CHAT

Summary

CHAT (choline O-acetyltransferase, HGNC:1912) is a protein-coding gene on chromosome 10q11.23, encoding Choline O-acetyltransferase (P28329). Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.

This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer’s disease. Polymorphisms in this gene have been associated with Alzheimer’s disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform.

Source: NCBI Gene 1103 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital myasthenic syndrome 6 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 5
• Clinical variants (ClinVar): 1,358 total — 41 pathogenic, 52 likely-pathogenic
• Phenotypes (HPO): 79
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_020549

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1912
Approved symbol	CHAT
Name	choline O-acetyltransferase
Location	10q11.23
Locus type	gene with protein product
Status	Approved
Aliases	CHOACTase
Ensembl gene	ENSG00000070748
Ensembl biotype	protein_coding
OMIM	118490
Entrez	1103

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 6 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000337653, ENST00000339797, ENST00000351556, ENST00000395559, ENST00000395562, ENST00000460699, ENST00000466590, ENST00000481336, ENST00000490270, ENST00000638282, ENST00000638683, ENST00000640822

RefSeq mRNA: 7 — MANE Select: NM_020549 NM_001142929, NM_001142933, NM_001142934, NM_020549, NM_020984, NM_020985, NM_020986

CCDS: CCDS44389, CCDS7232, CCDS7233

Canonical transcript exons

ENST00000337653 — 15 exons

Exon	Start	End
ENSE00003458689	49649508	49649636
ENSE00003500489	49662645	49662782
ENSE00003528043	49655095	49655236
ENSE00003538995	49655386	49655448
ENSE00003543422	49646505	49646674
ENSE00003594735	49622097	49622150
ENSE00003610924	49620495	49620613
ENSE00003612109	49616502	49616602
ENSE00003626362	49627608	49627785
ENSE00003632358	49614037	49614475
ENSE00003634518	49619725	49619916
ENSE00003655876	49651884	49652006
ENSE00003674187	49625473	49625653
ENSE00003674888	49648507	49648607
ENSE00003898923	49664777	49667942

Expression profiles

Bgee: expression breadth broad, 68 present calls, max score 80.88.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0870 / max 61.9268, expressed in 6 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
104894	0.0870	6

Top tissues by expression

256 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.88	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.64	gold quality
putamen	UBERON:0001874	65.27	gold quality
mucosa of transverse colon	UBERON:0004991	64.09	gold quality
caudate nucleus	UBERON:0001873	62.83	gold quality
cortical plate	UBERON:0005343	59.82	gold quality
tibialis anterior	UBERON:0001385	57.31	silver quality
nucleus accumbens	UBERON:0001882	56.54	gold quality
placenta	UBERON:0001987	54.88	gold quality
oviduct epithelium	UBERON:0004804	54.16	gold quality
transverse colon	UBERON:0001157	52.63	gold quality
deltoid	UBERON:0001476	52.32	gold quality
buccal mucosa cell	CL:0002336	51.84	gold quality
colonic epithelium	UBERON:0000397	51.62	gold quality
quadriceps femoris	UBERON:0001377	50.84	gold quality
vastus lateralis	UBERON:0001379	49.94	gold quality
ileal mucosa	UBERON:0000331	49.71	silver quality
small intestine	UBERON:0002108	49.44	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
hair follicle	UBERON:0002073	49.18	gold quality
duodenum	UBERON:0002114	49.18	gold quality
small intestine Peyer’s patch	UBERON:0003454	48.99	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
myocardium	UBERON:0002349	48.87	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality
left ventricle myocardium	UBERON:0006566	48.24	gold quality
orbitofrontal cortex	UBERON:0004167	48.20	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.91

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPB, ELK3, ESR1, ESR2, HAND2, MYB, REST, RXRA, SATB2, STAT1, STAT3, TFAP2A

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Results suggest that c-Myb and C/EBPbeta act synergistically to increase choline acetyltransferase gene transcription in the nervous system. (PMID:12393272)
• A G-to-A polymorphism detected in the first coding exon of the ChAT sequence may result in attenuated translation efficiency of ChAT mRNA and confer an increased risk for deterioration of memory and cognition functions in Alzheimer’s disease. (PMID:12401548)
• we identified a novel missense mutation (I336T) in the CHAT gene homozygously in all three patients. Haplotype analysis revealed that the mutant allele cosegregates with the clinical phenotype in both families. (PMID:12609506)
• the wide existence of ChAT in human endothelial cells (PMID:12628465)
• identification of a novel nuclear localization signal common to 69- and 82-kDa isoforms (PMID:12637523)
• Levels of linkage disequilibrium were generally low across the CHAT locus but two of the coding variants, D7N and A120T, proved to be in complete linkage disequilibrium (late-onset Alzheimer disease). (PMID:12759818)
• previously identified polymorphism in choline acetyltransferase is not associated with Alzheimer’s disease (PMID:12770689)
• Choline acetyltransferase neurons in the human parietal neocortex, strongly supports the existence of intrinsic cholinergic innervation of the human neocortex (PMID:14514417)
• ChAT is differentially phosphorylated by protein kinase C isoforms on four serines (Ser-440, Ser-346, Ser-347, and Ser-476) and one threonine (Thr-255) (PMID:15381704)
• These findings show that significant thalamic presynaptic cholinergic deficits occur only in cases of combined cortical and subcortical neurodegeneration in which dementia developed after prolonged parkinsonism. (PMID:15913843)
• one SNP, rs733722, in a promoter region of CHAT, is associated with response of AD patients to cholinesterase inhibitors (PMID:16424819)
• No relationship between pattern of cholinergic deficits and distribution pattern of lesions in amygdala of patients with Alzheimer’s disease or dementia with Lewy bodies. (PMID:16468020)
• There is considerable effect of the ChAT polymorphisms on Alzheimer’s disease in Korean population and this effect is dependent on apolipoprotein E genotypes (PMID:16480703)
• Structure of human ChAT to a resolution of 2.2 A along with structures for binary complexes of ChAT with choline, coenzyme A and a nonhydrolyzable acetyl-CoA analogue. (PMID:17144655)
• This multiplex PCR technique can be carried out in a single tube and can differentiate between the three polymorphic sites of this gene associated with Alzheimer’s disease. (PMID:17378730)
• ChAT, polymorphisms do not constitute a major genetic risk factor for susceptibility to Alzheimer’s disease in a Sardinian population. (PMID:17503475)
• findings tentatively implicate a genetic influence of ChAt in the disorder’s susceptibility. (PMID:17503482)
• From a panel of 59 single-nucleotide polymorphisms (SNPs) located on 11 candidate genes, we identify four SNPs (one each on CHRNA5 and CHRNA2 and two on CHAT) that appear to have pharmacogenetic relevance in smokin cessation therapy. (PMID:18165968)
• Alzheimer’s disease nucleus basalis forebrain neurons, hyperinnervated by galanin, displays a significant upregulation in choline acetyltransferase. (PMID:18322398)
• These results indicate that basal forebrain cholinergic neuron abnormalities are present very early in aging and in the course of Alzheimer disease. (PMID:18379437)
• Upregulation of choline acetyltransferase is associated with squamous cell lung carcinoma (PMID:18559515)
• ChAT 2384 A allele is a risk factor for Alzheimer’s disease and mild cognition disorder (PMID:18562794)
• Data shows that the ChAT polymorphism is associated significant to the combination AD and/or depression. (PMID:18603262)
• SNPs of AChE, BChE, and ChAT genes do not seem to play a relevant role in the response to treatment with the two cholinesterase inhibitors donepezil and rivastigmine. (PMID:18780301)
• Data suggest that neither the co-existence nor the co-absence of choline acetyltransferase and neuronal nitric oxide synthase in human myenteric neurons is indicative for particular neuron types. (PMID:19711100)
• There was no relationship between ChAT activity and cognition in the vascular dementia patients (PMID:19776575)
• the acquisition of neurotransmitter phenotype is epigenetically, at least the hyper-acetylation on the core promoter region of ChAT gene, regulated in NG108-15 neuronal cells (PMID:20100532)
• Although the effect sizes in both cohorts are modest, converging data across cohorts and phenotypes suggest that ChAT may be involved in nicotine dependence and ability to quit smoking. (PMID:20147892)
• Replication and association of CHAT with nicotine dependence in European and African American smokers are reported. (PMID:20383528)
• residues M84, Y436, and Y552 play a critical role in binding and holding the choline substrate in the ChAT active site. (PMID:20560540)
• overexpressed ChAT enhanced transcription of the CHT1 gene but not the VACHT gene (PMID:21163949)
• [review] The peripheral type of ChAT appears to be a reliable marker for the visualization of peripheral cholinergic neurons and their processes, whereas other conventional markers including the common ChAT have not been used successfully for it. (PMID:21382474)
• The data of this study did not seem to support a major role for CHAT genetic variation in geriatric depression and Alzheimer’s disease , there might be a minor contribution in geriatric patients with depression. (PMID:21507424)
• The CHAT A/A genotype was associated with earlier onset of Alzheimer disease. (PMID:21602657)
• Multiple sclerosis hippocampus, activity and protein expression of choline acetyltransferase (ChAT), the acetylcholine synthesizing enzyme, was decreased, while the activity and protein expression of acetylcholinesterase (PMID:21691765)
• the functional consequences of 12 missense and one nonsense mutations of CHAT in 11 patients. ( choline acetyltransferase) (PMID:21786365)
• The ChAT rs3810950 A allele was found to be associated with a decrease cognitive status evaluated by a five-component cognitive composite score (PMID:21883924)
• Multiple abnormalities with intellectual and developmental disability result from recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3. (PMID:21948486)
• Data from transgenic mice expressing human CHAT in brain neurons suggest that CHAT is important in maintaining memory and learning throughout life. (PMID:22449376)
• There were CHAT mRNA reactions in the synovial lining layer in patients with rheumatoid arthritis and osteoarthritis. (PMID:22483691)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	chata	ENSDARG00000015854
mus_musculus	Chat	ENSMUSG00000021919
rattus_norvegicus	Chat	ENSRNOG00000025012
drosophila_melanogaster	ChAT	FBGN0000303
caenorhabditis_elegans		WBGENE00000481

Paralogs (6): CROT (ENSG00000005469), CRAT (ENSG00000095321), CPT1A (ENSG00000110090), CPT2 (ENSG00000157184), CPT1C (ENSG00000169169), CPT1B (ENSG00000205560)

Protein

Protein identifiers

Choline O-acetyltransferase — P28329 (reviewed: P28329)

All UniProt accessions (4): P28329, A0A1W2PP46, A0A1W2PRG4, R4GN13

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.

Disease relevance. Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210] A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS6 affected individuals have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement. CMS6 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the carnitine/choline acetyltransferase family.

Isoforms (3)

UniProt ID	Names	Canonical?
P28329-1	M, 83 kDa	yes
P28329-2	S, 74 kDa
P28329-3	R, 70 kDa

RefSeq proteins (7): NP_001136401, NP_001136405, NP_001136406, NP_065574, NP_066264, NP_066265, NP_066266 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000542	Carn_acyl_trans	Family
IPR023213	CAT-like_dom_sf	Homologous_superfamily
IPR039551	Cho/carn_acyl_trans_1_2	Domain
IPR042231	Cho/carn_acyl_trans_2	Homologous_superfamily

Pfam: PF00755

Enzyme classification (BRENDA):

• EC 2.3.1.6 — choline O-acetyltransferase (BRENDA: 66 organisms, 20 substrates, 91 inhibitors, 62 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ACETYL-COA	0.002–5	16
CHOLINE	0.192–128	16
ACETYLCHOLINE	0.0004–2.7	10
COA	0.0003–0.04	10
CARNITINE	4.8–100	4

Catalyzed reactions (Rhea), 1 shown:

• choline + acetyl-CoA = acetylcholine + CoA (RHEA:18821)

UniProt features (90 total): helix 25, strand 19, sequence variant 18, sequence conflict 8, compositionally biased region 5, turn 4, binding site 3, region of interest 2, modified residue 2, splice variant 2, chain 1, active site 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
9F85	X-RAY DIFFRACTION	1.6
9RT3	X-RAY DIFFRACTION	1.8
9F84	X-RAY DIFFRACTION	1.9
2FY2	X-RAY DIFFRACTION	2.25
7AMD	X-RAY DIFFRACTION	2.25
2FY3	X-RAY DIFFRACTION	2.27
2FY4	X-RAY DIFFRACTION	2.3
2FY5	X-RAY DIFFRACTION	2.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P28329-F1	84.73	0.75

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 442 (proton acceptor)

Ligand- & substrate-binding residues (3): 558; 659; 520–532

Post-translational modifications (2): 125, 473

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-1483191	Synthesis of PC
R-HSA-264642	Acetylcholine Neurotransmitter Release Cycle

MSigDB gene sets: 267 (showing top): GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_BIOSYNTHETIC_PROCESS, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, CAGCTG_AP4_Q5, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, SP1_Q2_01, GOBP_CELL_CELL_SIGNALING, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS

GO Biological Process (4): phosphatidylcholine biosynthetic process (GO:0006656), neurotransmitter transport (GO:0006836), neuromuscular synaptic transmission (GO:0007274), acetylcholine biosynthetic process (GO:0008292)

GO Molecular Function (4): choline O-acetyltransferase activity (GO:0004102), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)

GO Cellular Component (5): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), neuron projection (GO:0043005), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Glycerophospholipid biosynthesis	1
Neurotransmitter release cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
phosphatidylcholine metabolic process	1
glycerophospholipid biosynthetic process	1
transport	1
chemical synaptic transmission	1
acetylcholine metabolic process	1
biosynthetic process	1
O-acetyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
plasma membrane bounded cell projection	1
cell junction	1

Protein interactions and networks

STRING

1722 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CHAT	SLC18A3	Q16572	980
CHAT	ACHE	P22303	933
CHAT	TH	P07101	881
CHAT	BCHE	P06276	871
CHAT	KIFAP3	Q92845	833
CHAT	TAC1	P20366	822
CHAT	CHRNA9	Q9UGM1	792
CHAT	NGF	P01138	773
CHAT	PVALB	P20472	772
CHAT	DBH	P09172	764
CHAT	CHRNA10	Q9GZZ6	763
CHAT	CALB2	P22676	761
CHAT	NOS1	P29475	757
CHAT	SLC5A7	Q9GZV3	749
CHAT	GFAP	P14136	743

IntAct

6 interactions, top by confidence:

A	B	Type	Score
	CHAT	psi-mi:“MI:0414”(enzymatic reaction)	0.440
	APP	psi-mi:“MI:0414”(enzymatic reaction)	0.440
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
VCP	SHTN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (15): ACAA2 (Co-fractionation), RARS (Co-fractionation), VWFP1 (Affinity Capture-MS), VWFP1 (Affinity Capture-Western), CHAT (Affinity Capture-Western), HSPA4 (Affinity Capture-Western), HSPA4 (Proximity Label-MS), HSP90AA1 (Proximity Label-MS), HSP90AA1 (Affinity Capture-Western), HSPA4 (Co-localization), HSP90AA1 (Co-localization), STUB1 (Affinity Capture-Western), STUB1 (Co-localization), CHAT (Cross-Linking-MS (XL-MS)), CHAT (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A2RTX5, A2Z8S0, B2ZGJ1, F1LN46, O19094, P07668, P11035, P11466, P13222, P17569, P18886, P23786, P28329, P32198, P32738, P32756, P32796, P36859, P43155, P47934, P49696, P50416, P52825, P52826, P56523, P80235, P97742, Q03059, Q0V9S0, Q2KJB7, Q58DK1, Q5U3U3, Q60HG9, Q63704, Q68Y62, Q6P4X5, Q704S8, Q75G68, Q7ZXE1, Q80VY9

Diamond homologs: B2ZGJ1, O19094, P07668, P11466, P13222, P28329, P32738, P32756, P32796, P43155, P47934, P52826, Q03059, Q704S8, Q90YJ9, Q9DC50, F1LN46, P32198, P50416, P97742, Q58DK1, Q60HG9, Q63704, Q68Y62, Q8BGD5, Q8HY46, Q8TCG5, Q924X2, Q92523, P52825, Q9UKG9, P23786, Q2KJB7, Q5U3U3, Q00614, P18886, Q6P4X5, Q7ZXE1, P80235

SIGNOR signaling

26 interactions.

A	Effect	B	Mechanism
PRKCA	up-regulates	CHAT	phosphorylation
PRKCB	up-regulates	CHAT	phosphorylation
PRKCE	up-regulates	CHAT	phosphorylation
PRKCG	up-regulates	CHAT	phosphorylation
PRKCZ	up-regulates	CHAT	phosphorylation
PRKCD	“up-regulates quantity”	CHAT	phosphorylation
CAMK2A	up-regulates	CHAT	phosphorylation
CAMK2G	“up-regulates activity”	CHAT	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

1358 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	41
Likely pathogenic	52
Uncertain significance	498
Likely benign	585
Benign	92

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1073040	NM_020549.5(CHAT):c.951del (p.Val318fs)	Pathogenic
1073926	NM_020549.5(CHAT):c.1909G>T (p.Glu637Ter)	Pathogenic
1322074	NM_020549.5(CHAT):c.1408C>T (p.Arg470Ter)	Pathogenic
1451989	NM_020549.5(CHAT):c.1620dup (p.Leu541fs)	Pathogenic
1460078	NC_000010.10:g.(?50821083)(50874150_?)del	Pathogenic
1487028	NM_020549.5(CHAT):c.1896_1918del (p.Ala633fs)	Pathogenic
17506	NM_020549.5(CHAT):c.631C>G (p.Pro211Ala)	Pathogenic
17513	NM_020549.5(CHAT):c.914T>C (p.Ile305Thr)	Pathogenic
1805033	NM_020549.5(CHAT):c.1444dup (p.Arg482fs)	Pathogenic
196498	NM_020549.5(CHAT):c.418C>T (p.Gln140Ter)	Pathogenic
2136861	NM_020549.5(CHAT):c.1262G>C (p.Trp421Ser)	Pathogenic
2136862	NM_020549.5(CHAT):c.1891G>A (p.Ala631Thr)	Pathogenic
2426565	NC_000010.10:g.(?50856533)(50857702_?)del	Pathogenic
2728783	NM_020549.5(CHAT):c.619del (p.Arg207fs)	Pathogenic
2733909	NM_020549.5(CHAT):c.1455G>A (p.Trp485Ter)	Pathogenic
2760853	NM_020549.5(CHAT):c.1058_1061dup (p.Ser355fs)	Pathogenic
2761877	NM_020549.5(CHAT):c.1438_1444del (p.Pro480fs)	Pathogenic
2764116	NM_020549.5(CHAT):c.1897del (p.Ala633fs)	Pathogenic
2784177	NM_020549.5(CHAT):c.1542T>A (p.Tyr514Ter)	Pathogenic
2787607	NM_020549.5(CHAT):c.1441del (p.Arg481fs)	Pathogenic
2826685	NM_020549.5(CHAT):c.1110_1111delAG (p.Asp371fs)	Pathogenic
2838355	NM_020549.5(CHAT):c.1435del (p.Ala479fs)	Pathogenic
2838442	NM_020549.5(CHAT):c.1263G>A (p.Trp421Ter)	Pathogenic
2840480	NM_020549.5(CHAT):c.1539_1542del (p.Tyr514fs)	Pathogenic
2852585	NM_020549.5(CHAT):c.1905C>A (p.Cys635Ter)	Pathogenic
286608	NM_020549.5(CHAT):c.85A>T (p.Arg29Ter)	Pathogenic
2884566	NM_020549.5(CHAT):c.1641_1642delinsCT (p.Arg548Ter)	Pathogenic
2971616	NM_020549.5(CHAT):c.880_884del (p.Asn294fs)	Pathogenic
3244827	NC_000010.10:g.(?50872803)(50873092_?)del	Pathogenic
3244829	NC_000010.10:g.(?50854637)(50864625_?)del	Pathogenic

SpliceAI

2534 predictions. Top by Δscore:

Variant	Effect	Δscore
10:49616497:CCCA:C	acceptor_loss	1.0000
10:49616498:CCAG:C	acceptor_loss	1.0000
10:49616499:CA:C	acceptor_loss	1.0000
10:49616500:A:AG	acceptor_gain	1.0000
10:49616501:G:A	acceptor_loss	1.0000
10:49616501:G:GG	acceptor_gain	1.0000
10:49616589:GCA:G	donor_gain	1.0000
10:49616592:G:GG	donor_gain	1.0000
10:49616599:GTCT:G	donor_gain	1.0000
10:49616603:G:GG	donor_gain	1.0000
10:49618971:G:GT	donor_gain	1.0000
10:49619722:CAGGG:C	acceptor_loss	1.0000
10:49619723:AG:A	acceptor_gain	1.0000
10:49619724:GG:G	acceptor_gain	1.0000
10:49619915:GG:G	donor_gain	1.0000
10:49619916:GG:G	donor_gain	1.0000
10:49619917:G:GA	donor_loss	1.0000
10:49619918:T:G	donor_loss	1.0000
10:49620490:GGCA:G	acceptor_loss	1.0000
10:49620491:GCA:G	acceptor_loss	1.0000
10:49620493:A:C	acceptor_loss	1.0000
10:49620494:G:GA	acceptor_loss	1.0000
10:49620494:GGT:G	acceptor_gain	1.0000
10:49620609:C:G	donor_gain	1.0000
10:49620610:TGAGG:T	donor_loss	1.0000
10:49620611:GAG:G	donor_gain	1.0000
10:49620612:AGGT:A	donor_loss	1.0000
10:49620613:GGTG:G	donor_loss	1.0000
10:49620614:G:GG	donor_gain	1.0000
10:49620615:T:A	donor_loss	1.0000

