Hurler syndrome

Orpha code: 93473OMIM code: 607014

Definition

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

Disease data
Classification

Clinical subtype

Synonyms
Hurler disease
Choroba Hurler
MPS1H
MPSIH
Mukopolisacharydoza typu 1H
Mukopolisacharydoza typu IH
MPS1H
MPSIH
Mucopolysaccharidosis type 1H
Mucopolysaccharidosis type IH
ORPHA code
93473
OMIM code
607014
ICD10 code
E76.0
ICD11 code
-

No additional description.

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