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
..Starting node
..expandleukodystrophy ()

       Child Nodes:
........expandadult Refsum disease ()
........expandadult-onset autosomal dominant demyelinating leukodystrophy ()
........expandAicardi-Goutieres syndrome ()
........expandAlexander disease ()
........expandalkaline ceramidase 3 deficiency ()
........expandCADDS ()
........expandCanavan disease ()
........expandcerebrotendinous xanthomatosis ()
........expandcystic leukoencephalopathy without megalencephaly ()
........expandDermatoleukodystrophy ()
........expandhereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia ()
........expandhereditary spastic paraplegia 2 ()
........expandhypomyelinating leukodystrophy 10 ()
........expandhypomyelinating leukodystrophy 11 ()
........expandhypomyelinating leukodystrophy 12 ()
........expandhypomyelinating leukodystrophy 13 ()
........expandhypomyelinating leukodystrophy 5 ()
........expandhypomyelinating leukodystrophy 6 ()
........expandhypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ()
........expandhypomyelinating leukodystrophy 9 ()
........expandhypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism ()
........expandhypomyelination with brain stem and spinal cord involvement and leg spasticity ()
........expandKrabbe disease ()
........expandleukodystrophy, hypomyelinating, 14 ()
........expandleukodystrophy, hypomyelinating, 15 ()
........expandleukodystrophy, hypomyelinating, 16 ()
........expandleukodystrophy, hypomyelinating, 17 ()
........expandleukoencephalopathy with bilateral anterior temporal lobe cysts ()
........expandleukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ()  LSDB  L: 00418;
........expandleukoencephalopathy with mild cerebellar ataxia and white matter edema ()
........expandleukoencephalopathy with vanishing white matter ()
........expandleukoencephalopathy-dystonia-motor neuropathy syndrome ()
........expandleukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ()  LSDB  L: 00511;
........expandmegalencephalic leukoencephalopathy with subcortical cysts ()
........expandmetachromatic leukodystrophy ()
........expandmultiple mitochondrial dysfunctions syndrome 4 ()  LSDB  L: 00530;
........expandNasu-Hakola disease ()
........expandnon-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy ()
........expandPCWH syndrome ()
........expandPelizaeus-Merzbacher disease ()
........expandPelizaeus-Merzbacher-like disease ()
........expandperoxisome biogenesis disorder ()
........expandprogressive cavitating leukoencephalopathy ()
........expandprogressive encephalopathy with leukodystrophy due to DECR deficiency ()
........expandravine syndrome ()
........expandribose-5-P isomerase deficiency ()
........expandSjogren-Larsson syndrome ()
........expandspastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy ()
........expandunknown leukodystrophy ()
........expandX-linked adrenoleukodystrophy ()



 Sister Nodes: 
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19046
Name:leukodystrophy
Definition:Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:HLD; hypomyelinating leukodystrophy; hypomyelinating leukoencephalopathy; leukodystrophy, hypomyelinating
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal