KEGG DISEASE: Encephalopathy due to defective mitochondrial and peroxisomal fission

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

Necroptosis

NOD-like receptor signaling pathway

TNF signaling pathway

Gene

DNM1L [HSA:10059] [KO:K17065]
MFF [HSA:56947] [KO:K22076]

Comment

See also H01354 Leigh syndrome.

Other DBs

ICD-11:

ICD-10:

OMIM:

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

» Japanese version

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