MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
expandinborn mitochondrial myopathy (MONDO:0009637)
Parent Node:
expandmaternally-inherited mitochondrial myopathy (MONDO:0016794)
..Starting node
..expandlethal infantile mitochondrial myopathy ()

       Child Nodes:



 Sister Nodes: 
..expandlethal infantile mitochondrial myopathy ()  LSDB  L: 00172;
..expandmitochondrial myopathy with reversible cytochrome C oxidase deficiency ()  LSDB  L: 00158;
..expandmyopathy and diabetes mellitus ()  LSDB  L: 00146;
..expandpure mitochondrial myopathy ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:10792
Name:lethal infantile mitochondrial myopathy
Definition:Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.
Alternative IDs:551000
ParentIDs:
TreeNumbers:
Synonyms:lethal infantile mitochondrial disease; LIMD; LIMM; mitochondrial myopathy, lethal, infantile; mitochondrial myopathy, lethal, infantile; LIMM
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM: 551000;
MSeqDR LSDB: 00172;  
Genes:
Phenotypes
1 HP:0001427Mitochondrial inheritance
2 HP:0003128Lactic acidosis
3 HP:0009069Lethal infantile mitochondrial myopathy
4 HP:0003198Myopathy
NAMDC:  Myopathy
Disease Causing ClinVar Variants
MSeqDR Portal