BCHED
MCID: BTY001
MIFTS: 49

Butyrylcholinesterase Deficiency (BCHED)

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

Aliases & Classifications for Butyrylcholinesterase Deficiency

MalaCards integrated aliases for Butyrylcholinesterase Deficiency:

Name: Butyrylcholinesterase Deficiency 57 20 43 58 72 36 70
Pseudocholinesterase Deficiency 57 73 20 43 58 72 54 70
Suxamethonium Sensitivity 20 43 72 29 6 70
Deficiency of Butyrylcholine Esterase 43 29 6
Postanesthetic Apnea 72 29 6
Acholinesterasemia 57 72 70
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type 29 6
Succinylcholine Sensitivity 20 43
Apnea, Postanesthetic 20 70
Bched 57 72
Fluoride-Resistant Butyrylcholinesterase Deficiency Japanese Type 72
Apnea, Postanesthetic, Susceptibility to, Due to Bche Deficiency 57
Fluoride-Resistant Hypocholinesterasemia Japanese Type 72
Apnea, Postanesthetic Due to Bche Deficiency 57
Pseudocholinesterase E1 Deficiency 43
Cholinesterase Ii Deficiency 43
Cholinesterase 2 Deficiency 20
Pseudocholinesterase E1 20

Characteristics:

Orphanet epidemiological data:

58
butyrylcholinesterase deficiency
Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
decreased butyrylcholinesterase activity can be secondary to malnutrition, pregnancy, malignancy, renal disease, and liver disease


HPO:

31
butyrylcholinesterase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 617936
KEGG 36 H02432
MeSH 44 D008661
MESH via Orphanet 45 C537417
UMLS via Orphanet 71 C1283400
Orphanet 58 ORPHA132
UMLS 70 C0268379 C1283400 C1622434 more

Summaries for Butyrylcholinesterase Deficiency

MedlinePlus Genetics : 43 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.People with pseudocholinesterase deficiency may also have increased sensitivity to certain other drugs, including the local anesthetic procaine, and to specific agricultural pesticides. The condition causes no other signs or symptoms and is usually not discovered until an abnormal drug reaction occurs.

MalaCards based summary : Butyrylcholinesterase Deficiency, also known as pseudocholinesterase deficiency, is related to cyanosis, transient neonatal and ovarian hyperstimulation syndrome, 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 Glycerophospholipid biosynthesis. The drugs Pharmaceutical Solutions and Succinylcholine have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and kidney, and related phenotypes are abnormal enzyme/coenzyme activity and respiratory failure

GARD : 20 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.

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) (Updated 20-May-2021)

KEGG : 36 Hereditary Butyrylcholinesterase deficiency (BCHED) results from the mutations of BCHE gene. Butyrylcholinesterase is an ester hydrolase produced mainly by the liver, hydrolyzes certain short-acting neuromuscular blocking agents, like succinylcholine and mivacurium that are widely used during anesthesia. Patients with BCHED are possibly in danger of postanesthetic apnea.

UniProtKB/Swiss-Prot : 72 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 : 73 Pseudocholinesterase deficiency is an autosomal recessive inherited blood plasma enzyme abnormality in... more...

Related Diseases for Butyrylcholinesterase Deficiency

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



Diseases related to Butyrylcholinesterase Deficiency

Symptoms & Phenotypes for Butyrylcholinesterase Deficiency

Human phenotypes related to Butyrylcholinesterase Deficiency:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal enzyme/coenzyme activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0012379
2 respiratory failure 58 31 frequent (33%) Frequent (79-30%) HP:0002878
3 congestive heart failure 58 31 very rare (1%) Very rare (<4-1%) HP:0001635
4 myocardial infarction 58 31 very rare (1%) Very rare (<4-1%) HP:0001658
5 neoplasm 58 31 very rare (1%) Very rare (<4-1%) HP:0002664
6 abnormality of the liver 58 31 very rare (1%) Very rare (<4-1%) HP:0001392
7 respiratory failure requiring assisted ventilation 58 31 very rare (1%) Very rare (<4-1%) HP:0004887
8 paralysis 58 31 very rare (1%) Very rare (<4-1%) HP:0003470
9 chronic infection 58 31 very rare (1%) Very rare (<4-1%) HP:0031035
10 apnea 31 HP:0002104

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory Lung:
succinylcholine sensitivity
prolonged apnea 6-8 hours after administration of suxamethonium or mivacurium

Laboratory Abnormalities:
decreased plasma butyrylcholinesterase

Clinical features from OMIM®:

617936 (Updated 20-May-2021)

UMLS symptoms related to Butyrylcholinesterase Deficiency:


apnea

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-107 8.8 ACHE
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 8.8 BCHE
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 8.8 ACHE

Drugs & Therapeutics for Butyrylcholinesterase Deficiency

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 1
2
Succinylcholine Approved 306-40-1 5314
3
Nicotine Approved 54-11-5 942 89594
4 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open, Non-controlled, Non-randomised, Parallel-group Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Single Ascending Doses of AZD 8848 Administered Intranasally to Male and Female Butyrylcholinesterase Deficient Subjects and to Sex and Age Matched Controls Completed NCT01205867 Phase 1 AZD8848
2 Comparison on Succinylcholine Onset Time Assessed by Train of Four Stimulation Versus Clinical Judgment During Rapid Sequence Induction Unknown status NCT03415607
3 Transnasal Humidified Rapid-Insufflation Ventilatory Exchange (THRIVE) Could Decrease the Incidence of Oxygen Desaturation During Suspension Laryngoscopy: a Randomized Controlled Trial Unknown status NCT03843580

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 Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type 29
4 Suxamethonium Sensitivity 29

Anatomical Context for Butyrylcholinesterase Deficiency

MalaCards organs/tissues related to Butyrylcholinesterase Deficiency:

40
Liver, Heart, Kidney, Whole Blood, Ovary, Brain

Publications for Butyrylcholinesterase Deficiency

Articles related to Butyrylcholinesterase Deficiency:

(show top 50) (show all 152)
# Title Authors PMID Year
1
Review of human butyrylcholinesterase structure, function, genetic variants, history of use in the clinic, and potential therapeutic uses. 57 6
25448037 2015
2
Biochemical and genetic analysis of butyrylcholinesterase (BChE) in a family, due to prolonged neuromuscular blockade after the use of succinylcholine. 6 57
21637541 2011
3
Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India. 6 57
16788378 2006
4
Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. 57 6
12881446 2003
5
Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene. 57 6
8554068 1996
6
Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT----GGAG). 6 57
2339692 1990
7
Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase. 57 6
2915989 1989
8
On distribution and inheritance of atypical forms of human serum cholinesterase, as indicated by dibucaine numbers. 6 57
13479831 1957
9
A method for the detection of atypical forms of human serum cholinesterase; determination of dibucaine numbers. 57 6
13437188 1957
10
Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), "silent" with mivacurium. 61 57
25264279 2014
11
Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium. 61 6
25054547 2014
12
Pseudocholinesterase deficiency: a comprehensive review of genetic, acquired, and drug influences. 61 6
20879632 2010
13
Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity. 6 61
15563885 2005
14
Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency. 61 6
9543549 1997
15
Activity and polymorphisms of butyrylcholinesterase in a Polish population. 6
27109752 2016
16
Naturally Occurring Genetic Variants of Human Acetylcholinesterase and Butyrylcholinesterase and Their Potential Impact on the Risk of Toxicity from Cholinesterase Inhibitors. 6
27551784 2016
17
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
18
An Indian butyrylcholinesterase variant L307P is not structurally stable: a molecular dynamics simulation study. 6
23123771 2013
19
Why has butyrylcholinesterase been retained? Structural and functional diversification in a duplicated gene. 6
22750491 2012
20
A patient with prolonged paralysis. 6
22378569 2012
21
Prolonged apnea during electroconvulsive therapy in monozygotic twins: case reports. 6
22053728 2011
22
Concordance of butyrylcholinesterase phenotype with genotype: implications for biochemical reporting. 6
21228368 2011
23
Butyrylcholinesterase gene mutations in patients with prolonged apnea after succinylcholine for electroconvulsive therapy. 6
21029050 2011
24
Two new mutations of the human BCHE gene (IVS3-14T>C and L574fsX576). 6
18555211 2008
25
Five new naturally occurring mutations of the BCHE gene and frequencies of 12 butyrylcholinesterase alleles in a Brazilian population. 6
18300943 2008
26
Rapid and accurate detection of atypical and Kalow variants in the butyrylcholinesterase gene using denaturing high performance liquid chromatography. 6
18165570 2008
27
Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia. 6
18075469 2007
28
Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene. 6
17166756 2007
29
A mutation linked with autism reveals a common mechanism of endoplasmic reticulum retention for the alpha,beta-hydrolase fold protein family. 6
16434405 2006
30
Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample. 6
15781196 2005
31
Genotyping the butyrylcholinesterase in patients with prolonged neuromuscular block after succinylcholine. 6
15731589 2005
32
Frequency of butyrylcholinesterase gene mutations in individuals with abnormal inhibition numbers: an Italian-population study. 6
12724618 2003
33
Inheritance and drug response. 57
12571261 2003
34
Pharmacogenomics--drug disposition, drug targets, and side effects. 57
12571262 2003
35
Novel mutation and multiple mutations found in the human butyrylcholinesterase gene. 6
12417112 2002
36
Response to mivacurium in a patient compound heterozygous for a novel and a known silent mutation in the butyrylcholinesterase gene: genotyping by sequencing. 6
11575530 2001
37
Identification of missense mutation (G365R) of the butyrylcholinesterase (BCHE) gene in a Japanese patient with familial cholinesterasemia. 6
11733654 2001
38
Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping. 6
11163024 2001
39
Interaction between the peripheral site residues of human butyrylcholinesterase, D70 and Y332, in binding and hydrolysis of substrates. 6
10446378 1999
40
Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure. 6
10404729 1999
41
Human butyrylcholinesterase L330I mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells. 6
9388484 1997
42
Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan. 6
9191541 1997
43
Nonsense mutation in exon 2 of the butyrylcholinesterase gene: a case of familial cholinesterasemia. 6
9187502 1997
44
Role of aspartate 70 and tryptophan 82 in binding of succinyldithiocholine to human butyrylcholinesterase. 6
9047329 1997
45
Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase. 6
9110359 1997
46
Familial hypocholinesterasemia found in a family and a new confirmed mutation. 6
9058093 1997
47
Three different point mutations in the butyrylcholinesterase gene of three Japanese subjects with a silent phenotype: possible Japanese type alleles. 6
8601326 1996
48
Prolonged response to succinylcholine: a new variant of plasma cholinesterase that is identified as normal by traditional phenotyping methods. 6
7618741 1995
49
Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes. 6
7634491 1995
50
Cholinesterase variants: rapid characterisation by PCR/SSCP and evidence for molecular homogeneity. 6
7760318 1995

