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ORPHA:79271

Sanfilippo syndrome type C

high confidenceSubtype of disorder

Also known as: HGSNAT deficiency · Heparan-alpha-glucosaminide N-acetyltransferase deficiency · MPS3C · MPSIIIC · Mucopolysaccharidosis type 3C · Mucopolysaccharidosis type IIIC

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

415

82.9th percentile

Trials

0

Interventional, condition-specific

Researchers

1,560

Distinct authors in sample

Gene link

HGSNAT

Definitive

Readiness

2/6

Stages with a signal

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

MPS III C · Sanfilippo C · heparan-alpha-glucosaminide N-acetyltransferase deficiency · mucopolysaccharidosis type 3C · mucopolysaccharidosis type IIIC

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.”

2/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — HGSNAT

  2. LiteraturePresent

    415 matched papers (267 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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 (HGSNAT).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

415

415 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=5449) is 41.

415 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

267 in the last 10 years · high confidence · 82.9th percentile (publications denominator)

Phrase hits: 415 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,560

Distinct author names in 200 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
    Sanfilippo C61 papers · 2026

    Neurologic Unit, AOU "Policlinico-San Marco", Department of Medical, Surgical Sciences and Advanced Technologies, GF, Ingrassia, University of Catania, Via Santa Sofia N.78, 95100, Catania, Sicily, Italy.

    Papers in Europe PMC
  2. 02
    Di Rosa M21 papers · 2026

    Department of Biomedical and Biotechnological Sciences, Human Anatomy and Histology Section, School of Medicine, University of Catania, Catania, Italy. chitotriosidase@gmail.com.

    Papers in Europe PMC
  3. 03
    Imbesi R17 papers · 2026

    Department of Biomedical and Biotechnological Sciences, Human Anatomy and Histology Section, School of Medicine, University of Catania, Catania, Italy.

    Papers in Europe PMC
  4. 04
    Castrogiovanni P16 papers · 2026

    Department of Biomedical and Biotechnological Sciences, Human Anatomy and Histology Section, School of Medicine, University of Catania, Catania, Italy.

    Papers in Europe PMC
  5. 05
    Pshezhetsky AV16 papers · 2025

    Department of Paediatrics, Sainte-Justine Hospital Research Center, Université de Montréal, Montreal, H3T 1C5, QC, Canada. alexei.pchejetski@umontreal.ca.

    Papers in Europe PMC
  6. 06
    Musumeci G11 papers · 2025

    Department of Biomedical and Biotechnological Sciences, Human Anatomy and Histology Section, School of Medicine, University of Catania, Via S. Sofia, 97 95125, Catania, Italy.

    Papers in Europe PMC
  7. 07
    Frazzetto M9 papers · 2026

    Division of Cardiology, A.O.U. 'G. Rodolico-San Marco' Polyclinic, Catania, Italy.

    Papers in Europe PMC
  8. 08
    Patti A9 papers · 2025

    CNR-Istituto di Chimica Biomolecolare, Via Paolo Gaifami 18, I-95126 Catania, Italy.

    Papers in Europe PMC
  9. 09
    Grasso C8 papers · 2026

    Division of Cardiology, A.O.U. Policlinico "G. Rodolico San Marco", 95123 Catania, Italy.

    Papers in Europe PMC
  10. 10
    Tamburino C8 papers · 2026

    Division of Cardiology, A.O.U. 'G. Rodolico-San Marco' Polyclinic, Catania, Italy.

    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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

Observational and natural-history studies

2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Sanfilippo syndrome type C" OR "HGSNAT deficiency" OR "Heparan-alpha-glucosaminide N-acetyltransferase deficiency" OR "MPS3C" OR "MPSIIIC" OR "Mucopolysaccharidosis type 3C" OR "Mucopolysaccharidosis type IIIC" OR "MPS III C" OR "Sanfilippo C"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Sanfilippo syndrome type C" OR "HGSNAT deficiency" OR "Heparan-alpha-glucosaminide N-acetyltransferase deficiency" OR "MPS3C" OR "MPSIIIC" OR "Mucopolysaccharidosis type 3C" OR "Mucopolysaccharidosis type IIIC" OR "MPS III C" OR "Sanfilippo C" OR "HGSNAT"

Recall-expansion terms: HGSNAT

Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T02:10:51.167Z