Mucopolysaccharidosis type 1

Orpha code: 579OMIM code: 607016

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
Alpha-L-iduronidase deficiency
MPS1
MPSI
Mukopolisacharydoza typu I
Niedobór alfa-L-iduronidazy
MPS1
MPSI
Mucopolysaccharidosis type I
Kod ORPHA
579
Kod OMIM
607016
Kod ICD10
E76.0
Kod ICD11
5C56.30

No additional description.

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