RARE DISEASERESEARCH ATLAS
Open navigation menu

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

2,970

89.5th percentile

Trials

11

Interventional, condition-specific

Researchers

1,165

Distinct authors in sample

Gene link

IDUA

Strong

Readiness

4/6

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — IDUA

  2. LiteraturePresent

    2,970 matched papers (1,552 in last 10 years) Source

  3. Phenotype characterisedPresent

    46 HPO annotations (e.g. Rhinitis; Abnormal nerve conduction velocity; Hernia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    11 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)

46

Associated phenotypes · MONDO:0011759

  • Rhinitis
  • Abnormal nerve conduction velocity
  • Hernia
  • Coarse facial features
  • Limitation of joint mobility

Showing 5 of 46 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

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

2

Drugs / clinical candidates · MONDO_0011759

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,970

2,970 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.

2,970 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).

1,552 in the last 10 years · high confidence · 89.5th 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?

11

interventional trials for this specific condition

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

Data as of 11 September 2026 · last trial check 28 July 2026

11 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.8th percentile).

high confidence · 92.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

11 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.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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 Hurler-Scheie syndrome — 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.

("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" OR "IDUA syndrome" OR "IDUA-related")

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"

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

Study-type breakdown: 11 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; 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 2026-07-27T04:22:31.141Z