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:
expandcongenital structural myopathy (MONDO:0002921)
Parent Node:
expandinborn mitochondrial metabolism disorder (MONDO:0004069)
..Starting node
..expandinborn mitochondrial myopathy ()

       Child 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;



 Sister Nodes: 
..expandhypotonia-cystinuria syndrome type 1 ()
..expandinborn mitochondrial myopathy ()  LSDB  L: 00400;
..expandinherited lipoic acid biosynthesis defect ()
..expandmitochondrial complex deficiency ()
..expandmitochondrial disease with dilated cardiomyopathy ()
..expandmitochondrial disease with epilepsy ()
..expandmitochondrial disease with hypertrophic cardiomyopathy ()
..expandmitochondrial disease with peripheral neuropathy ()
..expandmitochondrial membrane transport disorder ()
..expandmitochondrial oxidative phosphorylation disorder ()
..expandunspecified inborn mitochondrial disorder ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9637
Name:inborn mitochondrial myopathy
Definition:Myopathy caused by mitochondrial abnormalities.
Alternative IDs:251900
ParentIDs:
TreeNumbers:
Synonyms:mitochondrial cytopathy; mitochondrial myopathy
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM: 251900;
MSeqDR LSDB: 00400;  
Genes:
Phenotypes
1 HP:0001939Abnormality of metabolism/homeostasis
2 HP:0001290Generalized hypotonia
3 HP:0002240Hepatomegaly
4 HP:0001265Hyporeflexia
5 HP:0000158Macroglossia
6 HP:0003737Mitochondrial myopathy
7 HP:0001270Motor delay
8 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
9 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001397406.1(FDX2):c.159T>G (p.Ala53=)112812FDX2Benign378395RCV000423979|RCV001523339|RCV001702465; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020714,MedGen:C5193223,OMIM:25190019104264221042642219:g.10426422A>CClinGen:CA9191309CN169374 not specified;
NM_001397406.1(FDX2):c.45A>G (p.Leu15=)112812FDX2Benign395782RCV000440346|RCV001523340|RCV001702444; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020714,MedGen:C5193223,OMIM:25190019104266281042662819:g.10426628T>CClinGen:CA9191365CN169374 not specified;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000210127 MSeqDR Search EnsemblMT-TA110mitochondrially encoded tRNA alanine [Source:HGNC Symbol;Acc:7475]00400
ENSG00000210191 MSeqDR Search EnsemblMT-TL2110mitochondrially encoded tRNA leucine 2 (CUN) [Source:HGNC Symbol;Acc:7491]00400
ENSG00000210112 MSeqDR Search EnsemblMT-TM110mitochondrially encoded tRNA methionine [Source:HGNC Symbol;Acc:7492]00400
ENSG00000210117 MSeqDR Search EnsemblMT-TW110mitochondrially encoded tRNA tryptophan [Source:HGNC Symbol;Acc:7501]00400

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