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ORPHA:811

Shwachman-Diamond syndrome

medium confidenceDisorder

Also known as: Pancreatic insufficiency and bone marrow dysfunction · SDS · Shwachman syndrome · Shwachman-Bodian-Diamond syndrome

Publications

5,345

93.1th percentile

Trials

10

Interventional, condition-specific

Researchers

1,215

Distinct authors in sample

Gene link

EIF6, SBDS, SRPRA

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

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)

Schwachman-Diamond syndrome · Schwachmann-Diamond syndrome · Shwachman Diamond Syndrome · pancreatic insufficiency and bone marrow dysfunction

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — EIF6, SBDS, SRPRA

  2. LiteraturePresent

    5,345 matched papers (3,522 in last 10 years) Source

  3. Phenotype characterisedPresent

    129 HPO annotations (e.g. Abnormality of the skeletal system; Exocrine pancreatic insufficiency; Decreased total neutrophil count) Source

  4. Animal modelPresent

    11 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    10 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 (EIF6, SBDS, SRPRA).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

129

Associated phenotypes · MONDO:0009833

  • Abnormality of the skeletal system
  • Exocrine pancreatic insufficiency
  • Decreased total neutrophil count
  • Fat malabsorption
  • Growth delay

Showing 5 of 129 — open Monarch for the full list.

Animal models (Monarch / Alliance)

11

Model associations linked to this Mondo ID

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

1

Drugs / clinical candidates · MONDO_0009833

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

5,345

5,345 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.

5,345 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).

3,522 in the last 10 years · medium confidence · 93.1th percentile (publications denominator)

Phrase hits: 2,347 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,215

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
    Cipolli M17 papers · 2026

    Cystic Fibrosis Center of Verona, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy.

    Papers in Europe PMC
  2. 02
    Bezzerri V14 papers · 2026

    Cystic Fibrosis Center of Verona, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy.

    Papers in Europe PMC
  3. 03
    Shimamura A10 papers · 2026

    Bone Marrow Failure and Myelodysplastic Syndrome Program, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA.

    Papers in Europe PMC
  4. 04
    Cesaro S9 papers · 2026

    Unit of Pediatric Hematology Oncology, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy.

    Papers in Europe PMC
  5. 05
    Myers KC8 papers · 2026

    Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA. Electronic address: Kasiani.myers@cchmc.org.

    Papers in Europe PMC
  6. 06
    Valli R8 papers · 2026

    Department of Medicine and Surgery (DMC), Universita' degli Studi dell'Insubria, Via J.H. Dunant, 5, 21100 Varese, Italy.

    Papers in Europe PMC
  7. 07
    Corey SJ7 papers · 2026

    Departments of Pediatrics and Cancer Biology, Cleveland Clinic, Cleveland, OH. coreys2@ccf.org.

    Papers in Europe PMC
  8. 08
    Pegoraro A7 papers · 2026

    Cystic Fibrosis Center of Verona, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy.

    Papers in Europe PMC
  9. 09
    Donadieu J6 papers · 2026

    Department of Paediatric Haematology and Oncology, Registre National des Neutropénies Chroniques, AP-HP Trousseau Hospital, Paris, France.

    Papers in Europe PMC
  10. 10
    Loveless S6 papers · 2026

    Boston Children’s Hospital

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

10

interventional trials for this specific condition

10 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

10 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.5th percentile).

medium confidence · 92.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

10 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.

Observational and natural-history studies

6 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

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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (3)

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 Shwachman-Diamond 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.

("Shwachman-Diamond syndrome" OR "Pancreatic insufficiency and bone marrow dysfunction" OR "Shwachman syndrome" OR "Shwachman-Bodian-Diamond syndrome" OR "Schwachman-Diamond syndrome" OR "Schwachmann-Diamond syndrome" OR "Shwachman Diamond Syndrome") OR ("EIF6" OR "EIF6 syndrome" OR "EIF6-related" OR "SBDS" OR "SBDS syndrome" OR "SBDS-related" OR "SRPRA" OR "SRPRA syndrome" OR "SRPRA-related")

Run this search on Europe PMC

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

"Shwachman-Diamond syndrome" OR "Pancreatic insufficiency and bone marrow dysfunction" OR "Shwachman syndrome" OR "Shwachman-Bodian-Diamond syndrome" OR "Schwachman-Diamond syndrome" OR "Schwachmann-Diamond syndrome" OR "Shwachman Diamond Syndrome"

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: 10 interventional · 6 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

Synonyms dropped by stoplist: SDS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:30:11.009Z