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 disorder
Brite
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
(EMPF1) DNM1L [HSA:10059] [KO:K17065]
(EMPF2) MFF [HSA:56947] [KO:K22076]
Comment
See also H01354 Leigh syndrome.
Other DBs
ICD-11: 5C53.Y
OMIM: 614388 617086
Reference
PMID:26992161
  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
PMID:17460227 (EMPF1)
  Authors
Waterham HR, Koster J, van Roermund CW, Mooyer PA, Wanders RJ, Leonard JV
  Title
A lethal defect of mitochondrial and peroxisomal fission.
  Journal
N Engl J Med 356:1736-41 (2007)
DOI:10.1056/NEJMoa064436
Reference
PMID:26783368 (EMPF2)
  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
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