Mucopolysaccharidosis type 1

Orpha code: 579OMIM code: 607016

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.

Disease data
Classification

Disease

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

No additional description.

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