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Leukodystrophy, Metachromatic

Go to external page http://purl.bioontology.org/ontology/MESH/D007966

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.

Term info

Label

Leukodystrophy, Metachromatic

Synonyms
  • ARSA Deficiencies
  • ARSA Deficiency
  • Adult Metachromatic Leukodystrophies
  • Adult Metachromatic Leukodystrophy
  • Adult-Type Metachromatic Leukodystrophies
  • Adult-Type Metachromatic Leukodystrophy
  • Arylsulfatase A Deficiencies
  • Arylsulfatase A Deficiency
  • Arylsulfatase A Deficiency Disease
  • Arylsulfatase-A-Mangelkrankheit (DE)
  • Cerebral sclerosis, Diffuse, Metachromatic Form
  • Cerebroside Sulfatase Deficiencies
  • Cerebroside Sulfatase Deficiency
  • Cerebroside Sulphatase Deficiency Disease
  • Deficiencies, ARSA
  • Deficiencies, Arylsulfatase A
  • Deficiencies, Cerebroside Sulfatase
  • Deficiency, ARSA
  • Deficiency, Arylsulfatase A
  • Deficiency, Cerebroside Sulfatase
  • Greenfield Disease
  • Greenfield's Disease
  • Infant Metachromatic Leukodystrophies
  • Infant Metachromatic Leukodystrophy
  • Infant-Type Metachromatic Leukodystrophies
  • Infant-Type Metachromatic Leukodystrophy
  • Juvenile Metachromatic Leukodystrophies
  • Juvenile Metachromatic Leukodystrophy
  • Juvenile-Type Metachromatic Leukodystrophies
  • Juvenile-Type Metachromatic Leukodystrophy
  • Leukodystrophie, metachromatische (DE)
  • Leukodystrophies, Adult Metachromatic
  • Leukodystrophies, Adult-Type Metachromatic
  • Leukodystrophies, Juvenile Metachromatic
  • Leukodystrophies, Juvenile-Type Metachromatic
  • Leukodystrophies, Metachromatic
  • Leukodystrophy, Adult Metachromatic
  • Leukodystrophy, Adult-Type Metachromatic
  • Leukodystrophy, Juvenile Metachromatic
  • Leukodystrophy, Juvenile-Type Metachromatic
  • Leukodystrophy, Metachromatic, Adult
  • Leukodystrophy, Metachromatic, Juvenile
  • Leukoencephalopathies, Metachromatic
  • Leukoencephalopathy, Metachromatic
  • Lipidosis, Sulfatide
  • Metachromatic Leukodystrophies
  • Metachromatic Leukodystrophies, Adult
  • Metachromatic Leukodystrophies, Adult-Type
  • Metachromatic Leukodystrophies, Infant
  • Metachromatic Leukodystrophies, Infant-Type
  • Metachromatic Leukodystrophies, Juvenile
  • Metachromatic Leukodystrophies, Juvenile-Type
  • Metachromatic Leukodystrophy
  • Metachromatic Leukodystrophy, Adult
  • Metachromatic Leukodystrophy, Adult Type
  • Metachromatic Leukodystrophy, Adult-Type
  • Metachromatic Leukodystrophy, Infant
  • Metachromatic Leukodystrophy, Infant Type
  • Metachromatic Leukodystrophy, Infant-Type
  • Metachromatic Leukodystrophy, Juvenile
  • Metachromatic Leukodystrophy, Juvenile Type
  • Metachromatic Leukodystrophy, Juvenile-Type
  • Metachromatic Leukodystrophy, Late Infantile
  • Metachromatic Leukoencephalopathies
  • Metachromatic Leukoencephalopathy
  • Sulfatase Deficiencies, Cerebroside
  • Sulfatase Deficiency, Cerebroside
  • Sulfatide Lipidosis
  • Zerebrosid-Sulfatase-Mangelkrankheit (DE)
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

19740101

FX

D002553

HN

1974

MDA

19990101

MMR

20130708

MN

C18.452.648.189.435.825.850.500, C10.228.140.695.625.550, C16.320.565.595.554.825.850.500, C18.452.584.687.803.925.500, C18.452.132.100.362.550, C16.320.565.189.362.550, C10.314.400.550, C10.228.140.163.100.435.825.850.500, C18.452.648.398.641.803.925.500, C18.452.132.100.435.825.850.500, C16.320.565.189.435.825.850.500, C10.228.140.163.100.362.550, C16.320.565.398.641.803.925.500, C18.452.648.189.362.550, C18.452.648.595.554.825.850.500

PM

1974

QB

http://purl.bioontology.org/ontology/MESH/Q000097, http://purl.bioontology.org/ontology/MESH/Q000175, http://purl.bioontology.org/ontology/MESH/Q000196, http://purl.bioontology.org/ontology/MESH/Q000150, http://purl.bioontology.org/ontology/MESH/Q000191, http://purl.bioontology.org/ontology/MESH/Q000139, http://purl.bioontology.org/ontology/MESH/Q000534, http://purl.bioontology.org/ontology/MESH/Q000532, http://purl.bioontology.org/ontology/MESH/Q000378, http://purl.bioontology.org/ontology/MESH/Q000235, http://purl.bioontology.org/ontology/MESH/Q000652, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000453, http://purl.bioontology.org/ontology/MESH/Q000134, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000473, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000451, http://purl.bioontology.org/ontology/MESH/Q000517, http://purl.bioontology.org/ontology/MESH/Q000382, http://purl.bioontology.org/ontology/MESH/Q000469, http://purl.bioontology.org/ontology/MESH/Q000601, http://purl.bioontology.org/ontology/MESH/Q000821, http://purl.bioontology.org/ontology/MESH/Q000523, http://purl.bioontology.org/ontology/MESH/Q000401, http://purl.bioontology.org/ontology/MESH/Q000201, http://purl.bioontology.org/ontology/MESH/Q000145, http://purl.bioontology.org/ontology/MESH/Q000266, http://purl.bioontology.org/ontology/MESH/Q000662, http://purl.bioontology.org/ontology/MESH/Q000188, http://purl.bioontology.org/ontology/MESH/Q000628, http://purl.bioontology.org/ontology/MESH/Q000209, http://purl.bioontology.org/ontology/MESH/Q000208, http://purl.bioontology.org/ontology/MESH/Q000503

RO

http://purl.bioontology.org/ontology/MESH/D002553

SIB

http://purl.bioontology.org/ontology/MESH/D020371, http://purl.bioontology.org/ontology/MESH/D038261, http://purl.bioontology.org/ontology/MESH/D000326, http://purl.bioontology.org/ontology/MESH/D052517, http://purl.bioontology.org/ontology/MESH/D007965, http://purl.bioontology.org/ontology/MESH/D017825

TERMUI

T816770, T647466, T647465, T647464, T647463, T812427, T023746, T812428, T368965, T023748, T812429, T368964, T023749, T368961, T368960, T751428, T751427, T811706, T751426, T751425, T368968

TH

NLM (2007), GHR (2014), NLM (1992), ORD (2010), OMIM (2013), NLM (2000), NLM (2010), NLM (1974)

cui

C0751279, C2713319, C0023522, C0751278, C0751276

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C564449, http://purl.bioontology.org/ontology/MESH/C563587, http://purl.bioontology.org/ontology/MESH/C565403, http://purl.bioontology.org/ontology/MESH/C562609, http://purl.bioontology.org/ontology/MESH/C567125

tui

T047