AlphaMissense

4888 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:49649578:T:A	W485R	1.000
10:49649578:T:C	W485R	1.000
10:49620558:A:C	S215R	0.999
10:49620560:C:A	S215R	0.999
10:49620560:C:G	S215R	0.999
10:49627611:T:C	F313L	0.999
10:49627613:T:A	F313L	0.999
10:49627613:T:G	F313L	0.999
10:49627747:G:T	R358M	0.999
10:49627755:T:A	W361R	0.999
10:49627755:T:C	W361R	0.999
10:49646515:C:A	N374K	0.999
10:49646515:C:G	N374K	0.999
10:49646654:T:A	W421R	0.999
10:49646654:T:C	W421R	0.999
10:49649580:G:C	W485C	0.999
10:49649580:G:T	W485C	0.999
10:49655144:T:C	F562L	0.999
10:49655146:C:A	F562L	0.999
10:49655146:C:G	F562L	0.999
10:49625562:G:C	R281P	0.998
10:49625637:T:A	V306E	0.998
10:49627681:T:A	I336K	0.998
10:49627747:G:C	R358T	0.998
10:49627748:G:C	R358S	0.998
10:49627748:G:T	R358S	0.998
10:49646545:C:G	C384W	0.998
10:49646651:C:A	R420S	0.998
10:49649579:G:C	W485S	0.998
10:49625582:G:C	D288H	0.997

dbSNP variants (sampled 300 via entrez): RS1000034411 (10:49657362 G>A), RS1000104212 (10:49616045 C>T), RS1000112882 (10:49648484 C>A), RS1000162212 (10:49663696 G>A), RS1000230060 (10:49610630 C>G), RS1000232141 (10:49645430 T>C), RS1000234617 (10:49610416 C>A,T), RS1000277225 (10:49663397 T>C), RS1000315311 (10:49667060 G>A), RS1000411452 (10:49643265 A>G), RS1000415296 (10:49616333 C>T), RS1000417731 (10:49629990 C>G,T), RS1000501770 (10:49649845 C>A), RS1000536637 (10:49636012 T>C,G), RS1000551018 (10:49657100 G>A)

Disease associations

OMIM: gene MIM:118490 | disease phenotypes: MIM:254210, MIM:617239, MIM:601462, MIM:608931

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital myasthenic syndrome 6	Strong	Autosomal recessive
presynaptic congenital myasthenic syndrome	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
congenital myasthenic syndrome 6	Definitive	AR

Mondo (8): congenital myasthenic syndrome 6 (MONDO:0009689), congenital myasthenic syndrome 21 (MONDO:0014983), congenital myasthenic syndrome (MONDO:0018940), aspiration pneumonia (MONDO:0000265), flatfoot (MONDO:0005293), lactic acidosis (MONDO:0006040), congenital myasthenic syndrome 4C (MONDO:0012157), (MONDO:0020345)

Orphanet (1): Congenital myasthenic syndrome (Orphanet:590)

HPO phenotypes

79 total (30 of 79 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000218	High palate
HP:0000276	Long face
HP:0000308	Microretrognathia
HP:0000369	Low-set ears
HP:0000407	Sensorineural hearing impairment
HP:0000467	Neck muscle weakness
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000565	Esotropia
HP:0000597	Ophthalmoparesis
HP:0000602	Ophthalmoplegia
HP:0000639	Nystagmus
HP:0000651	Diplopia
HP:0000768	Pectus carinatum
HP:0000961	Cyanosis
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001265	Hyporeflexia
HP:0001270	Motor delay
HP:0001283	Bulbar palsy
HP:0001284	Areflexia
HP:0001288	Gait disturbance
HP:0001374	Congenital hip dislocation
HP:0001382	Joint hypermobility
HP:0001558	Decreased fetal movement
HP:0001561	Polyhydramnios
HP:0001611	Hypernasal speech

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST003467_8	Glaucoma (primary angle closure)	3.000000e-16
GCST003467_9	Glaucoma (primary angle closure)	5.000000e-16
GCST006104_3	Interleukin-1-receptor antagonist levels	6.000000e-07
GCST006168_8	Pulse pressure x alcohol consumption interaction (2df test)	5.000000e-08
GCST007021_6	Type 2 diabetes nephropathy	9.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004754	interleukin 1 receptor antagonist measurement
EFO:0004329	alcohol drinking
EFO:0005763	pulse pressure measurement

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D000140	Acidosis, Lactic	C18.452.076.176.180
D005413	Flatfoot	C05.330.488.655.250; C05.330.495.681.250; C05.660.585.512.380.813.250; C16.131.621.585.512.500.681.250
D020294	Myasthenic Syndromes, Congenital	C10.668.758.800; C16.320.590
D011015	Pneumonia, Aspiration	C01.748.610.529; C08.381.677.529; C08.730.610.529
C535759	Congenital myasthenic syndrome with episodic apnea (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4039 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 10,084 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1213327	COENZYME_A	3	10,084

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

6 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs1880676	Efficacy	3	olanzapine	Schizophrenia
rs2177370	Efficacy	3	rivastigmine	Alzheimer Disease
rs2177370	Efficacy	3	galantamine	Alzheimer Disease
rs2177370	Efficacy	3	donepezil	Alzheimer Disease
rs3793790	Efficacy	3	donepezil;galantamine;rivastigmine	Alzheimer Disease
rs3810950	Efficacy	3	olanzapine	Schizophrenia

PharmGKB variants

25 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1880676	CHAT	3	0.00	1	olanzapine
rs1917818	CHAT		0.00	0
rs2177369	CHAT		0.00	0
rs2177370	CHAT	3	2.00	3	galantamine;donepezil;rivastigmine
rs3793790	CHAT	3	2.00	1	donepezil;galantamine;rivastigmine
rs3793791	CHAT		0.00	0
rs3793797	CHAT		0.00	0
rs3793798	CHAT		0.00	0
rs3793800	CHAT		0.00	0
rs3793801	CHAT		0.00	0
rs3810950	CHAT	3	0.00	1	olanzapine
rs4838391	CHAT		0.00	0
rs4838392	CHAT		0.00	0
rs4838547	CHAT		0.00	0
rs7076926	CHAT		0.00	0
rs7094248	CHAT		0.00	0
rs7094421	CHAT		0.00	0
rs10776586	CHAT		0.00	0
rs11101187	CHAT		0.00	0
rs11101191	CHAT		0.00	0
rs11101192	CHAT		0.00	0
rs11101193	CHAT		0.00	0
rs12246528	CHAT		0.00	0
rs12264845	CHAT		0.00	0
rs12266458	CHAT		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Acetylcholine turnover

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
naphthylvinylmethylpyridine	Inhibition	6.47	pIC50

ChEMBL bioactivities

23 potent at pChembl≥5 of 29 total, top 23 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.00	Ki	100	nM	CONGO RED
6.52	IC50	300	nM	CHEMBL167967
6.40	IC50	400	nM	CHEMBL106212
6.40	IC50	400	nM	CHEMBL323262
6.10	Ki	800	nM	CHEMBL1160025
6.10	Ki	800	nM	REACTIVE BLUE 2
5.96	IC50	1100	nM	CHEMBL262139
5.92	Ki	1200	nM	CHEMBL1160032
5.82	IC50	1500	nM	CHEMBL419730
5.75	Ki	1800	nM	CHEMBL1160026
5.66	IC50	2200	nM	CHEMBL354870
5.64	IC50	2300	nM	CHEMBL107333
5.64	Ki	2300	nM	CHEMBL3144208
5.52	IC50	3000	nM	CHEMBL19486
5.52	Ki	3000	nM	CHEMBL398231
5.46	IC50	3500	nM	CHEMBL316739
5.43	IC50	3700	nM	CHEMBL354158
5.38	IC50	4200	nM	CHEMBL168155
5.37	IC50	4300	nM	CHEMBL433527
5.35	IC50	4500	nM	CHEMBL170902
5.30	IC50	5000	nM	CHEMBL106787
5.28	IC50	5300	nM	CHEMBL353720
5.10	Ki	8000	nM	ERYTHROSINE