Variations for Butyrylcholinesterase Deficiency

ClinVar genetic disease variations for Butyrylcholinesterase Deficiency:

6 (show top 50) (show all 113)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BCHE NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) SNV Pathogenic 13215 rs1799807 GRCh37: 3:165548529-165548529
GRCh38: 3:165830741-165830741
2 BCHE NM_000055.2(BCHE):c.435delTinsAG (p.Phe146Valfs) Indel Pathogenic 13216 rs398124632 GRCh37: 3:165548387-165548387
GRCh38: 3:165830599-165830599
3 BCHE BCHE, ALU INS, EX2 Insertion Pathogenic 13225 GRCh37:
GRCh38:
4 BCHE NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile) SNV Pathogenic 13226 rs121918557 GRCh37: 3:165547750-165547750
GRCh38: 3:165829962-165829962
5 BCHE NM_000055.4(BCHE):c.467A>G (p.Tyr156Cys) SNV Pathogenic 13227 rs121918558 GRCh37: 3:165548355-165548355
GRCh38: 3:165830567-165830567
6 BCHE BCHE*FS126 Deletion Pathogenic 13229 GRCh37:
GRCh38:
7 BCHE BCHE, GLY115ASP AND IVS3AS, T-C, -14 SNV Pathogenic 13230 GRCh37:
GRCh38:
8 BCHE NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) SNV Pathogenic/Likely pathogenic 13215 rs1799807 GRCh37: 3:165548529-165548529
GRCh38: 3:165830741-165830741
9 BCHE NM_000055.4(BCHE):c.428G>A (p.Gly143Asp) SNV Pathogenic/Likely pathogenic 344097 rs201820739 GRCh37: 3:165548394-165548394
GRCh38: 3:165830606-165830606
10 BCHE NM_000055.4(BCHE):c.662del (p.Thr221fs) Deletion Likely pathogenic 550242 rs1553778185 GRCh37: 3:165548160-165548160
GRCh38: 3:165830372-165830372
11 BCHE NM_000055.4(BCHE):c.149del (p.Gly50fs) Deletion Likely pathogenic 550337 rs762189020 GRCh37: 3:165548673-165548673
GRCh38: 3:165830885-165830885
12 BCHE NM_000055.4(BCHE):c.44G>A (p.Trp15Ter) SNV Likely pathogenic 551225 rs1553778291 GRCh37: 3:165548778-165548778
GRCh38: 3:165830990-165830990
13 BCHE NM_000055.4(BCHE):c.1240C>T (p.Arg414Cys) SNV Likely pathogenic 551265 rs745364489 GRCh37: 3:165547582-165547582
GRCh38: 3:165829794-165829794
14 BCHE NM_000055.4(BCHE):c.1030C>T (p.Gln344Ter) SNV Likely pathogenic 551274 rs1553778114 GRCh37: 3:165547792-165547792
GRCh38: 3:165830004-165830004
15 BCHE NM_000055.4(BCHE):c.1372dup (p.Trp458fs) Duplication Likely pathogenic 550130 rs1553778044 GRCh37: 3:165547449-165547450
GRCh38: 3:165829661-165829662
16 BCHE NM_000055.4(BCHE):c.1627C>T (p.Arg543Cys) SNV Likely pathogenic 551540 rs199660374 GRCh37: 3:165503990-165503990
GRCh38: 3:165786202-165786202
17 BCHE NM_000055.4(BCHE):c.1222C>T (p.Gln408Ter) SNV Likely pathogenic 551943 rs1278095773 GRCh37: 3:165547600-165547600
GRCh38: 3:165829812-165829812
18 BCHE NM_000055.4(BCHE):c.382C>T (p.Pro128Ser) SNV Likely pathogenic 552544 rs3732880 GRCh37: 3:165548440-165548440
GRCh38: 3:165830652-165830652
19 BCHE NM_000055.4(BCHE):c.295C>T (p.Gln99Ter) SNV Likely pathogenic 552857 rs990121358 GRCh37: 3:165548527-165548527
GRCh38: 3:165830739-165830739
20 BCHE NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro) SNV Likely pathogenic 13228 rs104893684 GRCh37: 3:165547818-165547818
GRCh38: 3:165830030-165830030
21 BCHE NM_000055.4(BCHE):c.1284C>A (p.Cys428Ter) SNV Likely pathogenic 371014 rs762341786 GRCh37: 3:165547538-165547538
GRCh38: 3:165829750-165829750
22 BCHE NM_000055.4(BCHE):c.206_207del (p.Leu69fs) Deletion Likely pathogenic 370809 rs1057516784 GRCh37: 3:165548615-165548616
GRCh38: 3:165830827-165830828
23 BCHE NM_000055.4(BCHE):c.895G>T (p.Glu299Ter) SNV Likely pathogenic 370346 rs747196387 GRCh37: 3:165547927-165547927
GRCh38: 3:165830139-165830139
24 BCHE NM_000055.4(BCHE):c.439C>T (p.Gln147Ter) SNV Likely pathogenic 371104 rs760182781 GRCh37: 3:165548383-165548383
GRCh38: 3:165830595-165830595
25 BCHE NM_000055.4(BCHE):c.1183G>T (p.Glu395Ter) SNV Likely pathogenic 371372 rs1057517221 GRCh37: 3:165547639-165547639
GRCh38: 3:165829851-165829851
26 BCHE NM_000055.4(BCHE):c.495_498del (p.Arg166fs) Deletion Likely pathogenic 370518 rs772259613 GRCh37: 3:165548324-165548327
GRCh38: 3:165830536-165830539
27 BCHE NM_000055.4(BCHE):c.1528G>T (p.Glu510Ter) SNV Likely pathogenic 370431 rs1057516482 GRCh37: 3:165504089-165504089
GRCh38: 3:165786301-165786301
28 BCHE NM_000055.4(BCHE):c.493del (p.Glu165fs) Deletion Likely pathogenic 370709 rs1057516707 GRCh37: 3:165548329-165548329
GRCh38: 3:165830541-165830541
29 BCHE NM_000055.4(BCHE):c.1517+1G>T SNV Likely pathogenic 371367 rs1057517218 GRCh37: 3:165547304-165547304
GRCh38: 3:165829516-165829516
30 BCHE NM_000055.4(BCHE):c.1073dup (p.Leu358fs) Duplication Likely pathogenic 370388 rs1057516450 GRCh37: 3:165547748-165547749
GRCh38: 3:165829960-165829961
31 BCHE NM_000055.4(BCHE):c.662_663CT[2] (p.Phe223fs) Microsatellite Likely pathogenic 370179 rs747983616 GRCh37: 3:165548155-165548156
GRCh38: 3:165830367-165830368
32 BCHE NM_000055.4(BCHE):c.793del (p.Tyr265fs) Deletion Likely pathogenic 370364 rs778568717 GRCh37: 3:165548029-165548029
GRCh38: 3:165830241-165830241
33 BCHE NM_000055.4(BCHE):c.1684+1G>T SNV Likely pathogenic 370446 rs1057516496 GRCh37: 3:165503932-165503932
GRCh38: 3:165786144-165786144
34 BCHE NM_000055.4(BCHE):c.1576C>T (p.Gln526Ter) SNV Likely pathogenic 371275 rs1057517144 GRCh37: 3:165504041-165504041
GRCh38: 3:165786253-165786253
35 BCHE NM_000055.4(BCHE):c.757G>T (p.Gly253Ter) SNV Likely pathogenic 371455 rs140080572 GRCh37: 3:165548065-165548065
GRCh38: 3:165830277-165830277
36 BCHE NM_000055.4(BCHE):c.1027dup (p.Thr343fs) Duplication Likely pathogenic 370302 rs754214624 GRCh37: 3:165547794-165547795
GRCh38: 3:165830006-165830007
37 BCHE NM_000055.4(BCHE):c.1240del (p.Arg414fs) Deletion Likely pathogenic 371460 rs1057517288 GRCh37: 3:165547582-165547582
GRCh38: 3:165829794-165829794
38 BCHE NM_000055.4(BCHE):c.1015C>T (p.Gln339Ter) SNV Likely pathogenic 371431 rs1057517265 GRCh37: 3:165547807-165547807
GRCh38: 3:165830019-165830019
