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 disease with epilepsy (MONDO:0016402)
Parent Node:
expandmitochondrial disease with peripheral neuropathy (MONDO:0016403)
Parent Node:
expandmitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies (MONDO:0016578)
..Starting node
..expandcoenzyme Q10 deficiency ()

       Child Nodes:
........expandautosomal recessive ataxia due to ubiquinone deficiency ()  LSDB  L: 00443;
........expanddeafness-encephaloneuropathy-obesity-valvulopathy syndrome ()  LSDB  L: 00446;
........expandencephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ()  LSDB  L: 00448;
........expandfamilial steroid-resistant nephrotic syndrome with sensorineural deafness ()  LSDB  L: 00480;
........expandLeigh syndrome with nephrotic syndrome ()
........expandneonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ()  LSDB  L: 00639;
........expandprimary coenzyme Q10 deficiency 8 ()  LSDB  L: 00640;



 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:18151
Name:coenzyme Q10 deficiency
Definition:A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.
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Synonyms:coenzyme Q10 deficiency disease; coenzyme Q10 deficiency, primary; CoQ10 deficiency; CoQ10 deficiency, primary
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal