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ORPHA:93476

Hurler-Scheie syndrome

high confidenceSubtype of disorder

Also known as: MPS1H/S · MPSIH/S · Mucopolysaccharidosis type 1H/S · Mucopolysaccharidosis type IH/S

Publications

347

77.7th percentile

Trials

13

Interventional, condition-specific

Researchers

1,165

Distinct authors in sample

Gene link

IDUA

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

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 (4)

MPS I H-S · mucopolysaccharidosis type 1H/S · mucopolysaccharidosis type IH/S · mucopolysaccharidosis, mps-I-s

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — IDUA

  2. LiteraturePresent

    347 matched papers (188 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 trialPresent

    13 matched on ClinicalTrials.gov

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 (IDUA).

GenCC classification: Strong.

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?

347

347 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.

347 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).

188 in the last 10 years · high confidence · 77.7th percentile (publications denominator)

Phrase hits: 347 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,165

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Giugliani R7 papers · 2026

    Department of Genetics UFRGS and INAGEMP, Medical Genetics Service/HCPA, Porto Alegre, Rio Grande do Sul, Brazil.

    Papers in Europe PMC
  2. 02
    Whitley CB7 papers · 2026

    Department of Pediatrics University of Minnesota Minneapolis Minnesota USA.

    Papers in Europe PMC
  3. 03
    Jones S5 papers · 2020

    Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, Oxford Road, Manchester, United Kingdom.

    Papers in Europe PMC
  4. 04
    Martins AM5 papers · 2024

    Reference Center for Inborn Errors of Metabolism, Federal University of São Paulo, São Paulo, Brazil.

    Papers in Europe PMC
  5. 05
    Shapiro E5 papers · 2022

    University of Minnesota, Minneapolis, Minnesota.

    Papers in Europe PMC
  6. 06
    Tomatsu S5 papers · 2026

    Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address: stomatsu@nemours.org.

    Papers in Europe PMC
  7. 07
    Ahmed A4 papers · 2022

    University of Minnesota, Minneapolis, Minnesota.

    Papers in Europe PMC
  8. 08
    Chuang CK4 papers · 2023

    Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan.

    Papers in Europe PMC
  9. 09
    Eisengart JB4 papers · 2022

    Department of Pediatrics University of Minnesota Minneapolis Minnesota USA.

    Papers in Europe PMC
  10. 10
    Hwu WL4 papers · 2024

    Department of Pediatrics, National Taiwan University Hospital, 8 Chung-Shan South Road, Taipei 10041, Taiwan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

13

interventional trials for this specific condition

13 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

13 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.8th percentile).

high confidence · 92.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

13 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same 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.

"Hurler-Scheie syndrome" OR "MPS1H/S" OR "MPSIH/S" OR "Mucopolysaccharidosis type 1H/S" OR "Mucopolysaccharidosis type IH/S" OR "MPS I H-S" OR "mucopolysaccharidosis, mps-I-s"

Run this search on Europe PMC

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

"Hurler-Scheie syndrome" OR "MPS1H/S" OR "MPSIH/S" OR "Mucopolysaccharidosis type 1H/S" OR "Mucopolysaccharidosis type IH/S" OR "MPS I H-S" OR "mucopolysaccharidosis, mps-I-s" OR "IDUA"

Recall-expansion terms: IDUA

Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 13 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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 2026-07-27T04:22:31.141Z