KEGG   DISEASE: Encephalopathy due to defective mitochondrial and peroxisomal fission
Entry
H01900                      Disease                                

Name
Encephalopathy due to defective mitochondrial and peroxisomal fission
Description
Encephalopathy due to defective mitochondrial and peroxisomal fission (EMPF) is a very rare lethal disorder characterized by cerebral dysgenesis, hypotonia, seizures, lactic acidosis, elevated very long chain fatty acids, and abnormally elongated mitochondria and peroxisomes. It has been described that patients have mutations in DNM1L gene, which has a critical role in regulating the fission of both mitochondria and peroxisomes. Recently, it has been reported that mutations in mitochondrial fission factor (MFF) also cause Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.
Category
Inherited metabolic disease; Nervous system disease; Mitochondrial disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Mitochondrial diseases
   H01900  Encephalopathy due to defective mitochondrial and peroxisomal fission
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H01900  Encephalopathy due to defective mitochondrial and peroxisomal fission
Pathway
hsa04217  Necroptosis
hsa04621  NOD-like receptor signaling pathway
hsa04668  TNF signaling pathway
Gene
DNM1L [HSA:10059] [KO:K17065]
MFF [HSA:56947] [KO:K22076]
Comment
See also H01354 Leigh syndrome.
Other DBs
ICD-11: 5C53.Y
ICD-10: G31.8
OMIM: 614388 617086
Reference
  Authors
Sheffer R, Douiev L, Edvardson S, Shaag A, Tamimi K, Soiferman D, Meiner V, Saada A
  Title
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.
  Journal
Am J Med Genet A 170:1603-7 (2016)
DOI:10.1002/ajmg.a.37624
Reference
  Authors
Yoon G, Malam Z, Paton T, Marshall CR, Hyatt E, Ivakine Z, Scherer SW, Lee KS, Hawkins C, Cohn RD
  Title
Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.
  Journal
J Pediatr 171:313-6.e1-2 (2016)
DOI:10.1016/j.jpeds.2015.12.060
Reference
  Authors
Koch J, Feichtinger RG, Freisinger P, Pies M, Schrodl F, Iuso A, Sperl W, Mayr JA, Prokisch H, Haack TB
  Title
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.
  Journal
J Med Genet 53:270-8 (2016)
DOI:10.1136/jmedgenet-2015-103500
LinkDB

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