BCHED
MCID: BTY001
MIFTS: 52

Butyrylcholinesterase Deficiency (BCHED)

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

Aliases & Classifications for Butyrylcholinesterase Deficiency

MalaCards integrated aliases for Butyrylcholinesterase Deficiency:

Name: Butyrylcholinesterase Deficiency 57 53 25 59 75 73
Pseudocholinesterase Deficiency 57 76 53 25 75 55 73
Suxamethonium Sensitivity 53 25 75 29 6 73
Deficiency of Butyrylcholine Esterase 25 29 6
Postanesthetic Apnea 75 29 6
Acholinesterasemia 57 75 73
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type 29 6
Succinylcholine Sensitivity 53 25
Apnea, Postanesthetic 53 73
Bched 57 75
Fluoride-Resistant Butyrylcholinesterase Deficiency Japanese Type 75
Apnea, Postanesthetic, Susceptibility to, Due to Bche Deficiency 57
Fluoride-Resistant Hypocholinesterasemia Japanese Type 75
Apnea, Postanesthetic Due to Bche Deficiency 57
Pseudocholinesterase E1 Deficiency 25
Cholinesterase Ii Deficiency 25
Cholinesterase 2 Deficiency 53
Pseudocholinesterase E1 53
Butyrylcholinesterase 13

Characteristics:

Orphanet epidemiological data:

59
butyrylcholinesterase deficiency
Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

HPO:

32
butyrylcholinesterase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617936
Orphanet 59 ORPHA132
MESH via Orphanet 45 C537417
UMLS via Orphanet 74 C1283400
MeSH 44 D008661

Summaries for Butyrylcholinesterase Deficiency

NIH Rare Diseases : 53 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.

MalaCards based summary : Butyrylcholinesterase Deficiency, also known as pseudocholinesterase deficiency, is related to dementia and amnestic disorder, and has symptoms including apnea An important gene associated with Butyrylcholinesterase Deficiency is BCHE (Butyrylcholinesterase), and among its related pathways/superpathways are Transmission across Chemical Synapses and Peptide hormone metabolism. The drugs Adenosine and Vasodilator Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and skeletal muscle, and related phenotypes are apnea and lacrimation abnormality

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.

OMIM : 57 Individuals deficient in butyrylcholinesterase (BCHE) appear asymptomatic, apart from a heightened sensitivity to muscle relaxants such as suxamethonium (succinylcholine) and mivacurium, 2 BCHE carboxylester substrates. In individuals with usual BCHE levels, these drugs are rapidly hydrolyzed in plasma and their duration of action is short (less than 10 minutes). BCHE deficiency results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. Prolonged neuromuscular block occurs with BCHE deficiencies of marked severity (impairment over 70%). Although many acquired conditions may affect BCHE activity (e.g., liver or renal diseases, malnutrition, pregnancy, malignancy), BCHE deficiency is mainly due to mutations in the BCHE gene (summary by Delacour et al., 2014). (617936)

UniProtKB/Swiss-Prot : 75 Butyrylcholinesterase deficiency: An autosomal recessive metabolic condition characterized by increased sensitivity to certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium. BCHED results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency.

Wikipedia : 76 Pseudocholinesterase deficiency is an inherited blood plasma enzyme abnormality in which the body''s... more...

Related Diseases for Butyrylcholinesterase Deficiency

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 dementia 30.2 ACHE BCHE
2 amnestic disorder 29.4 ACHE BCHE
3 vascular dementia 29.4 ACHE BCHE
4 neuroblastoma 10.6
5 aging 10.3
6 diabetes mellitus 10.2
7 arteries, anomalies of 10.2
8 coronary artery anomaly 10.2
9 hepatosplenic t-cell lymphoma 10.1
10 multiple sclerosis 10.1
11 body mass index quantitative trait locus 1 10.1
12 retinitis pigmentosa 10.0
13 post-traumatic stress disorder 10.0
14 ischemia 10.0
15 glioma 10.0
16 cocaine intoxication 10.0
17 ovarian hyperstimulation syndrome 10.0
18 allergic hypersensitivity disease 10.0
19 hellp syndrome 10.0
20 pericarditis 10.0
21 alzheimer disease 9.9
22 agraphia 9.8 ACHE BCHE
23 cerebral amyloid angiopathy, cst3-related 9.8
24 bladder cancer 9.8
25 diabetes mellitus, noninsulin-dependent 9.8
26 prostate cancer 9.8
27 rheumatoid arthritis 9.8
28 homocysteinemia 9.8
29 pulmonary disease, chronic obstructive 9.8
30 myocardial infarction 9.8
31 coronary heart disease 5 9.8
32 diabetes mellitus, ketosis-prone 9.8
33 acute myocardial infarction 9.8
34 arthritis 9.8
35 hepatitis 9.8
36 sleep apnea 9.8
37 ehrlichiosis 9.8
38 hepatitis c 9.8
39 colon adenocarcinoma 9.8
40 adenocarcinoma 9.8
41 astroblastoma 9.8
42 hyperthyroidism 9.8
43 subacute delirium 9.8
44 homocystinuria 9.8
45 muscular dystrophy 9.8
46 cocaine dependence 9.8
47 growth hormone deficiency 9.8
48 hyperprolinemia 9.8
49 rapidly involuting congenital hemangioma 9.8
50 colonic pseudo-obstruction 9.8 ACHE BCHE

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



Diseases related to Butyrylcholinesterase Deficiency

Symptoms & Phenotypes for Butyrylcholinesterase Deficiency

Clinical features from OMIM:

617936

Human phenotypes related to Butyrylcholinesterase Deficiency:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 apnea 32 HP:0002104
2 lacrimation abnormality 32 HP:0000632
3 tachycardia 32 HP:0001649
4 spontaneous, recurrent epistaxis 32 HP:0004406
5 elevated mean arterial pressure 32 HP:0004972
6 functional motor deficit 32 HP:0004302
7 prolonged bleeding following procedure 32 HP:0011890

UMLS symptoms related to Butyrylcholinesterase Deficiency:


apnea

GenomeRNAi Phenotypes related to Butyrylcholinesterase Deficiency according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.56 BCHE
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.56 BCHE
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.56 BCHE
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.56 ACHE
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.56 ACHE BCHE
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.56 ACHE
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.56 BCHE
8 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.36 CASK
9 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.36 ACHE
10 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.36 CASK
11 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.36 ACHE CASK
12 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.36 ACHE
13 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.36 CASK
14 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.36 CASK
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.36 ACHE
16 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.36 ACHE
17 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.36 CASK

MGI Mouse Phenotypes related to Butyrylcholinesterase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 8.8 ACHE BCHE CASK

Drugs & Therapeutics for Butyrylcholinesterase Deficiency

Drugs for Butyrylcholinesterase 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 Vasodilator Agents Phase 1
3 Anti-Arrhythmia Agents Phase 1
4 Pharmaceutical Solutions Phase 1
5 Analgesics Phase 1
6 Neurotransmitter Agents Phase 1
7 Peripheral Nervous System Agents Phase 1
8
Succinylcholine Approved 306-40-1 5314
9
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
10
Metronidazole Approved 443-48-1 4173
11 Neuromuscular Blocking Agents
12 Anesthetics
13 Neuromuscular Agents
14 Neuromuscular Depolarizing Agents
15 Anesthetics, Intravenous
16 Hypnotics and Sedatives
17 Central Nervous System Depressants
18 Anesthetics, General

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 Butyrylcholinesterase Deficiency

Genetic Tests for Butyrylcholinesterase Deficiency

Genetic tests related to Butyrylcholinesterase Deficiency:

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

Anatomical Context for Butyrylcholinesterase Deficiency

MalaCards organs/tissues related to Butyrylcholinesterase Deficiency:

41
Liver, Kidney, Skeletal Muscle, Colon, Heart, Prostate, T Cells

Publications for Butyrylcholinesterase Deficiency

Articles related to Butyrylcholinesterase Deficiency:

(show all 50)
# Title Authors Year
1
Dental local anesthesia for patients with pseudocholinesterase deficiency. ( 29345320 )
2018
2
Butyrylcholinesterase Deficiency Promotes Adipose Tissue Growth and Hepatic Lipid Accumulation in Male Mice on High-Fat Diet. ( 27300766 )
2016
3
Unknown Pseudocholinesterase Deficiency in a Patient Undergoing TIVA with Planned Motor Evoked Potential Monitoring: A Case Report. ( 27501655 )
2016
4
A Case of Pseudocholinesterase Deficiency Resulting From Malnutrition. ( 27467903 )
2016
5
Butyrylcholinesterase deficiency. ( 27237801 )
2016
6
PSEUDOCHOLINESTERASE DEFICIENCY IN A OCTOGENARIAN UNDERGOING TOTAL INTRAVENOUS ANESTHESIA; IMPLICATIONS FOR NEUROMONITORING. ( 26442391 )
2015
7
Awareness during emergence from anaesthesia: significance of neuromuscular monitoring in patients with butyrylcholinesterase deficiency. ( 26174305 )
2015
8
Premature awakening and underuse of neuromuscular monitoring in a registry of patients with butyrylcholinesterase deficiency. ( 26174307 )
2015
9
Comparison between succinylcholine and rocuronium as neuromuscular blocking agents for electroconvulsive therapy in a patient with pseudocholinesterase deficiency. ( 29497639 )
2015
10
Allergic reaction to suxamethonium during emergency caesarean section and pseudocholinesterase deficiency in the same patient. ( 24958651 )
2014
11
[Residual relaxant block due to pseudocholinesterase deficiency - First manifestation in an elderly patient]. ( 24446003 )
2014
12
Butyrylcholinesterase deficiency identified by preoperative patient interview. ( 24478828 )
2013
13
Organophosphate exposure with pseudocholinesterase deficiency. ( 23738571 )
2013
14
Delayed recovery from paralysis by succinylcholine in patient with preoperatively unrecognized and inherited pseudocholinesterase deficiency. ( 24478856 )
2013
15
Pseudocholinesterase deficiency in specific populations. ( 22343611 )
2012
16
Urgent cesarean delivery and prolonged ventilatory support in a parturient with Fontan circulation and undiagnosed pseudocholinesterase deficiency. ( 22632745 )
2012
17
Rocuronium antagonized by sugammadex for series of electroconvulsive therapy (ECT) in a patient with pseudocholinesterase deficiency. ( 21206368 )
2011
18
Pseudocholinesterase deficiency in an ECT patient: a case report. ( 21777725 )
2011
19
Urgent cesarean delivery and prolonged ventilatory support in a parturient with Fontan circulation and undiagnosed pseudocholinesterase deficiency. ( 21388803 )
2011
20
Safe use of landiolol hydrochloride in a patient with marked pseudocholinesterase deficiency. ( 20155298 )
2010
21
Optimizing electroconvulsive therapy in non-suspected pseudocholinesterase deficiency: laryngeal mask use and neuromuscular selection. ( 21051690 )
2010
22
Pseudocholinesterase deficiency: a comprehensive review of genetic, acquired, and drug influences. ( 20879632 )
2010
23
The butyrylcholinesterase knockout mouse as a model for human butyrylcholinesterase deficiency. ( 18056867 )
2008
24
Pseudocholinesterase deficiency and electroconvulsive therapy. ( 17805000 )
2007
25
Prehospital airway management complicated by reported pseudocholinesterase deficiency. ( 17613911 )
2007
26
A case of pseudocholinesterase deficiency in the PACU. ( 17666297 )
2007
27
Sensitivity of butyrylcholinesterase knockout mice to (--)-huperzine A and donepezil suggests humans with butyrylcholinesterase deficiency may not tolerate these Alzheimer's disease drugs and indicates butyrylcholinesterase function in neurotransmission. ( 17194517 )
2007
28
Problem with detection of an insertion-type mutation in the BCHE gene in a patient with butyrylcholinesterase deficiency. ( 15563496 )
2004
29
Pseudocholinesterase deficiency associated with HELLP syndrome. ( 15311366 )
2004
30
Prolonged neuromuscular blockade as a result of malnutrition-induced pseudocholinesterase deficiency. ( 14984858 )
2004
31
Heterozygous pseudocholinesterase deficiency: a case report and review of the literature. ( 12856264 )
2003
32
Remifentanil's effect is not prolonged in a patient with pseudocholinesterase deficiency. ( 10439780 )
1999
33
Pseudocholinesterase deficiency: a dangerous, unrecognized complication of the ovarian hyperstimulation syndrome. ( 10370752 )
1999
34
Acquired pseudocholinesterase deficiency after high-dose cyclophosphamide. ( 10627651 )
1999
35
A case of pseudocholinesterase deficiency in the neonate. ( 10614702 )
1999
36
Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency. ( 9543549 )
1997
37
A patient with Sanfilippo syndrome and pseudocholinesterase deficiency, further complicated by post-tonsillectomy haemorrhage. ( 2496620 )
1989
38
Violent fasciculations may not signal pseudocholinesterase deficiency. ( 3994017 )
1985
39
Prolonged postoperative succinylcholine-induced apnea with pseudocholinesterase deficiency. ( 7132340 )
1982
40
Plasma pseudocholinesterase deficiency associated with diethylstilbestrol therapy. ( 569997 )
1978
41
Pseudocholinesterase deficiency: an additional preoperative consideration in outpatient diagnostic procedures. ( 877646 )
1977
42
Letter: chloroprocaine and pseudocholinesterase deficiency. ( 1173871 )
1975
43
Prolonged paralysis in pseudocholinesterase deficiency. ( 4347326 )
1973
44
Pseudocholinesterase deficiency. ( 5664914 )
1968
45
Prolonged postoperative apnea with pseudocholinesterase deficiency. ( 6039104 )
1967
46
Pseudocholinesterases. II. Two cases of pseudocholinesterase deficiency. ( 5915002 )
1966
47
LEFT-SIDED AMOEBIC LIVER ABSCESS WITH PULMONARY INVOLVEMENT, PERICARDITIS, AND PSEUDOCHOLINESTERASE DEFICIENCY. ( 14228159 )
1965
48
COMPLETE PSEUDOCHOLINESTERASE DEFICIENCY: GENETIC AND IMMUNOLOGIC CHARACTERIZATION. ( 14271308 )
1965
49
Apnoea due to suxamethonium associated with familial pseudocholinesterase deficiency. ( 14495023 )
1962
50
Suxamethonium apnoea in an infant; expression of familial pseudocholinesterase deficiency in three generations. ( 14404862 )
1960

Variations for Butyrylcholinesterase Deficiency

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

75 (show all 38)
# 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 rs892642457
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 rs979653503
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 Butyrylcholinesterase Deficiency:

6 (show top 50) (show all 173)
# 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.293A> G (p.Asp98Gly) single nucleotide variant Pathogenic/Likely pathogenic rs1799807 GRCh38 Chromosome 3, 165830741: 165830741
3 BCHE NM_000055.2(BCHE): c.435delTinsAG (p.Phe146Valfs) indel Pathogenic rs398124632 GRCh37 Chromosome 3, 165548387: 165548387
4 BCHE NM_000055.2(BCHE): c.435delTinsAG (p.Phe146Valfs) indel Pathogenic rs398124632 GRCh38 Chromosome 3, 165830599: 165830599
5 BCHE NM_000055.2(BCHE): c.1253G> T (p.Gly418Val) single nucleotide variant Conflicting interpretations of pathogenicity rs28933390 GRCh37 Chromosome 3, 165547569: 165547569
6 BCHE NM_000055.2(BCHE): c.1253G> T (p.Gly418Val) single nucleotide variant Conflicting interpretations of pathogenicity rs28933390 GRCh38 Chromosome 3, 165829781: 165829781
7 BCHE NM_000055.2(BCHE): c.1699G> A (p.Ala567Thr) single nucleotide variant Likely benign rs1803274 GRCh37 Chromosome 3, 165491280: 165491280
8 BCHE NM_000055.2(BCHE): c.1699G> A (p.Ala567Thr) single nucleotide variant Likely benign rs1803274 GRCh38 Chromosome 3, 165773492: 165773492
9 BCHE BCHE, ALU INS, EX2 insertion Pathogenic
10 BCHE NM_000055.3(BCHE): c.1072T> A (p.Leu358Ile) single nucleotide variant Uncertain significance rs121918557 GRCh37 Chromosome 3, 165547750: 165547750
11 BCHE NM_000055.3(BCHE): c.1072T> A (p.Leu358Ile) single nucleotide variant Uncertain significance rs121918557 GRCh38 Chromosome 3, 165829962: 165829962
12 BCHE NM_000055.3(BCHE): c.467A> G (p.Tyr156Cys) single nucleotide variant Pathogenic rs121918558 GRCh37 Chromosome 3, 165548355: 165548355
13 BCHE NM_000055.3(BCHE): c.467A> G (p.Tyr156Cys) single nucleotide variant Pathogenic rs121918558 GRCh38 Chromosome 3, 165830567: 165830567
14 BCHE NM_000055.3(BCHE): c.1004T> C (p.Leu335Pro) single nucleotide variant Likely pathogenic rs104893684 GRCh37 Chromosome 3, 165547818: 165547818
15 BCHE NM_000055.3(BCHE): c.1004T> C (p.Leu335Pro) single nucleotide variant Likely pathogenic rs104893684 GRCh38 Chromosome 3, 165830030: 165830030
16 BCHE BCHE*FS126 deletion Pathogenic
17 BCHE BCHE, GLY115ASP AND IVS3AS, T-C, -14 single nucleotide variant Pathogenic
18 CASK NM_003688.3(CASK): c.2377C> T (p.Gln793Ter) single nucleotide variant Pathogenic rs749742837 GRCh38 Chromosome X, 41531135: 41531135
19 CASK NM_003688.3(CASK): c.2377C> T (p.Gln793Ter) single nucleotide variant Pathogenic rs749742837 GRCh37 Chromosome X, 41390388: 41390388
20 BCHE NM_000055.3(BCHE): c.1177G> C (p.Gly393Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs115129687 GRCh37 Chromosome 3, 165547645: 165547645
21 BCHE NM_000055.3(BCHE): c.1177G> C (p.Gly393Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs115129687 GRCh38 Chromosome 3, 165829857: 165829857
22 BCHE NM_000055.3(BCHE): c.884A> G (p.Lys295Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs115624085 GRCh37 Chromosome 3, 165547938: 165547938
23 BCHE NM_000055.3(BCHE): c.884A> G (p.Lys295Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs115624085 GRCh38 Chromosome 3, 165830150: 165830150
24 BCHE NM_000055.3(BCHE): c.849G> C (p.Glu283Asp) single nucleotide variant Benign/Likely benign rs16849700 GRCh37 Chromosome 3, 165547973: 165547973
25 BCHE NM_000055.3(BCHE): c.849G> C (p.Glu283Asp) single nucleotide variant Benign/Likely benign rs16849700 GRCh38 Chromosome 3, 165830185: 165830185
26 BCHE NM_000055.3(BCHE): c.*293dupT duplication Benign rs3836432 GRCh38 Chromosome 3, 165773089: 165773089
27 BCHE NM_000055.3(BCHE): c.*293dupT duplication Benign rs3836432 GRCh37 Chromosome 3, 165490877: 165490877
28 BCHE NM_000055.3(BCHE): c.*189G> A single nucleotide variant Benign rs3495 GRCh38 Chromosome 3, 165773193: 165773193
