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Ontology Browser

Term:
metachromatic leukodystrophy (DOID:10581)
Annotations: Rat: (7) Mouse: (7) Human: (7) Chinchilla: (7) Bonobo: (7) Dog: (7) Squirrel: (7) Pig: (7)
Parent Terms Term With Siblings Child Terms
Dysmyelinating Leukodystrophy with Oligodontia  
Dysmyelination with Jaundice 
early infantile epileptic encephalopathy 39  
Fabry disease +   
Farber lipogranulomatosis  
gangliosidosis +   
Gaucher's disease +   
hypomyelinating leukodystrophy +   
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
Krabbe disease +   
Leber hereditary optic neuropathy with demyelinating disease of CNS 
megalencephalic leukoencephalopathy with subcortical cysts +   
Megalencephaly with Dysmyelination 
metachromatic leukodystrophy +   
An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.
mucosulfatidosis  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
Niemann-Pick disease +   
Optic Atrophy with Demyelinating Disease of CNS 
retinal vasculopathy with cerebral leukodystrophy  
sea-blue histiocytosis  
Sulfatidosis +   

Synonyms
Exact Synonyms: ARSA Deficiencies ;   ARSA Deficiency ;   Adult Metachromatic Leukodystrophies ;   Adult-Type Metachromatic Leukodystrophies ;   Adult-Type Metachromatic Leukodystrophy ;   Arylsulfatase A Deficiencies ;   Arylsulfatase A Deficiency ;   Arylsulfatase A Deficiency Disease ;   Cerebral sclerosis, Diffuse, Metachromatic Form ;   Cerebroside Sulfatase Deficiencies ;   Cerebroside Sulfatase Deficiency ;   Cerebroside Sulphatase Deficiency Disease ;   Greenfield Disease ;   Greenfield's Disease ;   Infant Metachromatic Leukodystrophies ;   Infant Metachromatic Leukodystrophy ;   Infant-Type Metachromatic Leukodystrophies ;   Infant-Type Metachromatic Leukodystrophy ;   Juvenile Metachromatic Leukodystrophies ;   Juvenile-Type Metachromatic Leukodystrophies ;   Juvenile-Type Metachromatic Leukodystrophy ;   MLD ;   Metachromatic Leukodystrophies ;   Metachromatic Leukoencephalopathies ;   Metachromatic Leukoencephalopathy ;   Scholz cerebral sclerosis ;   Sulfatide Lipidosis ;   deficiency of cerebroside-sulfatase ;   sulfatide lipoidosis
Narrow Synonyms: CEREBROSIDE SULFATASE DEFICIENCY PSEUDOARYLSULFATASE A DEFICIENCY ;   METACHROMATIC LEUKODYSTROPHY, ADULT ;   METACHROMATIC LEUKODYSTROPHY, JUVENILE ;   METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE ;   METACHROMATIC LEUKODYSTROPHY, MILD ;   METACHROMATIC LEUKODYSTROPHY, SEVERE
Related Synonyms: ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE ;   Arylsulfatase A Pseudodeficiency ;   METACHROMATIC LEUKODYSTROPHY VARIANT
Primary IDs: MESH:D007966 ;   RDO:0004525
Alternate IDs: OMIM:250100
Xrefs: GARD:3230 ;   ICD10CM:E75.25 ;   NCI:C61251 ;   ORDO:512
Definition Sources: http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy "DO", http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy "DO", MESH:D007966

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.