PubChem BioAssay actives

23 with measured affinity, of 63 total; 23 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
disodium;4-amino-3-[[4-[4-[(1-amino-4-sulfonatonaphthalen-2-yl)diazenyl]phenyl]phenyl]diazenyl]naphthalene-1-sulfonate	52124: Inhibition of choline acetyltransferase isolated from squid head ganglia	ki	0.1000	uM
1-methyl-4-[(E)-2-naphthalen-1-ylethenyl]pyridin-1-ium chloride	52122: Inhibition of choline acetyltransferase (CAT) enzyme	ic50	0.3000	uM
1,3-dimethyl-4-[(E)-2-naphthalen-1-ylethenyl]pyridin-1-ium	52127: Inhibition of Choline Acetyltransferase	ic50	0.4000	uM
1-methyl-4-[(E)-2-naphthalen-1-ylethenyl]pyridin-1-ium	52127: Inhibition of Choline Acetyltransferase	ic50	0.4000	uM
1-amino-4-[4-[[4-chloro-6-(4-sulfoanilino)-1,3,5-triazin-2-yl]amino]-3-sulfoanilino]-9,10-dioxoanthracene-2-sulfonic acid	52124: Inhibition of choline acetyltransferase isolated from squid head ganglia	ki	0.8000	uM
1-amino-4-[4-[[4-chloro-6-(3-sulfoanilino)-1,3,5-triazin-2-yl]amino]-3-sulfoanilino]-9,10-dioxoanthracene-2-sulfonic acid	52124: Inhibition of choline acetyltransferase isolated from squid head ganglia	ki	0.8000	uM
1-methyl-4-(2-naphthalen-1-ylethynyl)pyridin-1-ium iodide	52122: Inhibition of choline acetyltransferase (CAT) enzyme	ic50	1.1000	uM
1-amino-4-[4-[[4-chloro-6-(3-sulfoanilino)-1,3,5-triazin-2-yl]amino]-3-sulfoanilino]-9,10-dioxoanthracene-2-sulfonic acid;1-amino-4-[4-[[4-chloro-6-(4-sulfoanilino)-1,3,5-triazin-2-yl]amino]-3-sulfoanilino]-9,10-dioxoanthracene-2-sulfonic acid	52124: Inhibition of choline acetyltransferase isolated from squid head ganglia	ki	1.2000	uM
1-(1-methylpyridin-1-ium-4-yl)-N-naphthalen-1-ylmethanimine	52127: Inhibition of Choline Acetyltransferase	ic50	1.5000	uM
1-amino-4-[4-[[4-hydroxy-6-(4-sulfoanilino)-1,3,5-triazin-2-yl]amino]-3-sulfoanilino]-9,10-dioxoanthracene-2-sulfonic acid	52124: Inhibition of choline acetyltransferase isolated from squid head ganglia	ki	1.8000	uM
1-methyl-2-[(E)-2-naphthalen-1-ylethenyl]pyridin-1-ium chloride	52122: Inhibition of choline acetyltransferase (CAT) enzyme	ic50	2.2000	uM
4-[(E)-2-(3-chlorophenyl)ethenyl]-1-methylpyridin-1-ium	52127: Inhibition of Choline Acetyltransferase	ic50	2.3000	uM
[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl] [3-hydroxy-2,2-dimethyl-4-[[3-[2-(methyldisulfanyl)ethylamino]-3-oxopropyl]amino]-4-oxobutyl] hydrogen phosphate	52124: Inhibition of choline acetyltransferase isolated from squid head ganglia	ki	2.3000	uM
8-anilino-5-(4-anilino-5-sulfonaphthalen-1-yl)naphthalene-1-sulfonic acid	52124: Inhibition of choline acetyltransferase isolated from squid head ganglia	ki	3.0000	uM
2-[4-[(E)-2-naphthalen-1-ylethenyl]pyridin-1-ium-1-yl]ethanol bromide	52122: Inhibition of choline acetyltransferase (CAT) enzyme	ic50	3.0000	uM
1-methyl-4-[(E)-2-phenylethenyl]quinolin-1-ium	52127: Inhibition of Choline Acetyltransferase	ic50	3.5000	uM
N-[1-methyl-4-[(E)-2-naphthalen-1-ylethenyl]pyridin-1-ium-2-yl]acetamide chloride	52122: Inhibition of choline acetyltransferase (CAT) enzyme	ic50	3.7000	uM
1-hexyl-4-[(E)-2-naphthalen-1-ylethenyl]pyridin-1-ium bromide	52122: Inhibition of choline acetyltransferase (CAT) enzyme	ic50	4.2000	uM
1-methyl-4-[(E)-2-naphthalen-1-ylethenyl]-3,6-dihydro-2H-pyridine;hydrochloride	52122: Inhibition of choline acetyltransferase (CAT) enzyme	ic50	4.3000	uM
4-[(E)-2-(3,4-dichlorophenyl)ethenyl]-1-methylpyridin-1-ium chloride	52122: Inhibition of choline acetyltransferase (CAT) enzyme	ic50	4.5000	uM
1,3-dimethyl-4-[(E)-2-phenylethenyl]pyridin-1-ium	52127: Inhibition of Choline Acetyltransferase	ic50	5.0000	uM
1-methyl-4-[(E)-2-naphthalen-1-ylethenyl]pyridin-1-ium-2-amine iodide	52122: Inhibition of choline acetyltransferase (CAT) enzyme	ic50	5.3000	uM
3’,6’-dihydroxy-2’,4’,5’,7’-tetraiodospiro[2-benzofuran-3,9’-xanthene]-1-one	52124: Inhibition of choline acetyltransferase isolated from squid head ganglia	ki	8.0000	uM

CTD chemical–gene interactions

31 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, decreases methylation, decreases expression	2
Tretinoin	increases expression, increases reaction, decreases expression	2
2,4,6-tribromophenol	decreases expression	1
daidzein	increases activity	1
decabromobiphenyl ether	decreases expression	1
arsenite	increases methylation	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
tetrabromobisphenol A	decreases expression	1
oleylamide	increases activity	1
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	increases expression	1
methyllycaconitine	decreases reaction, increases expression	1
CGP 52608	affects binding, increases reaction	1
anatoxin a	increases expression, increases reaction	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	decreases methylation	1
kangshuai yizhi	decreases activity, decreases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation, increases methylation	1
Alitretinoin	decreases expression	1
Arsenic	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cadmium	decreases expression	1
Methamphetamine	decreases activity	1
Plant Extracts	affects cotreatment, decreases expression	1
Scopolamine	decreases activity, decreases reaction	1
Triclosan	increases expression	1
Simvastatin	affects activity, affects response to substance, decreases reaction, affects expression	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5034719	Binding	Inhibition of choline acetyl transferase (unknown origin)	Discovery of Methylene Thioacetal-Incorporated α-RgIA Analogues as Potent and Stable Antagonists of the Human α9α10 Nicotinic Acetylcholine Receptor for the Treatment of Neuropathic Pain. — J Med Chem

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1NB	Abcam HeLa CHAT KO	Cancer cell line	Female
CVCL_D1VT	Abcam A-549 CHAT KO	Cancer cell line	Male
CVCL_D2AA	Abcam HCT 116 CHAT KO	Cancer cell line	Male

Clinical trials (associated diseases)

116 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00610324	PHASE4	COMPLETED	Effect of Oral Decontamination Using Chlorhexidine or Potassium Permanganate in ICU Patients
NCT02862314	PHASE4	COMPLETED	PROcalcitonin Pneumonia / Pneumonitis Associated With ASPIration
NCT03962725	PHASE4	TERMINATED	Avoiding Neuromuscular Blockers to Reduce Complications
NCT04873297	PHASE4	COMPLETED	Metoclopramide vs Placebo for Prevention of Pneumonia in Acute Stroke
NCT05079620	PHASE4	TERMINATED	Early Antibiotics After Aspiration in ICU Patients
NCT05455359	PHASE4	RECRUITING	Gastrointestinal Dysmotility on Aspiration Risk
NCT06395740	PHASE4	UNKNOWN	Aspiration Pneumonia in Cerebrovascular Stroke Patients Suffering from Bulbar Palsy
NCT02414087	PHASE4	UNKNOWN	Therapeutic Effects of Customized Insoles on Children With Flat Foot
NCT04564430	PHASE4	UNKNOWN	Clonidine for Tourniquet-related Pain in Children
NCT06211504	PHASE4	RECRUITING	Sinus Tarsi Implant as an Adjuvant Procedure to Medial Displacement Calcaneal Osteotomy in the Treatment of Mobile Adult Acquired Flatfoot Deformity
NCT00202228	PHASE4	COMPLETED	Lactate Metabolism Study in HIV Infected Persons
NCT01354652	PHASE4	TERMINATED	Lactic Acidosis During Entecavir(ETV)Treatment
NCT02080754	PHASE3	COMPLETED	Sellick Interest in Rapid Sequence Induction
NCT00004490	PHASE3	COMPLETED	Phase III Randomized Study of Sodium Dichloroacetate in Children With Congenital Lactic Acidosis
NCT03918798	PHASE2	COMPLETED	The Efficacy and Safety of Chloroprocaine 1% and 2% in Pediatric Population
NCT00004493	PHASE2	COMPLETED	Phase II Pilot Randomized Study of Sodium Dichloroacetate in Patients With Congenital Lactic Acidemia
NCT01973504	PHASE2	WITHDRAWN	Phase 2c Dose Comparison Study of MP4OX in Trauma
NCT02974257	PHASE2	TERMINATED	Thiamine vs. Placebo to Increase Oxygen Consumption After Cardiac Arrest
NCT01203592	PHASE1	COMPLETED	Efficacy of Albuterol in the Treatment of Congenital Myasthenic Syndromes
NCT06436742	PHASE1	RECRUITING	A Phase 1b Study to Investigate Safety and Tolerability of ARGX-119 in Adult Participants With DOK7-Congenital Myasthenic Syndromes (CMS)
NCT07226726	PHASE1	RECRUITING	Patients With Congenital Myasthenic Syndrome Will be Treated With Mesenchymal Stem Cell Exosome Solution
NCT03122678	PHASE1	WITHDRAWN	Thiamine Supplementation in Patients With Septic Shock
NCT00872950	Not specified	APPROVED_FOR_MARKETING	3,4-Diaminopyridine Use in Lambert-Eaton Myasthenic Syndrome(LEMS) and Congenital Myasthenic Syndromes (CMS)
NCT01403402	Not specified	RECRUITING	Congenital Muscle Disease Study of Patient and Family Reported Medical Information
NCT01474980	Not specified	COMPLETED	Pregnancy Outcomes in Congenital Myasthenie Syndrome
NCT02012933	Not specified	NO_LONGER_AVAILABLE	3,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome (LEMS) and Congenital Myasthenia (CM)
NCT02189720	Not specified	APPROVED_FOR_MARKETING	Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS),Congenital Myasthenic Syndrome
NCT03062631	Not specified	NO_LONGER_AVAILABLE	Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia
NCT05408702	Not specified	COMPLETED	Exercise in Autoimmune Myasthenia Gravis and Myasthenic Syndromes
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT06078553	Not specified	RECRUITING	A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4
NCT00164957	Not specified	COMPLETED	The Effect of Continuous Versus Enteral Pump Feeding in Aspiration in Tube Fed Patients
NCT00580346	Not specified	WITHDRAWN	Dynamic Laryngotracheal Separation for Aspiration
NCT02090205	Not specified	UNKNOWN	Mechanical Ventilation During Cardiac Surgery
NCT02416219	Not specified	COMPLETED	Efficacy of Surface Landmark Palpation for Identification of the Cricoid Cartilage in Obstetric Patients
NCT02705781	Not specified	COMPLETED	Functionality and Accuracy of the smARTrack System in Real-Life ICU Settings
NCT02720029	Not specified	WITHDRAWN	Detection of Silent Aspiration Events Utilizing pH/Impedance Probes in Hospitalized Patients
NCT02858596	Not specified	COMPLETED	The Effect of Semi-solid Feeding After Percutaneous Endoscopic Gastrostomy (PEG) on the Incidence of Aspiration Pneumonia and Postoperative Length of Stay
NCT03007862	Not specified	UNKNOWN	Bronchial Alpha Amylase as a Marker for Early Aspiration Pneumonia in Therapeutic Hypothermia.
NCT03108430	Not specified	UNKNOWN	Study of Risk Factors for Developing Inhalation Pneumonia After Inhalation