KEGG   DISEASE: H00473Help
H00473                      Disease                                

Mitochondrial respiratory chain deficiencies (MRCD), including:
Mitochondrial complex I deficiency (MT-C1D);
Complex II deficiency (MT-C2D);
Complex III deficiency (MT-C3D);
Leigh syndrome (LS) [DS:H01354];
Leber Hereditary Optic Neuropathy (LHON) [DS:H00068];
Leber Optic Atrophy and Dystonia (LDYT) [DS:H01365];
MELAS Syndrome [DS:H01347];
Kearns-Sayre Syndrome (KSS) [DS:H01355];
GRACILE Syndrome
Mitochondrial respiratory chain deficiencies (MRCD) are a group of disorders of adults and children, with highly variable phenotypes that include macrocephaly with progressive leukodystrophy, encephalopathy (including MELAS), cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease and Alzheimer's disease.
Inherited metabolic disease; Mitochondrial disease
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Mitochondrial diseases
   H00473  Mitochondrial respiratory chain deficiencies (MRCD)
Human diseases in ICD-10 classification [BR:br08403]
 4. Endocrine, nutritional and metabolic diseases (E00-E90)
  E70-E90  Metabolic disorders
   E88  Other metabolic disorders
    H00473  Mitochondrial respiratory chain deficiencies (MRCD)
BRITE hierarchy
Oxidative phosphorylation
(MT-C1D) NDUFS1 [HSA:4719] [KO:K03934]
(MT-C1D) NDUFS2 [HSA:4720] [KO:K03935]
(MT-C1D/LS) NDUFS3 [HSA:4722] [KO:K03936]
(MT-C1D/LS) NDUFS4 [HSA:4724] [KO:K03937]
(MT-C1D) NDUFS6 [HSA:4726] [KO:K03939]
(MT-C1D/LS) NDUFS7 [HSA:374291] [KO:K03940]
(MT-C1D/LS) NDUFS8 [HSA:4728] [KO:K03941]
(MT-C1D) NDUFA1 [HSA:4694] [KO:K03945]
(MT-C1D) NDUFA11 [HSA:126328] [KO:K03956]
(MT-C1D/LS) NDUFAF2 [HSA:91942] [KO:K18160]
(MT-C1D) NDUFAF3 [HSA:25915] [KO:K09008]
(MT-C1D) NDUFAF4 [HSA:29078] [KO:K18161]
(MT-C1D/LS) NDUFV1 [HSA:4723] [KO:K03942]
(MT-C1D) NDUFV2 [HSA:4729] [KO:K03943]
(MT-C1D) NUBPL [HSA:80224] [KO:K03593]
(MT-C1D/LS) FOXRED1 [HSA:55572] [KO:K18166]
(MT-C1D) NDUFAF5 [HSA:79133] [KO:K18162]
(MT-C1D/LS) NDUFAF6 [HSA:137682] [KO:K18163]
(MT-C1D) ACAD9 [HSA:28976] [KO:K15980]
(MT-C1D/LHON/LDYT/MELAS) MT-ND1 [HSA:4535] [KO:K03878]
(MT-C1D/LHON) MT-ND2 [HSA:4536] [KO:K03879]
(MT-C1D/LS/LDYT/KSS) MT-ND3 [HSA:4537] [KO:K03880]
(MT-C1D/LHON/LDYT/KSS) MT-ND4 [HSA:4538] [KO:K03881]
(MT-C1D/LHON) MT-ND4L [HSA:4539] [KO:K03882]
(MT-C1D/LHON/LS/MELAS/KSS) MT-ND5 [HSA:4540] [KO:K03883]
(MT-C1D/LHON/LDYT/KSS) MT-ND6 [HSA:4541] [KO:K03884]
(MT-C2D) SDHAF1 [HSA:644096] [KO:K18167]
(MT-C2D/LS) SDHA [HSA:6389] [KO:K00234]
(MT-C3D/LS/GRACILE) BCS1L [HSA:617] [KO:K08900]
(MT-C3D) UQCRQ [HSA:27089] [KO:K00418]
(MT-C3D) UQCRB [HSA:7381] [KO:K00417]
(MT-C3D/LHON/KSS) MT-CYB [HSA:4519] [KO:K00412]
(MT-C3D) TTC19 [HSA:54902] [KO:K18169]
(MELAS) L-arginin [DR:D02982]
(MELAS) Coenzyme Q10 [DR:D01065]
KSS, LHON, MELAS, and MERRF can be caused by mutation in multiple genes encoded by the mitochondrial genome mtDNA.
Other DBs
Distelmaier F, Koopman WJ, van den Heuvel LP, Rodenburg RJ, Mayatepek E, Willems PH, Smeitink JA
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.
Brain 132:833-42 (2009)
Bayley JP, Devilee P, Taschner PE
The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.
BMC Med Genet 6:39 (2005)
Benit P, Lebon S, Rustin P
Respiratory-chain diseases related to complex III deficiency.
Biochim Biophys Acta 1793:181-5 (2009)
Saneto RP, Friedman SD, Shaw DW
Neuroimaging of mitochondrial disease.
Mitochondrion 8:396-413 (2008)
Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD
Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
Am J Med Genet A 155A:840-4 (2011)
Santa KM
Treatment options for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Pharmacotherapy 30:1179-96 (2010)
Koga Y, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T
MELAS and L-arginine therapy: pathophysiology of stroke-like episodes.
Ann N Y Acad Sci 1201:104-10 (2010)
Coskun P, Wyrembak J, Schriner S, Chen HW, Marciniack C, Laferla F, Wallace DC
A mitochondrial etiology of Alzheimer and Parkinson disease.
Biochim Biophys Acta (2011)
He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.
Am J Hum Genet 81:87-103 (2007)
Blazquez A, Gil-Borlado MC, Moran M, Verdu A, Cazorla-Calleja MR, Martin MA, Arenas J, Ugalde C
Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.
Neuromuscul Disord 19:143-6 (2009)

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