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ORPHA:67041

Hyaluronidase deficiency

low confidenceDisorder

Also known as: MPS9 · MPSIX · Mucopolysaccharidosis type 9 · Mucopolysaccharidosis type IX

Publications

1,835

Trials

0

Interventional, condition-specific

Researchers

1,213

Distinct authors in sample

Gene link

HYAL1

Definitive

Readiness

4/6

Stages with a signal

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

mucopolysaccharidosis type 9 · mucopolysaccharidosis type IX

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — HYAL1

  2. LiteraturePresent

    1,835 matched papers (1,235 in last 10 years) Source

  3. Phenotype characterisedPresent

    20 HPO annotations (e.g. Abnormal acetabulum morphology; Submucous cleft hard palate; Short stature) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (HYAL1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

20

Associated phenotypes · MONDO:0011093

  • Abnormal acetabulum morphology
  • Submucous cleft hard palate
  • Short stature
  • Ankle pain
  • Bifid uvula

Showing 5 of 20 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-27

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,835

1,835 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,835 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,235 in the last 10 years · low confidence

Phrase hits: 179 · MeSH hits: 3

Open Europe PMC search

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.

  1. 01
    Triggs-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
  2. 02
    Gaffke L6 papers · 2025

    Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.

    Papers in Europe PMC
  3. 03
    Pierzynowska K6 papers · 2025

    Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.

    Papers in Europe PMC
  4. 04
    Węgrzyn G6 papers · 2025

    Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.

    Papers in Europe PMC
  5. 05
    Cyske Z4 papers · 2025

    Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.

    Papers in Europe PMC
  6. 06
    Ginsburg 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
  7. 07
    Giugliani R4 papers · 2022

    Medical Genetics Service, HCPA, Dep. Genetics, UFRGS, and INAGEMP, Porto Alegre, Brazil.

    Papers in Europe PMC
  8. 08
    Byers S3 papers · 2008
    Papers in Europe PMC
  9. 09
    Garantziotis S3 papers · 2022

    National Institute of Environmental Health Services, Durham, NC, USA.

    Papers in Europe PMC
  10. 10
    Muro 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

Clinical research

Is a treatment being tested?

0

interventional 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 9 September 2026 · last trial check 9 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

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 — people publishing on this disease are often the practical next contact when no trial is listed.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 3 · fetched 2026-07-27

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Hyaluronidase deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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 on the overview but are not added to the query string.

("Hyaluronidase deficiency" OR "MPSIX" OR "Mucopolysaccharidosis type 9" OR "Mucopolysaccharidosis type IX") OR (MESH:"Hyaluronidase Deficiency") OR ("HYAL1" OR "HYAL1 syndrome" OR "HYAL1-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; 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
  • Publication count (1835) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T01:45:47.940Z