KEGG   DISEASE: Mitochondrial disease
Entry
H01427                      Disease                                

Name
Mitochondrial disease
  Subgroup
Complex I deficiency [DS:H00473]
Complex II deficiency [DS:H02005]
Complex III deficiency [DS:H02086]
COX deficiency [DS:H01368]
Combined oxidative phosphorylation deficiency [DS:H00891]
ATP synthase deficiency [DS:H01369]
Mitochondrial DNA depletion syndrome [DS:H00469]
MLASA [DS:H00898]
MELAS syndrome [DS:H01347]
Leigh syndrome [DS:H01354]
Kearns-Sayre syndrome [DS:H01355]
Leber hereditary optic atrophy [DS:H00068]
LDYT [DS:H01365]
Mitochondrial phosphate carrier deficiency [DS:H01348]
Progressive external ophthalmoplegia [DS:H01118]
MERRF syndrome [DS:H01356]
GRACILE syndrome [DS:H02007]
Infantile liver failure [DS:H01367]
MIRAS [DS:H01384]
Multiple mitochondrial dysfunctions syndrome [DS:H01894]
Diseases of the TCA cycle [DS:H01022]
Disorders of mitochondrial fatty acid oxidation [DS:H00525]
Mohr-Tranebjaerg syndrome [DS:H00989]
Bjornstad syndrome [DS:H00820]
Description
Mitochondrial diseases are clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondria. They can be caused by mutation of genes encoded by either nuclear DNA or mitochondrial DNA. While some mitochondrial disorders only affect a single organ, most of them involve multiple organ systems and often present with prominent neurologic and myopathic features.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Mitochondrial diseases
   H01427  Mitochondrial disease
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
     H01427  Mitochondrial disease
Comment
For details, please refer to each entry. See also H00473 Mitochondrial respiratory chain deficiencies.
Other DBs
ICD-11: 5C53
ICD-10: E88
MeSH: D028361
Reference
  Authors
Chinnery PF
  Title
Mitochondrial Disorders Overview
  Journal
GeneReviews (1993)
LinkDB

» Japanese version

DBGET integrated database retrieval system