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:
expandinborn mitochondrial myopathy (MONDO:0009637)
..Starting node
..expandmitochondrial encephalomyopathy ()

       Child Nodes:
........expandMELAS syndrome ()  LSDB  L: 00163;
........expandMERRF syndrome ()  LSDB  L: 00162;



 Sister Nodes: 
..expandadenosine monophosphate deaminase deficiency ()
..expandadult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy ()
..expandautosomal dominant mitochondrial myopathy with exercise intolerance ()  LSDB  L: 00509;
..expandBarth syndrome ()  LSDB  L: 00399;
..expandcongenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome ()  LSDB  L: 00045;
..expandfatal infantile encephalocardiomyopathy ()
..expandhereditary myopathy with lactic acidosis due to ISCU deficiency ()  LSDB  L: 00476;
..expandlethal infantile mitochondrial myopathy ()  LSDB  L: 00172;
..expandmaternally-inherited progressive external ophthalmoplegia ()
..expandmitochondrial complex I deficiency ()  LSDB  L: 00011;
..expandmitochondrial complex II deficiency ()  LSDB  L: 00016;
..expandmitochondrial encephalomyopathy ()
..expandmitochondrial myopathy and sideroblastic anemia ()
..expandmitochondrial myopathy with a defect in mitochondrial-protein transport ()  LSDB  L: 00407;
..expandmitochondrial myopathy with lactic acidosis ()  LSDB  L: 00408;
..expandmitochondrial myopathy with reversible cytochrome C oxidase deficiency ()  LSDB  L: 00158;
..expandmitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy ()
..expandmitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome ()  LSDB  L: 00532;
..expandmitochondrial neurogastrointestinal encephalomyopathy ()
..expandmitochondrial trifunctional protein deficiency ()  LSDB  L: 00417;
..expandmyopathy and diabetes mellitus ()  LSDB  L: 00146;
..expandperiodic paralysis with later-onset distal motor neuropathy ()
..expandprogressive external ophthalmoplegia ()
..expandsensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome ()  LSDB  L: 00042;
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:4675
Name:mitochondrial encephalomyopathy
Definition:A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal