MCID: END049
MIFTS: 34

Endplate Acetylcholinesterase Deficiency malady

Genetic diseases (common) category

Aliases & Classifications for Endplate Acetylcholinesterase Deficiency

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Sources:
45OMIM, 10diseasecard, 43Novoseek, 22GTR, 60UMLS
See all sources

Endplate Acetylcholinesterase Deficiency, Aliases & Descriptions:

Name: Endplate Acetylcholinesterase Deficiency 45 10 43 22 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 603034

Summaries for Endplate Acetylcholinesterase Deficiency

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OMIM:45 Congenital myasthenic syndromes (CMS) are genetic disorders of the neuromuscular junction that can be classified by the... (603034) more...

MalaCards based summary: Endplate Acetylcholinesterase Deficiency is related to congenital myasthenic syndrome and myasthenia gravis, and has symptoms including autosomal recessive inheritance, ptosis and ophthalmoparesis. An important gene associated with Endplate Acetylcholinesterase Deficiency is COLQ (collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase). The compounds heparin and edrophonium have been mentioned in the context of this disorder. Related mouse phenotypes are growth/size/body and respiratory system.

Related Diseases for Endplate Acetylcholinesterase Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1congenital myasthenic syndrome10.2MUSK
2myasthenia gravis9.8MUSK, ACHE
3myopathy9.8DOK7, ACHE

Symptoms for Endplate Acetylcholinesterase Deficiency

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Symptoms by clinical synopsis from OMIM:

603034

Clinical features from OMIM:

603034

HPO human phenotypes related to Endplate Acetylcholinesterase Deficiency:

(show all 23)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 ptosis HP:0000508
3 ophthalmoparesis HP:0000597
4 muscular hypotonia HP:0001252
5 dysarthria HP:0001260
6 weak cry HP:0001612
7 dysphagia HP:0002015
8 respiratory insufficiency HP:0002093
9 scoliosis HP:0002650
10 abnormality of the immune system HP:0002715
11 respiratory insufficiency due to muscle weakness HP:0002747
12 decreased muscle mass HP:0003199
13 hyperlordosis HP:0003307
14 generalized muscle weakness HP:0003324
15 easy fatigability HP:0003388
16 emg HP:0003403
17 prolonged miniature endplate currents HP:0003436
18 decreased size of nerve terminals HP:0003443
19 fatigable weakness HP:0003473
20 type 2 muscle fiber atrophy HP:0003554
21 infantile onset HP:0003593
22 limb muscle weakness HP:0003690
23 feeding difficulties in infancy HP:0008872

Drugs & Therapeutics for Endplate Acetylcholinesterase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Endplate Acetylcholinesterase Deficiency

Search NIH Clinical Center for Endplate Acetylcholinesterase Deficiency

Genetic Tests for Endplate Acetylcholinesterase Deficiency

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Genetic tests related to Endplate Acetylcholinesterase Deficiency:

id Genetic test Affiliating Genes
1 Endplate Acetylcholinesterase Deficiency22

Anatomical Context for Endplate Acetylcholinesterase Deficiency

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Animal Models for Endplate Acetylcholinesterase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Endplate Acetylcholinesterase Deficiency:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.8COLQ, ACHE, MUSK
2MP:00053888.4MUSK, DOK7, ACHE
3MP:00053868.1COLQ, ACHE, DOK7, MUSK
4MP:00036318.0COLQ, ACHE, DOK7, MUSK
5MP:00107687.7COLQ, ACHE, DOK7, MUSK

Publications for Endplate Acetylcholinesterase Deficiency

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Articles related to Endplate Acetylcholinesterase Deficiency:

idTitleAuthorsYear
1
Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction. (23553736)
2013
2
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia. (21952943)
2011
3
Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. (18647752)
2008
4
Congenital endplate acetylcholinesterase deficiency responsive to ephedrine. (16009904)
2005
5
Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency. (12609505)
2003
6
Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. (9689136)
1998
7
Treatment of congenital endplate acetylcholinesterase deficiency by neuromuscular blockade. (8807428)
1996
8
Congenital endplate acetylcholinesterase deficiency. (8390325)
1993

