Details of Disease

General Information of Disease (ID: DIS8VKGV)

Disease Name Neuromuscular junction disease
Definition
Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.
Disease Hierarchy
DISQTIJZ: Neuromuscular disease
DIS2KCLJ: Synaptopathy
DISWD40R: Disease
DIS8VKGV: Neuromuscular junction disease
Disease Identifiers
MONDO ID
MONDO_0020124
MESH ID
D020511
UMLS CUI
C0751950
MedGen ID
155665
Orphanet ID
98491
SNOMED CT ID
128213006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GFPT1 OTQBDO45 Strong Genetic Variation [1]
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References

1 Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6.