loading...| Preferred Name |
Mucopolysaccharidosis type 1 |
|
| Synonyms |
MPS1 |
|
| Definitions |
Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_579 |
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| alternative_term |
MPS1 MPSI Mucopolysaccharidosis type I Alpha-L-iduronidase deficiency |
|
| definition |
Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype. |
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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=579 |
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| has_age_of_onset |
All ages |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
MeSH:D008059 MedDRA:10056886 ICD-10:E76.0 OMIM:607014 OMIM:607016 OMIM:607015 ICD-11:5C56.30 UMLS:C0023786 |
|
| label |
Mucopolysaccharidosis type 1 |
|
| notation |
ORPHA:579 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_93448 http://www.orpha.net/ORDO/Orphanet_611314 |
|
| prefixIRI |
ORDO:Orphanet_579 |
|
| prefLabel |
Mucopolysaccharidosis type 1 |
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| present_in |
Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 0.34 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 Poland AND has_birth_prevalence_average_value : 0.22 AND has_birth_prevalence_range : 1-9 / 1 000 000 Norway AND has_birth_prevalence_average_value : 1.85 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 0.23 AND has_birth_prevalence_range : 1-9 / 1 000 000 Korea, Republic of AND has_birth_prevalence_average_value : 0.21 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_average_value : 8.7 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 1.19 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 31.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 0.82 AND has_birth_prevalence_range : 1-9 / 1 000 000 Australia AND has_birth_prevalence_average_value : 1.14 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_birth_prevalence_average_value : 0.54 AND has_birth_prevalence_range : 1-9 / 1 000 000 Saudi Arabia AND has_birth_prevalence_average_value : 3.62 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 1.33 AND has_birth_prevalence_range : 1-9 / 100 000 Tunisia AND has_birth_prevalence_average_value : 0.63 AND has_birth_prevalence_range : 1-9 / 1 000 000 Canada AND has_birth_prevalence_average_value : 0.58 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 1.07 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000 Israel AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Czech Republic AND has_birth_prevalence_average_value : 0.72 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_average_value : 7.4 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Ireland AND has_birth_prevalence_average_value : 3.8 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 0.19 AND has_birth_prevalence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 0.11 AND has_birth_prevalence_range : 1-9 / 1 000 000 Brazil AND has_birth_prevalence_average_value : 0.24 AND has_birth_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 0.69 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_93448 http://www.orpha.net/ORDO/Orphanet_611314 |
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| subClassOf |