39 BCHE NM_000055.4(BCHE):c.110del (p.Lys37fs) Deletion Likely pathogenic 371648 rs1057517439 GRCh37: 3:165548712-165548712
GRCh38: 3:165830924-165830924
40 BCHE NM_000055.4(BCHE):c.635C>T (p.Ala212Val) SNV Likely pathogenic 370854 rs114706984 GRCh37: 3:165548187-165548187
GRCh38: 3:165830399-165830399
41 BCHE NM_000055.4(BCHE):c.619C>T (p.Gln207Ter) SNV Likely pathogenic 371356 rs1057517208 GRCh37: 3:165548203-165548203
GRCh38: 3:165830415-165830415
42 BCHE NM_000055.4(BCHE):c.1685-2A>G SNV Likely pathogenic 370447 rs779366544 GRCh37: 3:165491296-165491296
GRCh38: 3:165773508-165773508
43 BCHE NM_000055.2(BCHE):c.812C>T (p.Thr271Met) SNV Likely pathogenic 13218 rs28933389 GRCh37: 3:165548010-165548010
GRCh38: 3:165830222-165830222
44 BCHE NM_000055.4(BCHE):c.687del (p.Ala230fs) Deletion Likely pathogenic 554455 rs1553778179 GRCh37: 3:165548135-165548135
GRCh38: 3:165830347-165830347
45 BCHE NM_000055.4(BCHE):c.615G>A (p.Trp205Ter) SNV Likely pathogenic 555805 rs568724445 GRCh37: 3:165548207-165548207
GRCh38: 3:165830419-165830419
46 BCHE NM_000055.4(BCHE):c.611del (p.Gln204fs) Deletion Likely pathogenic 558107 rs1553778198 GRCh37: 3:165548211-165548211
GRCh38: 3:165830423-165830423
47 BCHE NM_000055.4(BCHE):c.1497G>A (p.Trp499Ter) SNV Likely pathogenic 555018 rs1553778017 GRCh37: 3:165547325-165547325
GRCh38: 3:165829537-165829537
48 BCHE NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter) SNV Conflicting interpretations of pathogenicity 555346 rs760485585 GRCh37: 3:165504033-165504033
GRCh38: 3:165786245-165786245
49 BCHE NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile) SNV Conflicting interpretations of pathogenicity 13226 rs121918557 GRCh37: 3:165547750-165547750
GRCh38: 3:165829962-165829962
50 BCHE NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg) SNV Conflicting interpretations of pathogenicity 225301 rs115129687 GRCh37: 3:165547645-165547645
GRCh38: 3:165829857-165829857

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

72 (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 rs133912858
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 rs155377827

Expression for Butyrylcholinesterase Deficiency

Search GEO for disease gene expression data for Butyrylcholinesterase Deficiency.

Pathways for Butyrylcholinesterase Deficiency

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 BCHE ACHE
2
Show member pathways
11.99 BCHE ACHE
3
Show member pathways
11.42 BCHE ACHE
4 10.4 BCHE ACHE
5
Show member pathways
10.04 BCHE ACHE

GO Terms for Butyrylcholinesterase Deficiency

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 BCHE ACHE
2 carboxylic ester hydrolase activity GO:0052689 9.16 BCHE ACHE
3 cholinesterase activity GO:0004104 8.96 BCHE ACHE
4 acetylcholinesterase activity GO:0003990 8.62 BCHE ACHE

Sources for Butyrylcholinesterase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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