MCID: END049
MIFTS: 23

Endplate Acetylcholinesterase Deficiency malady

Neuronal, Eye categories

Summaries for Endplate Acetylcholinesterase Deficiency

Sources:
47OMIM, 33MalaCards
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MalaCards: Endplate Acetylcholinesterase Deficiency, also known as synaptic congenital myasthenic syndromes, is related to congenital myasthenic syndrome and n syndrome. An important gene associated with Endplate Acetylcholinesterase Deficiency is COLQ (collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase). The compound acetylcholine have been mentioned in the context of this disorder. Related mouse phenotypes are mortality/aging and behavior/neurological.

Description from OMIM:47 603034

Aliases & Classifications for Endplate Acetylcholinesterase Deficiency

Sources:
47OMIM, 45Novoseek, 61UMLS, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Eye


Aliases & Descriptions:

endplate acetylcholinesterase deficiency 47 45 61
synaptic congenital myasthenic syndromes 49


External Ids:

OMIM47 603034
ICD10 via Orphanet26 G70.2

Related Diseases for Endplate Acetylcholinesterase Deficiency

Sources:
17GeneCards, 18GeneDecks
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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 syndrome30.9DOK7, COLQ
2n syndrome10.3
3nephrosis10.0LAMB2
4myasthenia gravis10.0ACHE
5glaucoma10.0ACHE
6epidermolysis bullosa10.0LAMB2
7neuropathy10.0LAMB2, DOK7
8myopathy10.0LAMB2, ACHE, DOK7

Graphical network of diseases related to Endplate Acetylcholinesterase Deficiency:



Diseases related to endplate acetylcholinesterase deficiency

Clinical Features for Endplate Acetylcholinesterase Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

603034

Clinical synopsis from OMIM:

603034

Drugs & Therapeutics for Endplate Acetylcholinesterase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Endplate Acetylcholinesterase Deficiency

Drug clinical trials:

Search ClinicalTrials for Endplate Acetylcholinesterase Deficiency

Search NIH Clinical Center for Endplate Acetylcholinesterase Deficiency

Search CenterWatch for Endplate Acetylcholinesterase Deficiency

Genetic Tests for Endplate Acetylcholinesterase Deficiency

Anatomical Context for Endplate Acetylcholinesterase Deficiency

Animal Models for Endplate Acetylcholinesterase Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Endplate Acetylcholinesterase Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.0COLQ, DOK7, ACHE, LAMB2
2MP:00053867.9DOK7, LAMB2, ACHE, COLQ
3MP:00036317.7DOK7, ACHE, LAMB2, COLQ

Publications for Endplate Acetylcholinesterase Deficiency

Sources:
51PubMed
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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

Genetic Variations for Endplate Acetylcholinesterase Deficiency

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Endplate Acetylcholinesterase Deficiency:

63
id Symbol AA change Variation SNP ID
1COLQp.Pro59GlnVAR_010133
2COLQp.Asp342GluVAR_010134
3COLQp.Arg410GlnVAR_010135
4COLQp.Tyr430SerVAR_010136
5COLQp.Cys444TyrVAR_010137

Expression for genes affiliated with Endplate Acetylcholinesterase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Endplate Acetylcholinesterase Deficiency

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Endplate Acetylcholinesterase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine45 50 29 11 2413.0LAMB2, ACHE

GO Terms for genes affiliated with Endplate Acetylcholinesterase Deficiency

Sources:
16Gene Ontology
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Cellular components related to Endplate Acetylcholinesterase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junctionGO:0315949.1ACHE, DOK7
2basal laminaGO:0056058.5LAMB2, ACHE, COLQ
3synapseGO:0452028.4COLQ, ACHE, LAMB2
4cell junctionGO:0300548.3ACHE, DOK7, COLQ

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine catabolic process in synaptic cleftGO:0015079.0ACHE, COLQ
2retina development in camera-type eyeGO:0600419.0LAMB2, ACHE
3neuromuscular junction developmentGO:0075289.0LAMB2, DOK7

Products for genes affiliated with Endplate Acetylcholinesterase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Endplate Acetylcholinesterase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet