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:
expandleukodystrophy (MONDO:0019046)
Parent Node:
expandmetabolic disease with dementia (MONDO:0020142)
Parent Node:
expandrare hereditary metabolic disease with peripheral neuropathy (MONDO:0016133)
Parent Node:
expandsphingolipidosis with epilepsy (MONDO:0018299)
Parent Node:
expandunclassified primitive or secondary maculopathy (MONDO:0020244)
..Starting node
..expandmetachromatic leukodystrophy ()

       Child Nodes:
........expandmetachromatic leukodystrophy due to saposin b deficiency ()
........expandmetachromatic leukodystrophy, adult-onset, with normal arylsulfatase a ()
........expandmetachromatic leukodystrophy, juvenile form ()



 Sister Nodes: 
..expandautosomal dominant osteopetrosis 2 ()
..expandBardet-Biedl syndrome ()
..expandcone-rod dystrophy ()
..expandcongenital hypotrichosis with juvenile macular dystrophy ()
..expandcystoid macular edema ()
..expandenhanced S-cone syndrome ()
..expandFarber lipogranulomatosis ()
..expandfoveal hypoplasia-presenile cataract syndrome ()
..expandgalactosialidosis ()
..expandGM1 gangliosidosis ()
..expandHermansky-Pudlak syndrome 2 ()
..expandinfantile Refsum disease ()
..expandKrabbe disease ()
..expandLaurence-Moon syndrome ()
..expandLeigh disease ()
..expandmetachromatic leukodystrophy ()
..expandmucolipidosis type IV ()
..expandneuronal ceroid lipofuscinosis ()
..expandNiemann-Pick disease type C ()
..expandRubinstein-Taybi syndrome ()
..expandSjogren-Larsson syndrome ()
..expandSorsby's fundus dystrophy ()
..expandX-linked retinoschisis ()
..expandZellweger syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18868
Name:metachromatic leukodystrophy
Definition:Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:arylsulfatase A deficiency; deficiency of cerebroside-sulfatase; MLD; Scholz cerebral sclerosis; sulfatide lipoidosis
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal