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:
expandfamilial hypertrophic cardiomyopathy (MONDO:0024573)
Parent Node:
expandinborn mitochondrial metabolism disorder (MONDO:0004069)
Parent Node:
expandrare familial disorder with hypertrophic cardiomyopathy (MONDO:0020484)
..Starting node
..expandmitochondrial disease with hypertrophic cardiomyopathy ()

       Child Nodes:
........expandacyl-CoA dehydrogenase 9 deficiency ()  LSDB  L: 00419;
........expandcardiomyopathy-hypotonia-lactic acidosis syndrome ()  LSDB  L: 00040;
........expandcombined oxidative phosphorylation defect type 17 ()  LSDB  L: 00513;
........expandcombined oxidative phosphorylation defect type 23 ()  LSDB  L: 00516;
........expandencephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ()  LSDB  L: 00448;
........expandfatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency ()
........expandhypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation ()
........expandinfantile hypertrophic cardiomyopathy due to MRPL44 deficiency ()  LSDB  L: 00080;
........expandLeber hereditary optic neuropathy ()  LSDB  L: 00072;
........expandLeber plus disease ()
........expandmaternally-inherited cardiomyopathy and hearing loss ()
........expandMELAS syndrome ()  LSDB  L: 00163;
........expandMERRF syndrome ()  LSDB  L: 00162;
........expandmitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ()  LSDB  L: 00093;
........expandmitochondrial trifunctional protein deficiency ()  LSDB  L: 00417;
........expandneonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ()  LSDB  L: 00639;
........expandoptic atrophy-peripheral neuropathy-developmental delay syndrome ()
........expandSengers syndrome ()  LSDB  L: 00403;



 Sister Nodes: 
..expandfamilial syndrome associated with hypertrophic cardiomyopathy ()
..expandfatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy ()
..expandglycogen storage disease with hypertrophic cardiomyopathy ()
..expandhypertrophic cardiomyopathy 1 ()
..expandlysosomal disease with hypertrophic cardiomyopathy ()
..expandmitochondrial disease with hypertrophic cardiomyopathy ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:16327
Name:mitochondrial disease with hypertrophic cardiomyopathy
Definition:
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Synonyms:
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Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal