mucopolysaccharidosis type 1
Findings
No curated finding names mucopolysaccharidosis type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).
Definition from the Mondo Disease Ontology (MONDO:0001586), read 2026-09-29. CC BY 4.0.
Features
57 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- Abnormality of the voiceHPOHP:0001608
- Very frequent (80% to 99% of cases)
- Chronic otitis mediaHPOHP:0000389
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- Corneal opacityHPOHP:0007957
- Very frequent (80% to 99% of cases)
- Generalized hirsutismHPOHP:0002230
- Very frequent (80% to 99% of cases)
- HerniaHPOHP:0100790
- Very frequent (80% to 99% of cases)
- Inguinal herniaHPOHP:0000023
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- MucopolysacchariduriaHPOHP:0008155
- Very frequent (80% to 99% of cases)
Show the remaining 45
- ScoliosisHPOHP:0002650
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- SinusitisHPOHP:0000246
- Very frequent (80% to 99% of cases)
- SplenomegalyHPOHP:0001744
- Very frequent (80% to 99% of cases)
- Split handHPOHP:0001171
- Very frequent (80% to 99% of cases)
- Abnormal hip bone morphologyHPOHP:0003272
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IDUAHGNC:5391
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- Narrower terms (3)
Other names
5 names
Resolves to: mucopolysaccharidosis type 1
- Also called
- Alpha-L-iduronidase deficiencylipochondrodystrophyMPS1MPSIMucopolysaccharidosis Type I