorrhage. ( 2496620 )
1989
28
Violent fasciculations may not signal pseudocholinesterase deficiency. ( 3994017 )
1985
29
Prolonged postoperative succinylcholine-induced apnea with pseudocholinesterase deficiency. ( 7132340 )
1982
30
Plasma pseudocholinesterase deficiency associated with diethylstilbestrol therapy. ( 569997 )
1978
31
Pseudocholinesterase deficiency: an additional preoperative consideration in outpatient diagnostic procedures. ( 877646 )
1977
32
Letter: chloroprocaine and pseudocholinesterase deficiency. ( 1173871 )
1975
33
Prolonged paralysis in pseudocholinesterase deficiency. ( 4347326 )
1973
34
Pseudocholinesterase deficiency. ( 5664914 )
1968
35
Prolonged postoperative apnea with pseudocholinesterase deficiency. ( 6039104 )
1967
36
Pseudocholinesterases. II. Two cases of pseudocholinesterase deficiency. ( 5915002 )
1966
37
LEFT-SIDED AMOEBIC LIVER ABSCESS WITH PULMONARY INVOLVEMENT, PERICARDITIS, AND PSEUDOCHOLINESTERASE DEFICIENCY. ( 14228159 )
1965
38
COMPLETE PSEUDOCHOLINESTERASE DEFICIENCY: GENETIC AND IMMUNOLOGIC CHARACTERIZATION. ( 14271308 )
1965
39
Apnoea due to suxamethonium associated with familial pseudocholinesterase deficiency. ( 14495023 )
1962
40
Suxamethonium apnoea in an infant; expression of familial pseudocholinesterase deficiency in three generations. ( 14404862 )
1960

Variations for Pseudocholinesterase Deficiency

ClinVar genetic disease variations for Pseudocholinesterase Deficiency:

6 (show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 BCHE NM_000055.2(BCHE): c.293A> G (p.Asp98Gly) single nucleotide variant Pathogenic/Likely pathogenic rs1799807 GRCh37 Chromosome 3, 165548529: 165548529
2 BCHE NM_000055.2(BCHE): c.435delTinsAG (p.Phe146Valfs) indel Pathogenic rs398124632 GRCh37 Chromosome 3, 165548387: 165548387
3 BCHE BCHE, ALU INS, EX2 insertion Pathogenic
4 BCHE NM_000055.3(BCHE): c.1072T> A (p.Leu358Ile) single nucleotide variant Pathogenic rs121918557 GRCh37 Chromosome 3, 165547750: 165547750
5 BCHE NM_000055.3(BCHE): c.467A> G (p.Tyr156Cys) single nucleotide variant Pathogenic rs121918558 GRCh37 Chromosome 3, 165548355: 165548355
6 BCHE NM_000055.3(BCHE): c.1004T> C (p.Leu335Pro) single nucleotide variant Pathogenic/Likely pathogenic rs104893684 GRCh37 Chromosome 3, 165547818: 165547818
7 BCHE BCHE*FS126 deletion Pathogenic
8 BCHE BCHE, GLY115ASP AND IVS3AS, T-C, -14 single nucleotide variant Pathogenic
9 CASK NM_003688.3(CASK): c.2377C> T (p.Gln793Ter) single nucleotide variant Pathogenic rs749742837 GRCh38 Chromosome X, 41531135: 41531135
10 BCHE NM_000055.3(BCHE): c.884A> G (p.Lys295Arg) single nucleotide variant Likely pathogenic rs115624085 GRCh37 Chromosome 3, 165547938: 165547938
11 BCHE NM_000055.3(BCHE): c.428G> A (p.Gly143Asp) single nucleotide variant Pathogenic/Likely pathogenic rs201820739 GRCh38 Chromosome 3, 165830606: 165830606
12 BCHE NM_000055.3(BCHE): c.1685-2A> G single nucleotide variant Likely pathogenic rs779366544 GRCh38 Chromosome 3, 165773508: 165773508
13 BCHE NM_000055.3(BCHE): c.1684+1G> T single nucleotide variant Likely pathogenic rs1057516496 GRCh37 Chromosome 3, 165503932: 165503932
14 BCHE NM_000055.3(BCHE): c.1576C> T (p.Gln526Ter) single nucleotide variant Likely pathogenic rs1057517144 GRCh37 Chromosome 3, 165504041: 165504041
15 BCHE NM_000055.3(BCHE): c.1528G> T (p.Glu510Ter) single nucleotide variant Likely pathogenic rs1057516482 GRCh38 Chromosome 3, 165786301: 165786301
16 BCHE NM_000055.3(BCHE): c.1517+1G> T single nucleotide variant Likely pathogenic rs1057517218 GRCh37 Chromosome 3, 165547304: 165547304
17 BCHE NM_000055.3(BCHE): c.1284C> A (p.Cys428Ter) single nucleotide variant Likely pathogenic rs762341786 GRCh38 Chromosome 3, 165829750: 165829750
18 BCHE NM_000055.3(BCHE): c.1240delC (p.Arg414Valfs) deletion Likely pathogenic rs1057517288 GRCh38 Chromosome 3, 165829794: 165829794
19 BCHE NM_000055.3(BCHE): c.1183G> T (p.Glu395Ter) single nucleotide variant Likely pathogenic rs1057517221 GRCh37 Chromosome 3, 165547639: 165547639
20 BCHE NM_000055.3(BCHE): c.1073dupT (p.Leu358Phefs) duplication Likely pathogenic rs1057516450 GRCh38 Chromosome 3, 165829961: 165829961
21 BCHE NM_000055.3(BCHE): c.1027dupA (p.Thr343Asnfs) duplication Likely pathogenic rs754214624 GRCh37 Chromosome 3, 165547795: 165547795
22 BCHE NM_000055.3(BCHE): c.1015C> T (p.Gln339Ter) single nucleotide variant Likely pathogenic rs1057517265 GRCh38 Chromosome 3, 165830019: 165830019
23 BCHE NM_000055.3(BCHE): c.895G> T (p.Glu299Ter) single nucleotide variant Likely pathogenic rs747196387 GRCh37 Chromosome 3, 165547927: 165547927
24 BCHE NM_000055.3(BCHE): c.793delT (p.Tyr265Metfs) deletion Likely pathogenic rs778568717 GRCh38 Chromosome 3, 165830241: 165830241
25 BCHE NM_000055.3(BCHE): c.757G> T (p.Gly253Ter) single nucleotide variant Likely pathogenic rs140080572 GRCh38 Chromosome 3, 165830277: 165830277
26 BCHE NM_000055.3(BCHE): c.666_667delCT (p.Phe223Trpfs) deletion Likely pathogenic rs747983616 GRCh38 Chromosome 3, 165830367: 165830368
27 BCHE NM_000055.3(BCHE): c.635C> T (p.Ala212Val) single nucleotide variant Likely pathogenic rs114706984 GRCh38 Chromosome 3, 165830399: 165830399
28 BCHE NM_000055.3(BCHE): c.619C> T (p.Gln207Ter) single nucleotide variant Likely pathogenic rs1057517208 GRCh37 Chromosome 3, 165548203: 165548203
29 BCHE NM_000055.3(BCHE): c.495_498delAAGA (p.Arg166Leufs) deletion Likely pathogenic rs772259613 GRCh37 Chromosome 3, 165548324: 165548327
30 BCHE NM_000055.3(BCHE): c.493delG (p.Glu165Lysfs) deletion Likely pathogenic rs1057516707 GRCh37 Chromosome 3, 165548329: 165548329
31 BCHE NM_000055.3(BCHE): c.439C> T (p.Gln147Ter) single nucleotide variant Likely pathogenic rs760182781 GRCh38 Chromosome 3, 165830595: 165830595
32 BCHE NM_000055.3(BCHE): c.206_207delTT (p.Leu69Profs) deletion Likely pathogenic rs1057516784 GRCh38 Chromosome 3, 165830827: 165830828
33 BCHE NM_000055.3(BCHE): c.110delA (p.Lys37Argfs) deletion Likely pathogenic rs1057517439 GRCh38 Chromosome 3, 165830924: 165830924

Expression for Pseudocholinesterase Deficiency

Search GEO for disease gene expression data for Pseudocholinesterase Deficiency.

Pathways for Pseudocholinesterase Deficiency

Pathways related to Pseudocholinesterase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.48 BCHE CASK

GO Terms for Pseudocholinesterase Deficiency

Sources for Pseudocholinesterase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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