metachromatic leukodystrophy, juvenile form

Go to external page http://purl.obolibrary.org/obo/MONDO_0009591


Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes. [ GARD:0003230 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:238031009 (MONDO:equivalentTo)
  • GARD:0004545 (MONDO:equivalentTo)
  • GARD:0003230 (MONDO:equivalentTo)
  • ICD10:E75.2 (Orphanet:309263)
  • OMIM:250100 (MONDO:equivalentTo)
  • Orphanet:309263 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype

closeMatch

http://www.orpha.net/ORDO/Orphanet_751

http://linkedlifedata.com/resource/umls/id/C0751278

http://linkedlifedata.com/resource/umls/id/C1855255

definition

Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.

exactMatch

http://identifiers.org/omim/250100

http://identifiers.org/snomedct/238031009

http://linkedlifedata.com/resource/umls/id/C0751276

http://www.orpha.net/ORDO/Orphanet_309263

has exact synonym

arylsulfatase A deficiency, juvenile form

MLD, juvenile form

has related synonym

metachromatic leukodystrophy

metachromatic leukodystrophy, adult

metachromatic leukodystrophy, late infantile

ARSA deficiency

leukodystrophy metachromatic

cerebroside sulfatase deficiency

MLD

Mld

arylsulfatase A deficiency

pseudoarylsulfatase A deficiency

metachromatic leukodystrophy, juvenile

sulfatide lipidosis

cerebral sclerosis diffuse metachromatic form

cerebral sclerosis, diffuse, metachromatic form

metachromatic leukoencephalopathy

id

MONDO:0009591