29 BCHE NM_000055.3(BCHE): c.*189G> A single nucleotide variant Benign rs3495 GRCh37 Chromosome 3, 165490981: 165490981
30 BCHE NM_000055.3(BCHE): c.*180G> A single nucleotide variant Uncertain significance rs139885577 GRCh38 Chromosome 3, 165773202: 165773202
31 BCHE NM_000055.3(BCHE): c.*180G> A single nucleotide variant Uncertain significance rs139885577 GRCh37 Chromosome 3, 165490990: 165490990
32 BCHE NM_000055.3(BCHE): c.1770C> T (p.Asn590=) single nucleotide variant Uncertain significance rs771363401 GRCh38 Chromosome 3, 165773421: 165773421
33 BCHE NM_000055.3(BCHE): c.1770C> T (p.Asn590=) single nucleotide variant Uncertain significance rs771363401 GRCh37 Chromosome 3, 165491209: 165491209
34 BCHE NM_000055.3(BCHE): c.435_436insG (p.Phe146Valfs) insertion Uncertain significance rs774072493 GRCh38 Chromosome 3, 165830598: 165830599
35 BCHE NM_000055.3(BCHE): c.435_436insG (p.Phe146Valfs) insertion Uncertain significance rs774072493 GRCh37 Chromosome 3, 165548386: 165548387
36 BCHE NM_000055.3(BCHE): c.1736A> G (p.Asn579Ser) single nucleotide variant Uncertain significance rs750175032 GRCh38 Chromosome 3, 165773455: 165773455
37 BCHE NM_000055.3(BCHE): c.1736A> G (p.Asn579Ser) single nucleotide variant Uncertain significance rs750175032 GRCh37 Chromosome 3, 165491243: 165491243
38 BCHE NM_000055.3(BCHE): c.1327A> C (p.Asn443His) single nucleotide variant Uncertain significance rs144987429 GRCh38 Chromosome 3, 165829707: 165829707
39 BCHE NM_000055.3(BCHE): c.1327A> C (p.Asn443His) single nucleotide variant Uncertain significance rs144987429 GRCh37 Chromosome 3, 165547495: 165547495
40 BCHE NM_000055.3(BCHE): c.1178G> T (p.Gly393Val) single nucleotide variant Uncertain significance rs747438953 GRCh38 Chromosome 3, 165829856: 165829856
41 BCHE NM_000055.3(BCHE): c.1178G> T (p.Gly393Val) single nucleotide variant Uncertain significance rs747438953 GRCh37 Chromosome 3, 165547644: 165547644
42 BCHE NM_000055.3(BCHE): c.1137G> A (p.Gln379=) single nucleotide variant Uncertain significance rs372839550 GRCh38 Chromosome 3, 165829897: 165829897
43 BCHE NM_000055.3(BCHE): c.1137G> A (p.Gln379=) single nucleotide variant Uncertain significance rs372839550 GRCh37 Chromosome 3, 165547685: 165547685
44 BCHE NM_000055.3(BCHE): c.428G> A (p.Gly143Asp) single nucleotide variant Pathogenic/Likely pathogenic rs201820739 GRCh38 Chromosome 3, 165830606: 165830606
45 BCHE NM_000055.3(BCHE): c.428G> A (p.Gly143Asp) single nucleotide variant Pathogenic/Likely pathogenic rs201820739 GRCh37 Chromosome 3, 165548394: 165548394
46 BCHE NM_000055.3(BCHE): c.186A> G (p.Ala62=) single nucleotide variant Uncertain significance rs886058156 GRCh38 Chromosome 3, 165830848: 165830848
47 BCHE NM_000055.3(BCHE): c.186A> G (p.Ala62=) single nucleotide variant Uncertain significance rs886058156 GRCh37 Chromosome 3, 165548636: 165548636
48 BCHE NM_000055.3(BCHE): c.-131A> G single nucleotide variant Uncertain significance rs547400578 GRCh38 Chromosome 3, 165837436: 165837436
49 BCHE NM_000055.3(BCHE): c.-131A> G single nucleotide variant Uncertain significance rs547400578 GRCh37 Chromosome 3, 165555224: 165555224
50 BCHE NM_000055.3(BCHE): c.*285T> C single nucleotide variant Uncertain significance rs55729116 GRCh38 Chromosome 3, 165773097: 165773097

Expression for Butyrylcholinesterase Deficiency

Search GEO for disease gene expression data for Butyrylcholinesterase Deficiency.

Pathways for Butyrylcholinesterase Deficiency

GO Terms for Butyrylcholinesterase Deficiency

Cellular components related to Butyrylcholinesterase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.62 ACHE CASK

Molecular functions related to Butyrylcholinesterase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 9.26 ACHE BCHE
2 carboxylic ester hydrolase activity GO:0052689 9.16 ACHE BCHE
3 cholinesterase activity GO:0004104 8.96 ACHE BCHE
4 acetylcholinesterase activity GO:0003990 8.62 ACHE BCHE

Sources for Butyrylcholinesterase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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