Details of Disease

General Information of Disease (ID: DISYBJBJ)

Disease Name Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
Synonyms MECREN; METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION
Disease Hierarchy
DISYKSRF: Genetic disease
DISYBJBJ: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
Disease Identifiers
MONDO ID
MONDO_0032736
UMLS CUI
C5193083
OMIM ID
618416
MedGen ID
1681269

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC25A42 DTU4HKJ Strong Autosomal recessive [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC25A42 OTP0OY77 Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans. Hum Genet. 2016 Jan;135(1):21-30. doi: 10.1007/s00439-015-1608-8. Epub 2015 Nov 5.