MCID: PSD029
MIFTS: 38

Pseudocholinesterase Deficiency

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Pseudocholinesterase Deficiency

MalaCards integrated aliases for Pseudocholinesterase Deficiency:

Name: Pseudocholinesterase Deficiency 50 25 71 52 69
Butyrylcholinesterase Deficiency 50 24 25 56 54 71 69
Suxamethonium Sensitivity 50 25 71 29 69
Deficiency of Butyrylcholine Esterase 25 29
Succinylcholine Sensitivity 50 25
Apnea, Postanesthetic 50 69
Postanesthetic Apnea 71 29
Acholinesterasemia 71 69
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type 29
Fluoride-Resistant Butyrylcholinesterase Deficiency Japanese Type 71
Fluoride-Resistant Hypocholinesterasemia Japanese Type 71
Pseudocholinesterase E1 Deficiency 25
Cholinesterase Ii Deficiency 25
Cholinesterase 2 Deficiency 50
Pseudocholinesterase E1 50
Butyrylcholinesterase 13
Bche Deficiency 71

Characteristics:

Orphanet epidemiological data:

56
butyrylcholinesterase deficiency
Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
plasma cholinesterase
physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns


HPO:

32
butyrylcholinesterase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Orphanet 56 ORPHA132
MESH via Orphanet 43 C537417
UMLS via Orphanet 70 C1283400
MeSH 42 D008661
SNOMED-CT via HPO 65 258211005 1023001 248583008

Summaries for Pseudocholinesterase Deficiency

NIH Rare Diseases : 50 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 neuroblastoma and dementia, and has symptoms including apnea An important gene associated with Pseudocholinesterase Deficiency is BCHE (Butyrylcholinesterase). The drugs Rivastigmine and Donepezil have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and skeletal muscle.

Genetics Home Reference : 25 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.

UniProtKB/Swiss-Prot : 71 Butyrylcholinesterase deficiency: A metabolic disorder characterized by prolonged apnea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency.

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:

(show all 14)
id Related Disease Score Top Affiliating Genes
1 neuroblastoma 10.3
2 dementia 10.1
3 alzheimer disease 10.0
4 coronary artery disease 9.9
5 artery disease 9.9
6 cerebritis 9.9
7 hepatosplenic t-cell lymphoma 9.8
8 hyperhomocysteinemia 9.8
9 ovarian hyperstimulation syndrome 9.8
10 hellp syndrome 9.8
11 pericarditis 9.8
12 laryngitis 9.8
13 obesity 9.7
14 hepatitis 9.7

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



Diseases related to Pseudocholinesterase Deficiency

Symptoms & Phenotypes for Pseudocholinesterase Deficiency

Symptoms via clinical synopsis from OMIM:

54

Respiratory- Lung:
suxamethonium (succinylcholine) sensitivity
prolonged apnea after administration of suxamethonium


Clinical features from OMIM:

177400

Human phenotypes related to Pseudocholinesterase Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 apnea 32 HP:0002104

Drugs & Therapeutics for Pseudocholinesterase Deficiency

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

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
2
Donepezil Approved Phase 4 120014-06-4 3152
3 Cholinergic Agents Phase 4
4 Cholinesterase Inhibitors Phase 4
5 Neuroprotective Agents Phase 4
6 Neurotransmitter Agents Phase 4
7 Protective Agents Phase 4
8 Nootropic Agents Phase 4
9 Pharmaceutical Solutions Phase 1
10
Metronidazole Approved 443-48-1 4173
11
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
12 Anesthetics
13 Anesthetics, General
14 Anesthetics, Intravenous
15 Central Nervous System Depressants
16 Hypnotics and Sedatives

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Cholinesterase Inhibitors to Slow Progression of Visual Hallucinations in Parkinson&Apos;s Disease Recruiting NCT01856738 Phase 4 Rivastigmine;Placebo (for rivastigmine)
2 Effect of Acetylcholinesterase Inhibitors on the Gait of the Patients With Parkinson Disease Not yet recruiting NCT03011476 Phase 4 Donepezil;Placebos
3 Study to Investigate the Safety and Tolerability of AZD8848 in Butyrylcholinesterase Deficient Subjects Completed NCT01205867 Phase 1 AZD8848
4 Race-Specific Propofol Titration to Effect for Procedural Sedation Not yet recruiting NCT03290859

Search NIH Clinical Center for Pseudocholinesterase Deficiency

Genetic Tests for Pseudocholinesterase Deficiency

Genetic tests related to Pseudocholinesterase Deficiency:

id Genetic test Affiliating Genes
1 Deficiency of Butyrylcholine Esterase 29
2 Postanesthetic Apnea 29
3 Suxamethonium Sensitivity 29
4 Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type 29
5 Butyrylcholinesterase Deficiency 24 BCHE

Anatomical Context for Pseudocholinesterase Deficiency

MalaCards organs/tissues related to Pseudocholinesterase Deficiency:

39
Liver, Kidney, Skeletal Muscle

Publications for Pseudocholinesterase Deficiency

Articles related to Pseudocholinesterase Deficiency:

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

Variations for Pseudocholinesterase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Pseudocholinesterase Deficiency:

71 (show all 38)
id Symbol AA change Variation ID SNP ID
1 BCHE p.Asp98Gly VAR_002360 rs1799807
2 BCHE p.Leu358Ile VAR_002362 rs121918557
3 BCHE p.Ala567Thr VAR_002364 rs1803274
4 BCHE p.Thr52Met VAR_040012 rs56309853
5 BCHE p.Phe56Ile VAR_040013 rs531738678
6 BCHE p.Tyr61Cys VAR_040014 rs116097205
7 BCHE p.Pro65Ser VAR_040015 rs148170012
8 BCHE p.Asp98His VAR_040016
9 BCHE p.Asn124Tyr VAR_040017
10 BCHE p.Pro128Ser VAR_040018 rs3732880
11 BCHE p.Gly143Asp VAR_040019 rs201820739
12 BCHE p.Leu153Phe VAR_040020 rs747598704
13 BCHE p.Tyr156Cys VAR_040021 rs121918558
14 BCHE p.Val170Met VAR_040022 rs527843566
15 BCHE p.Asp198Glu VAR_040023 rs781368801
16 BCHE p.Ser226Gly VAR_040024 rs370077923
17 BCHE p.Ala227Val VAR_040025
18 BCHE p.Ala229Thr VAR_040026
19 BCHE p.Thr271Met VAR_040027 rs28933389
20 BCHE p.Thr278Pro VAR_040028
21 BCHE p.Lys295Arg VAR_040030 rs115624085
22 BCHE p.Leu335Pro VAR_040031 rs104893684
23 BCHE p.Ala356Asp VAR_040032 rs770337031
24 BCHE p.Gly393Arg VAR_040033 rs115129687
25 BCHE p.Arg414Cys VAR_040034 rs745364489
26 BCHE p.Gly418Val VAR_040035 rs28933390
27 BCHE p.Phe446Ser VAR_040036
28 BCHE p.Glu488Lys VAR_040037 rs200998515
29 BCHE p.Trp499Arg VAR_040038
30 BCHE p.Phe502Leu VAR_040039 rs769316835
31 BCHE p.Glu525Val VAR_040040 rs121918556
32 BCHE p.Arg543Cys VAR_040041 rs199660374
33 BCHE p.Gln546Leu VAR_040042
34 BCHE p.Gly103Arg VAR_072095
35 BCHE p.Glu118Asp VAR_072096
36 BCHE p.Val232Asp VAR_072098
37 BCHE p.Gly361Cys VAR_072100
38 BCHE p.Ala62Val VAR_072730

ClinVar genetic disease variations for Pseudocholinesterase Deficiency:

6 (show all 32)
id Gene Variation Type Significance SNP ID Assembly Location
1 BCHE BCHE, ALU INS, EX2 insertion Pathogenic
2 BCHE NM_000055.2(BCHE): c.293A> G (p.Asp98Gly) single nucleotide variant Pathogenic rs1799807 GRCh37 Chromosome 3, 165548529: 165548529
3 BCHE NM_000055.2(BCHE): c.435delTinsAG (p.Phe146Valfs) indel Pathogenic rs398124632 GRCh37 Chromosome 3, 165548387: 165548387
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 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 BCHE NM_000055.3(BCHE): c.884A> G (p.Lys295Arg) single nucleotide variant Likely pathogenic rs115624085 GRCh37 Chromosome 3, 165547938: 165547938
10 BCHE NM_000055.3(BCHE): c.428G> A (p.Gly143Asp) single nucleotide variant Pathogenic rs201820739 GRCh38 Chromosome 3, 165830606: 165830606
11 BCHE NM_000055.3(BCHE): c.1685-2A> G single nucleotide variant Likely pathogenic rs779366544 GRCh37 Chromosome 3, 165491296: 165491296
12 BCHE NM_000055.3(BCHE): c.1684+1G> T single nucleotide variant Likely pathogenic rs1057516496 GRCh37 Chromosome 3, 165503932: 165503932
13 BCHE NM_000055.3(BCHE): c.1576C> T (p.Gln526Ter) single nucleotide variant Likely pathogenic rs1057517144 GRCh37 Chromosome 3, 165504041: 165504041
14 BCHE NM_000055.3(BCHE): c.1528G> T (p.Glu510Ter) single nucleotide variant Likely pathogenic rs1057516482 GRCh38 Chromosome 3, 165786301: 165786301
15 BCHE NM_000055.3(BCHE): c.1517+1G> T single nucleotide variant Likely pathogenic rs1057517218 GRCh37 Chromosome 3, 165547304: 165547304
16 BCHE NM_000055.3(BCHE): c.1284C> A (p.Cys428Ter) single nucleotide variant Likely pathogenic rs762341786 GRCh38 Chromosome 3, 165829750: 165829750
17 BCHE NM_000055.3(BCHE): c.1240delC (p.Arg414Valfs) deletion Likely pathogenic rs1057517288 GRCh38 Chromosome 3, 165829794: 165829794
18 BCHE NM_000055.3(BCHE): c.1183G> T (p.Glu395Ter) single nucleotide variant Likely pathogenic rs1057517221 GRCh38 Chromosome 3, 165829851: 165829851
19 BCHE NM_000055.3(BCHE): c.1073dupT (p.Leu358Phefs) duplication Likely pathogenic rs1057516450 GRCh38 Chromosome 3, 165829961: 165829961
20 BCHE NM_000055.3(BCHE): c.1027dupA (p.Thr343Asnfs) duplication Likely pathogenic rs754214624 GRCh37 Chromosome 3, 165547795: 165547795
21 BCHE NM_000055.3(BCHE): c.1015C> T (p.Gln339Ter) single nucleotide variant Likely pathogenic rs1057517265 GRCh38 Chromosome 3, 165830019: 165830019
22 BCHE NM_000055.3(BCHE): c.895G> T (p.Glu299Ter) single nucleotide variant Likely pathogenic rs747196387 GRCh37 Chromosome 3, 165547927: 165547927
23 BCHE NM_000055.3(BCHE): c.793delT (p.Tyr265Metfs) deletion Likely pathogenic rs778568717 GRCh38 Chromosome 3, 165830241: 165830241
24 BCHE NM_000055.3(BCHE): c.757G> T (p.Gly253Ter) single nucleotide variant Likely pathogenic rs140080572 GRCh38 Chromosome 3, 165830277: 165830277
25 BCHE NM_000055.3(BCHE): c.666_667delCT (p.Phe223Trpfs) deletion Likely pathogenic rs747983616 GRCh38 Chromosome 3, 165830367: 165830368
26 BCHE NM_000055.3(BCHE): c.635C> T (p.Ala212Val) single nucleotide variant Likely pathogenic rs114706984 GRCh38 Chromosome 3, 165830399: 165830399
27 BCHE NM_000055.3(BCHE): c.619C> T (p.Gln207Ter) single nucleotide variant Likely pathogenic rs1057517208 GRCh37 Chromosome 3, 165548203: 165548203
28 BCHE NM_000055.3(BCHE): c.495_498delAAGA (p.Arg166Leufs) deletion Likely pathogenic rs772259613 GRCh37 Chromosome 3, 165548324: 165548327
29 BCHE NM_000055.3(BCHE): c.493delG (p.Glu165Lysfs) deletion Likely pathogenic rs1057516707 GRCh38 Chromosome 3, 165830541: 165830541
30 BCHE NM_000055.3(BCHE): c.439C> T (p.Gln147Ter) single nucleotide variant Likely pathogenic rs760182781 GRCh38 Chromosome 3, 165830595: 165830595
31 BCHE NM_000055.3(BCHE): c.206_207delTT (p.Leu69Profs) deletion Likely pathogenic rs1057516784 GRCh38 Chromosome 3, 165830827: 165830828
32 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

GO Terms for Pseudocholinesterase Deficiency

Sources for Pseudocholinesterase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
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46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
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55 OMIM via Orphanet
59 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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