Details of Disease

General Information of Disease (ID: DISEIX04)

Disease Name Myopathy, epilepsy, and progressive cerebral atrophy
Synonyms MEPCA
Disease Hierarchy
DISYKSRF: Genetic disease
DISEIX04: Myopathy, epilepsy, and progressive cerebral atrophy
Disease Identifiers
MONDO ID
MONDO_0033619
UMLS CUI
C5436652
OMIM ID
619036
MedGen ID
1759100

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
ALG14 OTBM7K28 Strong Autosomal recessive [1]
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References

1 Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG. Neurology. 2017 Aug 15;89(7):657-664. doi: 10.1212/WNL.0000000000004234. Epub 2017 Jul 21.