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Encephalopathy due to mitochondrial and peroxisomal fission defect

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Encephalopathy due to defective mitochondrial and peroxisomal fission
SNOMED CT: Encephalopathy due to mitochondrial and peroxisomal fission defect (1236807002)
Monarch Initiative: MONDO:0054865
OMIM® Phenotypic series: PS614388
Orphanet: ORPHA527276


A rare mitochondrial disease with characteristics of a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy among others. Age of onset and disease severity is also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy and white matter abnormalities. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEncephalopathy due to mitochondrial and peroxisomal fission defect

Recent clinical studies


Assia Batzir N, Bhagwat PK, Eble TN, Liu P, Eng CM, Elsea SH, Robak LA, Scaglia F, Goldman AM, Dhar SU, Wangler MF
Cold Spring Harb Mol Case Stud 2019 Jun;5(3) Epub 2019 Jun 3 doi: 10.1101/mcs.a003673. PMID: 30850373Free PMC Article
Vanstone JR, Smith AM, McBride S, Naas T, Holcik M, Antoun G, Harper ME, Michaud J, Sell E, Chakraborty P, Tetreault M; Care4Rare Consortium, Majewski J, Baird S, Boycott KM, Dyment DA, MacKenzie A, Lines MA
Eur J Hum Genet 2016 Jul;24(7):1084-8. Epub 2015 Nov 25 doi: 10.1038/ejhg.2015.243. PMID: 26604000Free PMC Article

Clinical prediction guides

Longo F, Benedetti S, Zambon AA, Sora MGN, Di Resta C, De Ritis D, Quattrini A, Maltecca F, Ferrari M, Previtali SC
Hum Mol Genet 2020 Jan 15;29(2):177-188. doi: 10.1093/hmg/ddz211. PMID: 31868880
Kumar S, Reddy AP, Yin X, Reddy PH
Biochim Biophys Acta Mol Basis Dis 2019 Sep 1;1865(9):2428-2440. Epub 2019 Jun 8 doi: 10.1016/j.bbadis.2019.06.006. PMID: 31181293Free PMC Article
Koch J, Feichtinger RG, Freisinger P, Pies M, Schrödl F, Iuso A, Sperl W, Mayr JA, Prokisch H, Haack TB
J Med Genet 2016 Apr;53(4):270-8. Epub 2016 Jan 18 doi: 10.1136/jmedgenet-2015-103500. PMID: 26783368
Kim J, Moody JP, Edgerly CK, Bordiuk OL, Cormier K, Smith K, Beal MF, Ferrante RJ
Hum Mol Genet 2010 Oct 15;19(20):3919-35. Epub 2010 Jul 21 doi: 10.1093/hmg/ddq306. PMID: 20660112Free PMC Article
Nguyen T, Bjorkman J, Paton BC, Crane DI
J Cell Sci 2006 Feb 15;119(Pt 4):636-45. Epub 2006 Jan 31 doi: 10.1242/jcs.02776. PMID: 16449325

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