ORPHA:67041
Hyaluronidase deficiency
Also known as: MPS9 · MPSIX · Mucopolysaccharidosis type 9 · Mucopolysaccharidosis type IX
Clinical definition (Orphanet)
A rare form of mucopolysaccharidosis characterized by abnormal storage of hyaluronan in lysosomes due to deficiency of hyaluronidase 1. Clinical manifestations include knee and/or hip pain associated with swelling, diffuse joint involvement with proliferative synovitis and occurrence of multiple periarticular soft-tissue masses, short stature, and craniofacial features (such as flattened nasal bridge, bifid uvula, and cleft palate).
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Is anyone studying this?
179
179 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
179 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
112 in the last 10 years · low confidence
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
low confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (HYAL1).
GenCC classification: Definitive.
Who's working on it?
1,213
Distinct author names in 179 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Triggs-Raine B7 papers · 2024
Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, MB R3E OW3, Canada. traine@ms.umanitoba.ca
Papers in Europe PMC - 02Gaffke L6 papers · 2025
Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Papers in Europe PMC - 03Pierzynowska K6 papers · 2025
Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Papers in Europe PMC - 04Węgrzyn G6 papers · 2025
Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Papers in Europe PMC - 05Cyske Z4 papers · 2025
Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Papers in Europe PMC - 06Ginsburg D4 papers · 2014
Howard Hughes Medical Institute, Chevy Chase, MD; and Departments of Internal Medicine, Human Genetics, and Pediatrics, University of Michigan, Ann Arbor, MI.
Papers in Europe PMC - 07Giugliani R4 papers · 2022
Medical Genetics Service, HCPA, Dep. Genetics, UFRGS, and INAGEMP, Porto Alegre, Brazil.
Papers in Europe PMC - 08Byers S3 papers · 2008Papers in Europe PMC
- 09Garantziotis S3 papers · 2022
National Institute of Environmental Health Services, Durham, NC, USA.
Papers in Europe PMC - 10Muro S3 papers · 2024
Institute for Bioengineering of Catalonia (IBEC), Barcelona Institute for Science and Technology (BIST), Barcelona 08028, Spain; Institute of Catalonia for Research and Advanced Studies (ICREA), Barcelona 08010, Spain; Institute for Bioscience and Biotechnology Research, University of Maryland, College Park, MD 20742, USA; Department of Chemical and Biomolecular Engineering, University of Maryland, College Park, MD 20742, USA. Electronic address: smuro@ibecbarcelona.eu.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Hyaluronidase deficiency" OR "MPSIX" OR "Mucopolysaccharidosis type 9" OR "Mucopolysaccharidosis type IX"
MeSH descriptor terms unioned into the query: Hyaluronidase Deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hyaluronidase deficiency" OR "MPSIX" OR "Mucopolysaccharidosis type 9" OR "Mucopolysaccharidosis type IX" OR "HYAL1"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C563209 OMIM:601492 UMLS:C1291490 NCIT:C129073
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MPS9
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus