MCID: END049
MIFTS: 36

Endplate Acetylcholinesterase Deficiency malady

Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases categories
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Summaries for Endplate Acetylcholinesterase Deficiency

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MalaCards based summary: Endplate Acetylcholinesterase Deficiency, also known as synaptic congenital myasthenic syndromes, is related to congenital myasthenic syndrome and schwartz–jampel syndrome, and has symptoms including An important gene associated with Endplate Acetylcholinesterase Deficiency is COLQ (collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase), and among its related pathways are Degradation of the extracellular matrix and ECM proteoglycans. The compounds edrophonium and nicotine have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are respiratory system and growth/size/body.

Description from OMIM:46 603034

Aliases & Classifications for Endplate Acetylcholinesterase Deficiency

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Sources:
46OMIM, 44Novoseek, 62UMLS, 48Orphanet, 26ICD10 via Orphanet
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Endplate Acetylcholinesterase Deficiency, Aliases & Descriptions:

Name: Endplate Acetylcholinesterase Deficiency 46 44 62
 
Synaptic Congenital Myasthenic Syndromes 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases


External Ids:

OMIM46 603034
ICD10 via Orphanet26 G70.2

Related Diseases for Endplate Acetylcholinesterase Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1congenital myasthenic syndrome31.1MUSK
2schwartz–jampel syndrome10.3
3neuropathy10.0LAMB2, DOK7
4myasthenia gravis9.8ACHE, MUSK
5myopathy9.8ACHE, DOK7, LAMB2
6muscular dystrophy9.8MUSK, LAMB2

Graphical network of diseases related to Endplate Acetylcholinesterase Deficiency:



Diseases related to endplate acetylcholinesterase deficiency

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 24)
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
24 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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Anatomical Context for Endplate Acetylcholinesterase Deficiency

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MalaCards organs/tissues related to Endplate Acetylcholinesterase Deficiency:

32
Eye

Animal Models for Endplate Acetylcholinesterase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Endplate Acetylcholinesterase Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.5DOK7, ACHE, MUSK
2MP:00053788.1COLQ, LAMB2, MUSK, ACHE
3MP:00053867.6LAMB2, COLQ, ACHE, DOK7, MUSK
4MP:00036317.5LAMB2, COLQ, ACHE, DOK7, MUSK
5MP:00107687.4COLQ, ACHE, DOK7, LAMB2, 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:

64
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 Name 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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Expression patterns in normal tissues for genes affiliated with Endplate Acetylcholinesterase Deficiency

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

Pathways for genes affiliated with Endplate Acetylcholinesterase Deficiency

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Pathways related to Endplate Acetylcholinesterase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4MUSK, LAMB2
29.4MUSK, LAMB2

Compounds for genes affiliated with Endplate Acetylcholinesterase Deficiency

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Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 50PharmGKB, 24HMDB
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Compounds related to Endplate Acetylcholinesterase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1edrophonium44 1110.3MUSK, ACHE
2nicotine44 28 50 1112.3MUSK, ACHE
3acetylcholine44 50 28 24 1112.7LAMB2, MUSK, ACHE
4heparin44 28 24 1111.7LAMB2, MUSK, COLQ

GO Terms for genes affiliated with Endplate Acetylcholinesterase Deficiency

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Cellular components related to Endplate Acetylcholinesterase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1postsynaptic membraneGO:0452119.3ACHE, MUSK
2basal laminaGO:0056058.9COLQ, ACHE, LAMB2
3synapseGO:0452028.6COLQ, ACHE, LAMB2
4neuromuscular junctionGO:0315948.5ACHE, DOK7, MUSK
5cell junctionGO:0300548.0MUSK, DOK7, ACHE, COLQ

Biological processes related to Endplate Acetylcholinesterase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine catabolic process in synaptic cleftGO:0015079.4COLQ, ACHE
2cell adhesionGO:0071559.3ACHE, LAMB2
3retina development in camera-type eyeGO:0600419.2LAMB2, ACHE
4extracellular matrix organizationGO:0301989.1MUSK, LAMB2
5neuromuscular junction developmentGO:0075288.7DOK7, MUSK, LAMB2

Products for genes affiliated with Endplate Acetylcholinesterase Deficiency

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  • Antibodies
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Sources for Endplate Acetylcholinesterase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet