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:
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inborn mitochondrial myopathy (MONDO:0009637)
..Starting node
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mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy ()

       Child Nodes:



 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:20714
Name:mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
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