Scheie syndrome
Findings
No curated finding names Scheie syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
Definition from the Mondo Disease Ontology (MONDO:0011760), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
21 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.
- Aortic valve stenosisHPOHP:0001650
- 1 of 1 reported patient
- Corneal opacityHPOHP:0007957
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Mitral stenosisHPOHP:0001718
- 1 of 1 reported patient
- Abnormal nerve conduction velocityHPOHP:0040129
- Very frequent (80% to 99% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Very frequent (80% to 99% of cases)
- Aortic regurgitationHPOHP:0001659
- Very frequent (80% to 99% of cases)
Show the remaining 9
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
- SplenomegalyHPOHP:0001744
- Frequent (30% to 79% of cases)
- Thick vermilion borderHPOHP:0012471
- Frequent (30% to 79% of cases)
- Joint stiffnessHPOHP:0001387
- Occasional (5% to 29% of cases)
- RhinitisHPOHP:0012384
- Occasional (5% to 29% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Occasional (5% to 29% 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 · G2P · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: Scheie syndrome
- Also called
- MPS I SMPS1SMPSISmucopolysaccharidosis type 1Smucopolysaccharidosis type IS