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Ontology Browser
Term:
hereditary myopathy with lactic acidosis due to ISCU deficiency (EFO:MONDO:0009706)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
auditory neuropathy-optic atrophy syndrome 
autosomal dominant mitochondrial myopathy with exercise intolerance 
autosomal dominant optic atrophy plus syndrome +  
Bjornstad syndrome 
Brody myopathy 
congenital diaphragmatic hernia +  
congenital myopathy +  
ethylmalonic encephalopathy 
FHL1-related myopathy +  
GRACILE syndrome 
hereditary inclusion-body myopathy +  
hereditary myopathy with lactic acidosis due to ISCU deficiency 
Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
inborn mitochondrial metabolism disorder +  
inherited rippling muscle disease +  
maternally-inherited cardiomyopathy and hearing loss 
metabolic myopathy due to lactate transporter defect 
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 
muscular dystrophy +   
myopathy caused by variation in CRPPA +  
myopathy caused by variation in FKRP +  
myopathy caused by variation in FKTN +  
myopathy caused by variation in GMPPB +  
myopathy caused by variation in POMGNT1 +  
myopathy caused by variation in POMGNT2 +  
myopathy caused by variation in POMT1 +  
myopathy caused by variation in POMT2 +  
myopathy due to calsequestrin and SERCA1 protein overload 
myopathy with abnormal lipid metabolism 
myosclerosis 
optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 
paramyotonia congenita of Von Eulenburg 
Poland syndrome 
polyglucosan body myopathy +  
potassium-aggravated myotonia +  
proximal myopathy with extrapyramidal signs 
pure mitochondrial myopathy 
Wieacker-Wolff syndrome (spectrum) +  
X-linked sideroblastic anemia with ataxia 

Synonyms
Exact Synonyms: ISCU myopathy ;   aconitase deficiency ;   iron-sulfur cluster deficiency myopathy ;   myopathy with exercise intolerance, Swedish type
Related Synonyms: HML ;   myoglobinuria due to abnormal glycolysis ;   myopathy with deficiency of succinate dehydrogenase and aconitase ;   myopathy with lactic acidosis, hereditary
Alternate IDs: MONDO:0009706
Xrefs: GARD:16643 ;   ICD9:259.8 ;   MEDGEN:342573 ;   MESH:C564972 ;   MIM:255125 ;   ORDO:43115 ;   SCTID:699268002 ;   UMLS:C1850718
Definition Sources: Orphanet:43115

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