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Orphanet Rare Disease Ontology
| Preferred Name | Metachromatic leukodystrophy | |
| Synonyms |
Arylsulfatase A deficiency MLD |
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| Definitions |
A rare lysosomal disease characterized by accumulation of sulfatides in the central and peripheral nervous system due to deficiency of the enzyme arylsulfatase A, leading to demyelination. Three clinical subtypes can be distinguished based on the age of onset: late infantile, juvenile, and adult. Lead symptoms are deterioration in motor or cognitive function or behavioral problems, depending on the subtype, all eventually culminating in a decerebrated state and death after a highly variable disease course and duration. Mode of inheritance is autosomal recessive. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_512 |
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| alternative_term |
Arylsulfatase A deficiency MLD
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|
| definition |
A rare lysosomal disease characterized by accumulation of sulfatides in the central and peripheral nervous system due to deficiency of the enzyme arylsulfatase A, leading to demyelination. Three clinical subtypes can be distinguished based on the age of onset: late infantile, juvenile, and adult. Lead symptoms are deterioration in motor or cognitive function or behavioral problems, depending on the subtype, all eventually culminating in a decerebrated state and death after a highly variable disease course and duration. Mode of inheritance is autosomal recessive.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=512 |
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| has_age_of_onset |
Adolescent Adult Childhood Infancy
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| has_inheritance |
Autosomal recessive
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| hasDbXref |
OMIM:249900 UMLS:C0023522 MeSH:D007966 ICD-10:E75.2 OMIM:156310 ICD-11:5C56.02 OMIM:250100 MedDRA:10067609
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| label |
Metachromatic leukodystrophy
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| notation |
ORPHA:512
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| part_of |
http://www.orpha.net/ORDO/Orphanet_98543 http://www.orpha.net/ORDO/Orphanet_441434 http://www.orpha.net/ORDO/Orphanet_79225 http://www.orpha.net/ORDO/Orphanet_207018 http://www.orpha.net/ORDO/Orphanet_371442 |
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| prefixIRI |
ORDO:Orphanet_512
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| prefLabel |
Metachromatic leukodystrophy
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| present_in |
Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 1.47 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000 Australia AND has_birth_prevalence_average_value : 1.09 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_range : 1-9 / 100 000 Turkey AND has_birth_prevalence_average_value : 1.43 AND has_birth_prevalence_range : 1-9 / 100 000 Czech Republic AND has_birth_prevalence_average_value : 0.69 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 1.73 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 1.85 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 1.42 AND has_birth_prevalence_range : 1-9 / 100 000
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| treeView |
http://www.orpha.net/ORDO/Orphanet_98543 http://www.orpha.net/ORDO/Orphanet_441434 http://www.orpha.net/ORDO/Orphanet_79225 http://www.orpha.net/ORDO/Orphanet_207018 http://www.orpha.net/ORDO/Orphanet_371442 |
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| subClassOf |
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