MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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Parent Node:
expandinborn mitochondrial myopathy (MONDO:0009637)
Parent Node:
expandmitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies (MONDO:0016578)
..Starting node
..expandfatal infantile encephalocardiomyopathy ()

       Child Nodes:
........expandcardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 ()  LSDB  L: 00482;
........expandcardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 ()  LSDB  L: 00641;
........expandcardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 ()  LSDB  L: 00642;
........expandcardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 ()  LSDB  L: 00643;



 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:15487
Name:fatal infantile encephalocardiomyopathy
Definition:Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.
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Synonyms:cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency; fatal infantile COX deficiency; fatal infantile cytochrome
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Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
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