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Leukodystrophy, Metachromatic (CUI C0023522) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0023522

NCI Thesaurus Code: C61251  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An autosomal recessive inherited disorder characterized by abnormalities in the development of the myelin sheaths. It is caused by a deficiency of the enzyme arylsulfatase A. There are three forms of this disease: late infantile, juvenile, and adult. In the late infantile form symptoms include muscle weakness and rigidity, gait disturbances, developmental delays, and seizures. In the juvenile form symptoms include gait disturbances, mental deterioration and seizures. The adult form is characterized by psychotic symptoms and dementia.

GARD 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.

- this information is from GARD/ORDR/NCATS.

CSP Definition: autosomal recessive lysosomal storage disease caused by a deficiency of cerebroside sulfatase leading to an accumulation of cerebroside sulfate in the nervous system and other organs.

MSH Definition: 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.

Synonyms & Abbreviations: (see Synonym Details)
ARSA deficiency
ARYLSULFATASE A DEFIC DIS
Arylsulfatase A Deficiency Disease
Arylsulfatase A deficiency
Cerebral sclerosis diffuse metachromatic form
Cerebral sclerosis, Diffuse, Metachromatic Form
Cerebroside sulfatase deficiency
CEREBROSIDE SULPHATASE DEFIC DIS
Cerebroside Sulphatase Deficiency Disease
Familial progressive cerebral sclerosis
Leukodystrophies, Metachromatic
Leukodystrophy metachromatic
Leukodystrophy, Metachromatic [Disease/Finding]
Leukodystrophy, Metachromatic
Leukoencephalopathies, Metachromatic
LEUKOENCEPHALOPATHY, METACHROMATIC
Lipidosis, Sulfatide
Metachromatic leucodystrophy (disorder)
metachromatic leucodystrophy
Metachromatic Leukodystrophies
metachromatic leukodystrophy
Metachromatic Leukoencephalopathies
metachromatic leukoencephalopathy
metachromatic leukoencephaly
MLD - Metachromatic leucodystrophy
MLD
Scholz cerebral sclerosis
Scholz-Bielschowsky-Henneberg diffuse cerebral sclerosis
Sulfatide lipidosis
sulfatide lipoidosis
Sulphatide lipidosis
van Bogaert-Nijssen disease

External Source Codes: 
NCI Thesaurus Code C61251 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
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 MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
Contributing_Source CTRP NCI
CTV3ID XUY1t SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-5593 CSP
DISEASE_IDENTIFIER_ID 11407 GARD
DISEASE_IDENTIFIER_ID 11408 GARD
DISEASE_IDENTIFIER_ID 11409 GARD
DISEASE_IDENTIFIER_ID 11410 GARD
DISEASE_IDENTIFIER_ID 11411 GARD
DISEASE_IDENTIFIER_ID 11412 GARD
DISEASE_IDENTIFIER_ID 11413 GARD
DISEASE_IDENTIFIER_ID 11414 GARD
DX 19740101 MSH
EFFECTIVE_TIME 20030731 SNOMEDCT_US
FX D002553 MSH
GENELOCUS ,2,2,q,1,3,.,3,1,-,q,t,e,r, OMIM
GENESYMBOL ARSA OMIM
HAS_GARD_PAGE true GARD
HN 1974 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Related Disease Added GARD
LAST_REVIEW_DATE 2010-01-29T00:00:00 GARD
MDA 19990101 MSH
MESH_DEFINITION 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. NDFRT
MESH_DUI D007966 NDFRT
MESH_NAME Leukodystrophy, Metachromatic NDFRT
MESH_UI M0012416 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C10.228.140.163.100.362.550 MSH
MN C10.228.140.163.100.435.825.850.500 MSH
MN C10.228.140.695.625.550 MSH
MN C10.314.400.550 MSH
MN C16.320.565.189.362.550 MSH
MN C16.320.565.189.435.825.850.500 MSH
MN C16.320.565.398.641.803.925.500 MSH
MN C16.320.565.595.554.825.850.500 MSH
MN C18.452.132.100.362.550 MSH
MN C18.452.132.100.435.825.850.500 MSH
MN C18.452.584.687.803.925.500 MSH
MN C18.452.648.189.362.550 MSH
MN C18.452.648.189.435.825.850.500 MSH
MN C18.452.648.398.641.803.925.500 MSH
MN C18.452.648.595.554.825.850.500 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001834 NDFRT
ORDER_NO 04648 ICD10CM
PM 1974 MSH
PRIMARY_PATH 10067609$10024579$10027424$10010331$Metachromatic leukodystrophy$Lysosomal storage disorders$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/3230/metachromatic-leukodystrophy/resources/1 GARD
RXAUI 3111812 RXNORM
RXAUI 3131839 RXNORM
RXAUI 3189222 RXNORM
RXAUI 3189223 RXNORM
RXAUI 3241443 RXNORM
RXAUI 3286927 RXNORM
RXAUI 3288019 RXNORM
RXAUI 5039637 RXNORM
RXCUI 1026960 RXNORM
SMQ_TERM_ADDVERSION 10.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 238031009 NDFRT
SNOMED_CID 396338004 NDFRT
SNOMED_CID 66521008 NDFRT
SNOMEDID D6-6005C SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E75.2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E75.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E75.25 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E75.25 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUY1t SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D6-6005C SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T023746 MSH
TERMUI T368960 MSH
TERMUI T368961 MSH
TERMUI T368968 MSH
TERMUI T751425 MSH
TERMUI T751426 MSH
TERMUI T811706 MSH
TH GHR (2014) MSH
TH NLM (1974) MSH
TH NLM (2000) MSH
TH NLM (2010) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0023522

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