Variations for Endplate Acetylcholinesterase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Endplate Acetylcholinesterase Deficiency:

62
id Symbol AA change Variation ID SNP ID
1COLQp.Pro59GlnVAR_010133
2COLQp.Asp342GluVAR_010134
3COLQp.Arg410GlnVAR_010135
4COLQp.Tyr430SerVAR_010136
5COLQp.Cys444TyrVAR_010137
6COLQp.Ile337ThrVAR_071710

Clinvar genetic disease variations for Endplate Acetylcholinesterase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1COLQCOLQ, 215-BP DEL, NT107deletionPathogenic
2COLQNM_005677.3(COLQ): c.640G> T (p.Glu214Ter)single nucleotide variantPathogenicrs104893733GRCh37Chr 3, 15512120: 15512120
3COLQNM_005677.3(COLQ): c.506C> G (p.Ser169Ter)single nucleotide variantPathogenicrs104893734GRCh37Chr 3, 15516954: 15516954
4COLQNM_005677.3(COLQ): c.844A> T (p.Arg282Ter)single nucleotide variantPathogenicrs121908922GRCh37Chr 3, 15499803: 15499803
5COLQCOLQ, 1-BP DEL, 1082CdeletionPathogenic
6COLQCOLQ, 1-BP INS, 788CinsertionPathogenic
7COLQNM_005677.3(COLQ): c.1289A> C (p.Tyr430Ser)single nucleotide variantPathogenicrs121908923GRCh37Chr 3, 15495345: 15495345
8COLQNM_005677.3(COLQ): c.943C> T (p.Arg315Ter)single nucleotide variantPathogenicrs121908924GRCh37Chr 3, 15499704: 15499704
9COLQCOLQ, IVS16DS, A-G, +3single nucleotide variantPathogenic
10COLQNM_005677.3(COLQ): c.718G> T (p.Gly240Ter)single nucleotide variantPathogenicrs104893735GRCh37Chr 3, 15507944: 15507944

Expression for genes affiliated with Endplate Acetylcholinesterase Deficiency

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Search GEO for disease gene expression data for Endplate Acetylcholinesterase Deficiency.

Pathways for genes affiliated with Endplate Acetylcholinesterase Deficiency

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Compounds for genes affiliated with Endplate Acetylcholinesterase Deficiency

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Sources:
43Novoseek, 28IUPHAR, 24HMDB, 12DrugBank, 49PharmGKB
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Compounds related to Endplate Acetylcholinesterase Deficiency according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1heparin43 28 24 1212.4COLQ, MUSK
2edrophonium43 1210.3ACHE, MUSK
3nicotine43 28 49 1212.2ACHE, MUSK
4acetylcholine43 49 28 24 1213.0ACHE, MUSK

GO Terms for genes affiliated with Endplate Acetylcholinesterase Deficiency

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Cellular components related to Endplate Acetylcholinesterase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1postsynaptic membraneGO:00452119.3ACHE, MUSK
2basal laminaGO:00056059.2COLQ, ACHE
3synapseGO:00452029.0COLQ, ACHE
4neuromuscular junctionGO:00315948.6ACHE, DOK7, MUSK
5cell junctionGO:00300548.0MUSK, DOK7, ACHE, COLQ

Biological processes related to Endplate Acetylcholinesterase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junction developmentGO:00075289.1DOK7, MUSK
2acetylcholine catabolic process in synaptic cleftGO:00015079.0COLQ, ACHE

Products for genes affiliated with Endplate Acetylcholinesterase Deficiency

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  • Antibodies
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  • Proteins
  • Kits and Assays

Sources for Endplate Acetylcholinesterase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet