MCID: END049
MIFTS: 30

Endplate Acetylcholinesterase Deficiency malady

Neuronal diseases, Eye diseases categories

Summaries for Endplate Acetylcholinesterase Deficiency

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46OMIM, 32MalaCards
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MalaCards: Endplate Acetylcholinesterase Deficiency, also known as synaptic congenital myasthenic syndromes, is related to congenital myasthenic syndrome and nephrosis. 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. Affiliated tissues include eye, and related mouse phenotypes are mortality/aging and behavior/neurological.

Description from OMIM:46 603034

Aliases & Classifications for Endplate Acetylcholinesterase Deficiency

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46OMIM, 44Novoseek, 60UMLS, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

endplate acetylcholinesterase deficiency 46 44 60
synaptic congenital myasthenic syndromes 48


External Ids:

OMIM46 603034
ICD10 via Orphanet26 G70.2

Related Diseases for Endplate Acetylcholinesterase Deficiency

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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
2nephrosis10.0LAMB2
3myasthenia gravis10.0ACHE
4glaucoma10.0ACHE
5epidermolysis bullosa10.0LAMB2
6neuropathy10.0DOK7, LAMB2
7myopathy10.0DOK7, ACHE, LAMB2

Graphical network of diseases related to Endplate Acetylcholinesterase Deficiency:



Diseases related to endplate acetylcholinesterase deficiency

Clinical Features for Endplate Acetylcholinesterase Deficiency

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46OMIM
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Clinical features from OMIM:

603034

Clinical synopsis from OMIM:

603034

Drugs & Therapeutics for Endplate Acetylcholinesterase Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Endplate Acetylcholinesterase Deficiency

Search CenterWatch for Endplate Acetylcholinesterase Deficiency

Genetic Tests for Endplate Acetylcholinesterase Deficiency

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Anatomical Context for Endplate Acetylcholinesterase Deficiency

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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Endplate Acetylcholinesterase Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.0LAMB2, ACHE, DOK7, COLQ
2MP:00053867.9LAMB2, ACHE, DOK7, COLQ
3MP:00036317.7COLQ, DOK7, ACHE, LAMB2

Publications for Endplate Acetylcholinesterase Deficiency

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Genetic Variations for Endplate Acetylcholinesterase Deficiency

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62UniProtKB/Swiss-Prot
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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

Expression for genes affiliated with Endplate Acetylcholinesterase Deficiency

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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

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Compounds for genes affiliated with Endplate Acetylcholinesterase Deficiency

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Endplate Acetylcholinesterase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine44 49 28 11 2413.0LAMB2, ACHE

GO Terms for genes affiliated with Endplate Acetylcholinesterase Deficiency

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet