mucopolysaccharidosis type 6
Findings
No curated finding names mucopolysaccharidosis type 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.
Definition from the Mondo Disease Ontology (MONDO:0009661), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
56 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.
- Coarse facial featuresHPOHP:0000280
- 28 of 28 reported patients
- Very frequent (80% to 99% of cases)
- Corneal opacityHPOHP:0007957
- 28 of 28 reported patients
- Flexion contractureHPOHP:0001371
- 28 of 28 reported patients
- Short statureHPOHP:0004322
- 28 of 28 reported patients
- Mitral regurgitationHPOHP:0001653
- 27 of 28 reported patients
- HirsutismHPOHP:0001007
- 26 of 28 reported patients
- Thickened skin
Show the remaining 44
- Chronic otitis mediaHPOHP:0000389
- Very frequent (80% to 99% of cases)
- Disproportionate short-trunk short statureHPOHP:0003521
- Very frequent (80% to 99% of cases)
- Epiphyseal dysplasiaHPOHP:0002656
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- MucopolysacchariduriaHPOHP:0008155
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.
- ARSBHGNC:714
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Illumina · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
11 names
Resolves to: mucopolysaccharidosis type 6
- Also called
- ARSB deficiencyarylsulfatase B deficiencyASB deficiencyMaroteaux Lamy SyndromeMaroteaux-Lamy diseaseMaroteaux-Lamy syndromeMPS6MPSVImucopolysaccharidosis type VImucopolysaccharidosis type VI (Maroteaux-Lamy)N-acetylgalactosamine 4-sulfatase deficiency