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:
expanddisease of macromolecular complex (MONDO:0044971)
Parent Node:
expandisolated oxidative phosphorylation complex disorder (MONDO:0016805)
Parent Node:
expandmitochondrial complex deficiency (MONDO:0000066)
..Starting node
..expandmitochondrial complex III deficiency ()

       Child Nodes:
........expandmitochondrial complex III deficiency nuclear type 1 ()  LSDB  L: 00017;
........expandmitochondrial complex III deficiency nuclear type 2 ()  LSDB  L: 00018;
........expandmitochondrial complex III deficiency nuclear type 3 ()  LSDB  L: 00019;
........expandmitochondrial complex III deficiency nuclear type 4 ()  LSDB  L: 00020;
........expandmitochondrial complex III deficiency nuclear type 5 ()  LSDB  L: 00021;
........expandmitochondrial complex III deficiency nuclear type 6 ()  LSDB  L: 00022;
........expandmitochondrial complex III deficiency nuclear type 7 ()  LSDB  L: 00507;
........expandmitochondrial complex III deficiency nuclear type 8 ()  LSDB  L: 00528;
........expandmitochondrial complex III deficiency nuclear type 9 ()  LSDB  L: 00508;



 Sister Nodes: 
..expandcytochrome-c oxidase deficiency disease ()  LSDB  L: 00012;
..expandmitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 ()  LSDB  L: 00579;
..expandmitochondrial complex I deficiency ()  LSDB  L: 00011;
..expandmitochondrial complex II deficiency ()  LSDB  L: 00016;
..expandmitochondrial complex III deficiency ()
..expandmitochondrial complex V (ATP synthase) deficiency nuclear type 2 ()  LSDB  L: 00024;
..expandmitochondrial complex V (ATP synthase) deficiency nuclear type 3 ()  LSDB  L: 00025;
..expandmitochondrial complex V (ATP synthase) deficiency nuclear type 4 ()  LSDB  L: 00010;
..expandmitochondrial complex V (ATP synthase) deficiency, nuclear type 1 ()  LSDB  L: 00023;
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:15448
Name:mitochondrial complex III deficiency
Definition:Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:isolated coenzyme Q-cytochrome C reductase deficiency; isolated complex III deficiency; isolated CoQ-cytochrome C reductase deficiency; isolated mitochondrial respiratory chain complex III deficiency; isolated ubiquinone-cytochrome C reductase deficiency
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal