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 metabolism disorder (MONDO:0004069)
Parent Node:
expandrare hereditary metabolic disease with peripheral neuropathy (MONDO:0016133)
..Starting node
..expandmitochondrial disease with peripheral neuropathy ()

       Child Nodes:
........expandcoenzyme Q10 deficiency ()
........expandfumaric aciduria ()
........expandKearns-Sayre syndrome ()  LSDB  L: 00143;
........expandLeigh disease ()
........expandMEHMO syndrome ()
........expandMELAS syndrome ()  LSDB  L: 00163;
........expandMERRF syndrome ()  LSDB  L: 00162;
........expandmitochondrial DNA depletion syndrome 4a ()  LSDB  L: 00032;
........expandmitochondrial neurogastrointestinal encephalomyopathy ()
........expandNARP syndrome ()  LSDB  L: 00168;
........expandoxoglutaricaciduria ()
........expandpyruvate dehydrogenase deficiency ()
........expandsensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome ()  LSDB  L: 00042;



 Sister Nodes: 
..expandabetalipoproteinemia ()
..expandadrenomyeloneuropathy ()
..expandadult polyglucosan body disease ()
..expandadult Refsum disease ()
..expandbeta-mannosidosis ()
..expandbiotinidase deficiency ()
..expandcataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ()
..expandcerebrotendinous xanthomatosis ()
..expandchorea-acanthocytosis ()
..expandcongenital bile acid synthesis defect 4 ()
..expandde Barsy syndrome ()
..expandFabry disease ()
..expandfamilial isolated deficiency of vitamin E ()
..expandgyrate atrophy ()
..expandhomocystinuria due to methylene tetrahydrofolate reductase deficiency ()
..expandKrabbe disease ()
..expandLeigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome ()  LSDB  L: 00525;
..expandlong chain 3-hydroxyacyl-CoA dehydrogenase deficiency ()  LSDB  L: 00474;
..expandmetachromatic leukodystrophy ()
..expandmethylmalonic aciduria and homocystinuria type cblC ()
..expandmitochondrial disease with peripheral neuropathy ()
..expandNiemann-Pick disease type B ()
..expandnon-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy ()
..expandoptic atrophy-peripheral neuropathy-developmental delay syndrome ()
..expandperoxisome biogenesis disorder ()
..expandSandhoff disease ()
..expandTangier disease ()
..expandTay-Sachs disease ()
..expandtyrosinemia type I ()
..expandWilson disease ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:16403
Name:mitochondrial disease with peripheral neuropathy
Definition:
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Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal