Details of Disease

General Information of Disease (ID: DISFGI5B)

Disease Name Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Synonyms
encephalopathy due to defective mitochondrial and peroxisomal fission 1; EMPF; EMPF1; encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission; encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1; lethal encephalopathy due to mitochondrial and peroxisomal fission defect; DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect
Disease Hierarchy
DIS7RGZ4: Encephalopathy due to mitochondrial and peroxisomal fission defect
DISP9UN3: Mendelian encephalopathy
DISFGI5B: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Disease Identifiers
MONDO ID
MONDO_0013726
UMLS CUI
C3280660
OMIM ID
614388
MedGen ID
482290
Orphanet ID
330050

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
DNM1L OTXK1Q1G Strong Autosomal recessive [1]
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References

1 Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L. J Pediatr. 2016 Apr;171:313-6.e1-2. doi: 10.1016/j.jpeds.2015.12.060. Epub 2016 Jan 26.