MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandmitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies (MONDO:0016578)
..Starting node
..expandmitochondrial disorder due to a defect in mitochondrial protein synthesis ()

       Child Nodes:
........expandacute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ()  LSDB  L: 00110;
........expandc12orf65-related combined oxidative phosphorylation defect ()
........expandcataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ()
........expandcombined oxidative phosphorylation defect type 11 ()  LSDB  L: 00423;
........expandcombined oxidative phosphorylation defect type 13 ()  LSDB  L: 00512;
........expandcombined oxidative phosphorylation defect type 14 ()  LSDB  L: 00094;
........expandcombined oxidative phosphorylation defect type 15 ()  LSDB  L: 00095;
........expandcombined oxidative phosphorylation defect type 17 ()  LSDB  L: 00513;
........expandcombined oxidative phosphorylation defect type 2 ()  LSDB  L: 00096;
........expandcombined oxidative phosphorylation defect type 20 ()  LSDB  L: 00515;
........expandcombined oxidative phosphorylation defect type 21 ()  LSDB  L: 00501;
........expandcombined oxidative phosphorylation defect type 23 ()  LSDB  L: 00516;
........expandcombined oxidative phosphorylation defect type 24 ()  LSDB  L: 00517;
........expandcombined oxidative phosphorylation defect type 25 ()  LSDB  L: 00503;
........expandcombined oxidative phosphorylation defect type 26 ()  LSDB  L: 00518;
........expandcombined oxidative phosphorylation defect type 27 ()  LSDB  L: 00519;
........expandcombined oxidative phosphorylation defect type 30 ()  LSDB  L: 00521;
........expandcombined oxidative phosphorylation defect type 4 ()  LSDB  L: 00098;
........expandcombined oxidative phosphorylation defect type 7 ()  LSDB  L: 00493;
........expandcombined oxidative phosphorylation defect type 8 ()  LSDB  L: 00076;
........expandcombined oxidative phosphorylation defect type 9 ()  LSDB  L: 00100;
........expandfatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ()  LSDB  L: 00097;
........expandhepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ()  LSDB  L: 00092;
........expandhereditary spastic paraplegia 55 ()
........expandhereditary spastic paraplegia 7 ()  LSDB  L: 00497;
........expandhereditary spastic paraplegia 77 ()
........expandhydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome ()
........expandhyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ()
........expandhypotonia with lactic acidemia and hyperammonemia ()  LSDB  L: 00099;
........expandinfantile hypertrophic cardiomyopathy due to MRPL44 deficiency ()  LSDB  L: 00080;
........expandleukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ()  LSDB  L: 00418;
........expandleukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ()  LSDB  L: 00511;
........expandmitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ()  LSDB  L: 00093;
........expandmitochondrial myopathy and sideroblastic anemia ()
........expandneonatal severe cardiopulmonary failure due to mitochondrial methylation defect ()  LSDB  L: 00520;
........expandPerrault syndrome ()
........expandpontocerebellar hypoplasia type 6 ()  LSDB  L: 00420;
........expandsevere X-linked mitochondrial encephalomyopathy ()  LSDB  L: 00411;
........expandspastic ataxia 3 ()
........expandspastic ataxia 4 ()  LSDB  L: 00083;
........expandspinocerebellar ataxia type 28 ()  LSDB  L: 00498;
........expandsyndromic sensorineural deafness due to combined oxidative phosphorylation defect ()



 Sister Nodes: 
..expandCharcot-Marie-Tooth disease recessive intermediate d ()
..expandCharcot-Marie-Tooth disease type 4K ()
..expandcoenzyme Q10 deficiency ()
..expandcongenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome ()  LSDB  L: 00045;
..expandfatal infantile encephalocardiomyopathy ()
..expandLeigh disease ()
..expandlethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ()  LSDB  L: 00522;
..expandmitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes ()
..expandmitochondrial disorder due to a defect in mitochondrial protein synthesis ()
..expandmitochondrial DNA maintenance syndrome ()
..expandmitochondrial oxidative phosphorylation disorder with no known mechanism ()
..expandpancreatic insufficiency-anemia-hyperostosis syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18157
Name:mitochondrial disorder due to a defect in mitochondrial protein synthesis
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:combined oxidative phosphorylation defect; combined OXPHOS defect; combined OXPHOS deficiency; COXPD
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal