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ORPHA:93474

Scheie syndrome

medium confidenceSubtype of disorder

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

Publications

16,988

97th percentile

Trials

11

Interventional, condition-specific

Researchers

1,323

Distinct authors in sample

Gene link

IDUA

Definitive

Readiness

4/6

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — IDUA

  2. LiteraturePresent

    16,988 matched papers (9,782 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Everted lower lip vermilion; Glaucoma; Abnormality of the skeletal system) 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: Definitive.

Phenotypes (Monarch / HPO)

38

Associated phenotypes · MONDO:0011760

  • Everted lower lip vermilion
  • Glaucoma
  • Abnormality of the skeletal system
  • Joint stiffness
  • Aortic regurgitation

Showing 5 of 38 — 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

6

Drugs / clinical candidates · MONDO_0011760

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

16,988

16,988 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=3967) is 59.

16,988 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).

9,782 in the last 10 years · medium confidence · 97th 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?

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).

medium 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 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.

("Scheie syndrome" OR "MPS1S" OR "MPSIS" OR "Mucopolysaccharidosis type 1S" OR "Mucopolysaccharidosis type IS" OR "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):

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