Agent Commons Collaborative Research

Mitochondrial oxidative phosphorylation disorder

rare

A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system.

Identifiers
MONDO:0016387 Orphanet:223713
Part of
Inborn mitochondrial metabolism disorder
Also known as
OXPHOS disease · OXPHOS system deficiency

Subtypes

All diseases Rare only
Disease Subtypes
  1. Mitochondrial respiratory chain complex deficiency MONDO:0000066 93
  2. Combined oxidative phosphorylation deficiency MONDO:0000732 68
  3. Mitochondrial DNA depletion syndrome MONDO:0018158 32
  4. Coenzyme Q10 deficiency MONDO:0018151 10
  5. Perrault syndrome MONDO:0017312 7
  6. Leigh syndrome MONDO:0009723 4
  7. Fatal infantile encephalocardiomyopathy MONDO:0015487 4
  8. Ataxia neuropathy spectrum MONDO:0016798 3
  9. Myopathy, lactic acidosis, and sideroblastic anemia MONDO:0000863 3
  10. Leber plus disease MONDO:0020478 2
  11. Encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0054865 2
  12. Leber hereditary optic neuropathy MONDO:0010788 1
  13. Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy MONDO:0018002 1
  14. Mitochondrial non-syndromic sensorineural hearing loss MONDO:0010779 1
  15. Charcot-Marie-Tooth disease recessive intermediate D MONDO:0014467 COX6A1
  16. Charcot-Marie-Tooth disease type 4K MONDO:0014733 SURF1
  17. FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632
  18. Kearns-Sayre syndrome MONDO:0010787
  19. NARP syndrome MONDO:0010794
  20. Zellweger-like syndrome without peroxisomal anomalies MONDO:0018861
  21. Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111 TRMU
  22. Autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 CHCHD10
  23. Autosomal dominant optic atrophy and peripheral neuropathy MONDO:0016646
  24. Autosomal dominant optic atrophy, classic form MONDO:0008134 OPA1
  25. Autosomal recessive optic atrophy, OPA7 type MONDO:0013069 TMEM126A
  26. Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0014455 IARS2
  27. Chronic diarrhea with villous atrophy MONDO:0010786
  28. Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome MONDO:0013116 GFER
  29. Deafness, aminoglycoside-induced MONDO:0010799 TRMU
  30. Hereditary spastic paraplegia 55 MONDO:0014020 MTRFR
  31. Hereditary spastic paraplegia 7 MONDO:0011803 SPG7
  32. Hereditary spastic paraplegia 77 MONDO:0014882 FARS2
  33. Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome MONDO:0014869 LARS2
  34. Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation MONDO:0017933
  35. Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome MONDO:0013458 SARS2
  36. Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome MONDO:0012622 DARS2
  37. Maternally-inherited diabetes and deafness MONDO:0010785
  38. Maternally-inherited mitochondrial dystonia MONDO:0016806
  39. Maternally-inherited progressive external ophthalmoplegia MONDO:0019016
  40. Mitochondrial DNA maintenance syndrome MONDO:0018121
  41. Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy MONDO:0018576
  42. Optic atrophy 3 MONDO:0008133 OPA3
  43. Periodic paralysis with later-onset distal motor neuropathy MONDO:0018343
  44. Pontocerebellar hypoplasia type 6 MONDO:0012683 RARS2
  45. Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency MONDO:0700371
  46. Spastic ataxia 3 MONDO:0012664 MARS2
  47. Spastic ataxia 4 MONDO:0013354 MTPAP
  48. Spinocerebellar ataxia type 28 MONDO:0012450 AFG3L2

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.