Details of Disease

General Information of Disease (ID: DISXKTDN)

Disease Name Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Synonyms
encephalopathy due to defective mitochondrial and peroxisomal fission type 2; Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; EMPF2; MFF-associated encephalopathy due to peroxisomal and mitochondrial fission defect; encephalopathy due to defective mitochondrial and peroxisomal fission 2
Disease Hierarchy
DIS7RGZ4: Encephalopathy due to mitochondrial and peroxisomal fission defect
DISP9UN3: Mendelian encephalopathy
DISXKTDN: Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Disease Identifiers
MONDO ID
MONDO_0014905
UMLS CUI
C4310726
OMIM ID
617086
MedGen ID
934693
Orphanet ID
485421

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
MFF OTEVIXOM Definitive Autosomal recessive [1]
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References

1 Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. J Med Genet. 2016 Apr;53(4):270-8. doi: 10.1136/jmedgenet-2015-103500. Epub 2016 Jan 18.