Mucopolysaccharidosis type 1

General Information (adopted from Orphanet):

Synonyms, Signs: MPS1
Alpha-L-iduronidase deficiency
Number of Symptoms 0
OrphanetNr: 579
OMIM Id: 607014
ICD-10: E76.0
UMLs: C0023786
MeSH: D008059
MedDRA: 10056886
Snomed: 75610003

Prevalence, inheritance and age of onset:

Prevalence: 1
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Eyebrow hypertrophy
 -Rare eye disease
 -Rare genetic disease
Lysosomal storage disease with skeletal involvement
 -Rare bone disease
 -Rare genetic disease
Metabolic disease with corneal opacity
 -Rare eye disease
 -Rare genetic disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease


This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level. Mucopolysaccharidosis type 1 comprises the following Phenodis entries: Phenodis:7364 Hurler syndrome Orphanet:93473; Phenodis:7365 Scheie syndrome Orphanet:93474; Phenodis:7366 Hurler-Scheie syndrome Orphanet:93476;

Symptom Information: Sort by abundance 

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: