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:
expandgenetic dementia (MONDO:0015547)
..Starting node
..expandmetabolic disease with dementia ()

       Child Nodes:
........expandabetalipoproteinemia ()
........expandadult Refsum disease ()
........expandautosomal recessive ataxia due to ubiquinone deficiency ()  LSDB  L: 00443;
........expandautosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome ()
........expandautosomal recessive cerebellar ataxia due to a DNA repair defect ()
........expandautosomal recessive cerebellar ataxia with late-onset spasticity ()
........expandcerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ()
........expandcerebral amyloid angiopathy ()
........expandcerebral lipidosis with dementia ()
........expandchorea-acanthocytosis ()
........expandfamilial isolated deficiency of vitamin E ()
........expandhereditary sensory neuropathy-deafness-dementia syndrome ()
........expandinfantile onset spinocerebellar ataxia ()  LSDB  L: 00036;
........expandinfantile Refsum disease ()
........expandITM2B amyloidosis ()
........expandMcLeod neuroacanthocytosis syndrome ()
........expandmetachromatic leukodystrophy ()
........expandneurodegeneration with brain iron accumulation ()
........expandrecessive mitochondrial ataxia syndrome ()
........expandspastic ataxia 3 ()
........expandspastic ataxia 4 ()  LSDB  L: 00083;
........expandspastic ataxia 5 ()
........expandspinocerebellar ataxia type 28 ()  LSDB  L: 00498;
........expandspinocerebellar ataxia type 38 ()
........expandX-linked adrenoleukodystrophy ()



 Sister Nodes: 
..expandbilateral striopallidodentate calcinosis ()
..expandCADASIL ()
..expandgenetic neurodegenerative disease with dementia ()
..expandHuntington disease-like syndrome ()
..expandmetabolic disease with dementia ()
..expandneuronal intranuclear inclusion disease ()
..expandposterior cortical atrophy ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:20142
Name:metabolic disease with dementia
Definition:
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Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal