MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
expandperipheral neuropathy (MONDO:0005244)
..Starting node
..expandgenetic peripheral neuropathy ()

       Child Nodes:
........expandataxia - oculomotor apraxia type 4 ()
........expandautosomal dominant centronuclear myopathy ()
........expandautosomal dominant limb-girdle muscular dystrophy ()
........expandautosomal dominant mitochondrial myopathy with exercise intolerance ()  LSDB  L: 00509;
........expandautosomal dominant myoglobinuria ()
........expandautosomal recessive centronuclear myopathy ()
........expandautosomal recessive limb-girdle muscular dystrophy ()
........expandBethlem myopathy ()
........expandBrody myopathy ()
........expandcarnitine palmitoyltransferase II deficiency ()
........expandCharcot-Marie-Tooth disease ()
........expandcongenital fiber-type disproportion myopathy ()
........expandcongenital generalized lipodystrophy type 4 ()
........expandcongenital merosin-deficient muscular dystrophy 1A ()
........expandcongenital muscular dystrophy due to integrin alpha-7 deficiency ()
........expandcongenital muscular dystrophy with intellectual disability and severe epilepsy ()
........expandcongenital trigeminal anesthesia ()
........expandCyprus facial-neuromusculoskeletal syndrome ()
........expandDanon disease ()
........expandDPM3-CDG ()
........expandepisodic ataxia type 1 ()
........expandfamilial periodic paralysis ()
........expandfamilial recurrent peripheral facial palsy ()
........expandgiant axonal neuropathy 1 ()
........expandglycogen storage disease due to glycogen branching enzyme deficiency ()
........expandglycogen storage disease due to lactate dehydrogenase M-subunit deficiency ()
........expandglycogen storage disease due to muscle beta-enolase deficiency ()
........expandglycogen storage disease due to phosphoglycerate kinase 1 deficiency ()
........expandglycogen storage disease due to phosphoglycerate mutase deficiency ()
........expandglycogen storage disease II ()
........expandglycogen storage disease IXb ()
........expandglycogen storage disease IXd ()
........expandglycogen storage disease V ()
........expandglycogen storage disease VII ()
........expandglycogen storage disease XV ()
........expandhereditary motor and sensory neuropathy ()
........expandhereditary myopathy with lactic acidosis due to ISCU deficiency ()  LSDB  L: 00476;
........expandhereditary proximal myopathy with early respiratory failure ()
........expandhereditary sensory and autonomic neuropathy ()
........expandinclusion body myopathy with Paget disease of bone and frontotemporal dementia ()
........expandinfantile neuroaxonal dystrophy ()
........expandintellectual disability-developmental delay-contractures syndrome ()
........expandKlippel-Feil anomaly-myopathy-facial dysmorphism syndrome ()
........expandLaing early-onset distal myopathy ()
........expandmegaconial type congenital muscular dystrophy ()  LSDB  L: 00415;
........expandmeralgia paraesthetica, familial ()
........expandmultiple acyl-CoA dehydrogenase deficiency ()  LSDB  L: 00439;
........expandmyofibrillar myopathy 5 ()
........expandmyopathy and diabetes mellitus ()  LSDB  L: 00146;
........expandmyopathy due to calsequestrin and SERCA1 protein overload ()
........expandmyotonia congenita, autosomal recessive ()
........expandmyotonic dystrophy type 1 ()
........expandnemaline myopathy 5 ()
........expandneutral lipid storage disease ()
........expandPCWH syndrome ()
........expandpolyglucosan body myopathy type 2 ()
........expandprimary CD59 deficiency ()
........expandprogressive demyelinating neuropathy with bilateral striatal necrosis ()
........expandproximal myopathy with focal depletion of mitochondria ()  LSDB  L: 00412;
........expandSchwartz-Jampel syndrome ()
........expandshort chain acyl-CoA dehydrogenase deficiency ()  LSDB  L: 00435;
........expandspheroid body myopathy ()
........expandspinocerebellar ataxia type 1 with axonal neuropathy ()
........expandsystemic primary carnitine deficiency disease ()  LSDB  L: 00473;
........expandUllrich congenital muscular dystrophy ()
........expandX-linked centronuclear myopathy ()



 Sister Nodes: 
..expandacquired peripheral neuropathy ()
..expandautoimmune neuropathy ()
..expandautonomic neuropathy ()
..expandaxonal neuropathy ()
..expanddiabetic neuropathy ()
..expandgenetic peripheral neuropathy ()
..expandinflammatory and toxic neuropathy ()
..expandischemic neuropathy ()
..expandmononeuropathy ()
..expandmotor peripheral neuropathy ()
..expandnerve compression syndrome ()
..expandnerve plexus disease ()
..expandneuralgia ()
..expandneuritis ()
..expandneuromuscular disease ()
..expandperipheral nerve lesion ()
..expandpolyneuropathy ()
..expandPRPS1 deficiency disorder ()
..expandsensory peripheral neuropathy ()
..expanduremic neuropathy ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:20127
Name:genetic peripheral neuropathy
Definition:Genetic peripheral neuropathy.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:genetic peripheral neuropathy
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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