mucopolysaccharidosis type 9
Findings
No curated finding names mucopolysaccharidosis type 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.
Definition from the Mondo Disease Ontology (MONDO:0011093), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
19 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.
- Acetabular erosionsHPOHP:0033640
- 1 of 1 reported patient
- Bifid uvulaHPOHP:0000193
- 1 of 1 reported patient
- ChondrocalcinosisHPOHP:0000934
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Diminished circulating hyaluronidase activityHPOHP:6000969
- 1 of 1 reported patient
- Knee painHPOHP:0030839
- 3 of 3 reported patients
- Periarticular soft-tissue massHPOHP:0020127
Show the remaining 7
- Abnormal acetabulum morphologyHPOHP:0003170
- Very frequent (80% to 99% of cases)
- Ankle painHPOHP:0030840
- 1 of 3 reported patients
- Finger joint hypermobilityHPOHP:0006094
- 1 of 3 reported patients
- Hip painHPOHP:0030838
- 1 of 3 reported patients
- Hyperextensibility at elbowHPOHP:0010485
- 1 of 3 reported patients
- Lumbar scoliosisHPOHP:0004626
- 1 of 3 reported patients
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.
- HYAL1HGNC:5320
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · ClinGen · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Natera · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: mucopolysaccharidosis type 9
- Also called
- MPS9MPSIXmucopolysaccharidosis type IX