KEGG   DISEASE: Mitochondrial complex I deficiencyHelp
Entry
H00473                      Disease                                

Name
Mitochondrial complex I deficiency
  Supergrp
Mitochondrial disease [DS:H01427]
Description
Mitochondrial complex I deficiency, the most common mitochondrial disorders, is a group of highly heterogeneous conditions characterised by faulty oxidative phosphorylation (OXPHOS). Human complex I is a giant multiheteromeric structure. Complex I deficiency is known to be associated with a broad spectrum of clinical presentations, that include encephalopathy, cardiomyopathy, myopathy, and liver disease.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Mitochondrial diseases
   H00473  Mitochondrial complex I deficiency
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
     H00473  Mitochondrial complex I deficiency
BRITE hierarchy
Pathway
hsa00190 Oxidative phosphorylation   
Gene
NDUFS1 [HSA:4719] [KO:K03934]
NDUFS2 [HSA:4720] [KO:K03935]
NDUFS3 [HSA:4722] [KO:K03936]
NDUFS4 [HSA:4724] [KO:K03937]
NDUFS6 [HSA:4726] [KO:K03939]
NDUFS7 [HSA:374291] [KO:K03940]
NDUFS8 [HSA:4728] [KO:K03941]
NDUFA1 [HSA:4694] [KO:K03945]
NDUFA11 [HSA:126328] [KO:K03956]
NDUFA13 [HSA:51079] [KO:K11353]
NDUFAF1 [HSA:51103] [KO:K18159]
NDUFAF2 [HSA:91942] [KO:K18160]
NDUFAF3 [HSA:25915] [KO:K09008]
NDUFAF4 [HSA:29078] [KO:K18161]
NDUFV1 [HSA:4723] [KO:K03942]
NDUFV2 [HSA:4729] [KO:K03943]
NUBPL [HSA:80224] [KO:K03593]
FOXRED1 [HSA:55572] [KO:K18166]
NDUFAF5 [HSA:79133] [KO:K18162]
NDUFAF6 [HSA:137682] [KO:K18163]
NDUFB3 [HSA:4709] [KO:K03959]
NDUFB9 [HSA:4715] [KO:K03965]
ACAD9 [HSA:28976] [KO:K15980]
TIMMDC1 [HSA:51300]
TMEM126B [HSA:55863] [KO:K18165]
MT-ND1 [HSA:4535] [KO:K03878]
MT-ND2 [HSA:4536] [KO:K03879]
MT-ND3 [HSA:4537] [KO:K03880]
MT-ND4 [HSA:4538] [KO:K03881]
MT-ND4L [HSA:4539] [KO:K03882]
MT-ND5 [HSA:4540] [KO:K03883]
MT-ND6 [HSA:4541] [KO:K03884]
Other DBs
ICD-11: 5C53.2Y
ICD-10: E88.8
MeSH: C537475
OMIM: 252010 611126
Reference
  Authors
Distelmaier F, Koopman WJ, van den Heuvel LP, Rodenburg RJ, Mayatepek E, Willems PH, Smeitink JA
  Title
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.
  Journal
Brain 132:833-42 (2009)
DOI:10.1093/brain/awp058
Reference
  Authors
He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J
  Title
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.
  Journal
Am J Hum Genet 81:87-103 (2007)
DOI:10.1086/519219
Reference
  Authors
Fassone E, Taanman JW, Hargreaves IP, Sebire NJ, Cleary MA, Burch M, Rahman S
  Title
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.
  Journal
J Med Genet 48:691-7 (2011)
DOI:10.1136/jmedgenet-2011-100340
Reference
  Authors
Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H
  Title
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
  Journal
J Med Genet 49:277-83 (2012)
DOI:10.1136/jmedgenet-2012-100846

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