Details of Disease

General Information of Disease (ID: DIS7RGZ4)

Disease Name Encephalopathy due to mitochondrial and peroxisomal fission defect
Synonyms encephalopathy due to defective mitochondrial and peroxisomal fission; encephalopathy due to mitochondrial and peroxisomal fission defect
Disease Hierarchy
DISK7IP8: Mitochondrial oxidative phosphorylation disorder
DISXLXVY: Disorder of defective peroxisomal and mitochondrial fission
DIS7RGZ4: Encephalopathy due to mitochondrial and peroxisomal fission defect
Disease Identifiers
MONDO ID
MONDO_0054865
UMLS CUI
C5681458
MedGen ID
1814479
Orphanet ID
527276
SNOMED CT ID
1236807002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MFF OTEVIXOM Moderate Autosomal recessive [1]
DNM1L OTXK1Q1G Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.