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ORPHA:93474

Scheie syndrome

medium confidenceSubtype of disorder

Also known as: MPS1S · MPSIS · Mucopolysaccharidosis type 1S · Mucopolysaccharidosis type IS

Publications

15,350

98.4th percentile

Trials

13

Interventional, condition-specific

Researchers

1,323

Distinct authors in sample

Gene link

IDUA

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), 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 (3)

MPS I S · mucopolysaccharidosis type 1S · mucopolysaccharidosis type IS

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

    Definitive — IDUA

  2. LiteraturePresent

    15,350 matched papers (9,074 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: 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?

15,350

15,350 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

15,350 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).

9,074 in the last 10 years · medium confidence · 98.4th percentile (publications denominator)

Phrase hits: 15,350 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,323

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

    Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Dasa Genomica, Porto Alegre, Brazil; Casa dos Raros, Porto Alegre, Brazil. Electronic address: rgiugliani@hcpa.edu.br.

    Papers in Europe PMC
  2. 02
    Muenzer J5 papers · 2026

    Division of Genetics and Metabolism, University of North Carolina Hospitals, Chapel Hill, North Carolina, USA.

    Papers in Europe PMC
  3. 03
    Okuyama T5 papers · 2026

    Department of Clinical Genomics, Saitama Medical University, 1397-1 Yamane, Hidaka, Saitama 350-1241, Japan.

    Papers in Europe PMC
  4. 04
    Zhang Y5 papers · 2026

    School of Chemistry and Chemical Engineering, North University of China, Taiyuan, Shanxi, 030051, China.

    Papers in Europe PMC
  5. 05
    Baldo G4 papers · 2026

    Casa dos Raros, Porto Alegre 90610-261, Brazil.

    Papers in Europe PMC
  6. 06
    Tomatsu S4 papers · 2026

    Nemours/Alfred I. duPont Hospital for Children, DuPont Experimental Station, Bldg. E400. #5205, 200 Powder Mill Rd., Wilmington, DE 19803, USA.

    Papers in Europe PMC
  7. 07
    Wang X4 papers · 2026

    School of Chemistry and Chemical Engineering, North University of China, Taiyuan, Shanxi, 030051, China.

    Papers in Europe PMC
  8. 08
    Zhang W4 papers · 2026

    The Laboratory of Clinical Genetics, Are Disease Medical Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  9. 09
    Boudabous H3 papers · 2026

    Laboratory of Pediatrics, La Rabta Hospital, Tunis, Tunisia.

    Papers in Europe PMC
  10. 10
    Brusius-Facchin AC3 papers · 2026

    MPS Brazil Network, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035-903, Brazil.

    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).

medium 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.

"Scheie syndrome" OR "MPS1S" OR "MPSIS" OR "Mucopolysaccharidosis type 1S" OR "Mucopolysaccharidosis type IS" OR "MPS I S"

Run this search on Europe PMC

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

"Scheie syndrome" OR "MPS1S" OR "MPSIS" OR "Mucopolysaccharidosis type 1S" OR "Mucopolysaccharidosis type IS" OR "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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T04:22:20.502Z