ORPHA:811
Shwachman-Diamond syndrome
Also known as: Pancreatic insufficiency and bone marrow dysfunction · SDS · Shwachman syndrome · Shwachman-Bodian-Diamond syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
2,347
94.2th percentile
Trials
10
Interventional, condition-specific
Researchers
1,215
Distinct authors in sample
Gene link
EIF6, SBDS, SRPRA
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009833
- MeSH:C537330
- UMLS:C0272170
- NCIT:C61235
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — EIF6, SBDS, SRPRA
- LiteraturePresent
2,347 matched papers (1,327 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
2,347
2,347 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=5449) is 41.
2,347 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).
1,327 in the last 10 years · medium confidence · 94.2th percentile (publications denominator)
Phrase hits: 2,347 · MeSH hits: 0
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.
- 01Cipolli M17 papers · 2026
Cystic Fibrosis Center of Verona, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy.
Papers in Europe PMC - 02Bezzerri V14 papers · 2026
Cystic Fibrosis Center of Verona, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy.
Papers in Europe PMC - 03Shimamura 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 - 04Cesaro S9 papers · 2026
Unit of Pediatric Hematology Oncology, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy.
Papers in Europe PMC - 05Myers 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 - 06Valli 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 - 07Corey SJ7 papers · 2026
Departments of Pediatrics and Cancer Biology, Cleveland Clinic, Cleveland, OH. coreys2@ccf.org.
Papers in Europe PMC - 08Pegoraro A7 papers · 2026
Cystic Fibrosis Center of Verona, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy.
Papers in Europe PMC - 09Donadieu 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
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 27 July 2026
10 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.7th percentile).
medium confidence · 91.7th 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
- NCT06056908·RECRUITING·Shwachman Diamond Syndrome Registry and Study
Conditions: Shwachman-Diamond Syndrome · Shwachman-Diamond Syndrome-Like·Matched via name phrase
- NCT06999954·RECRUITING·Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
Conditions: Shwachman-Diamond Syndrome · SDS · IBMF · Congenital Neutropenia·Matched via name phrase
- NCT00027274·RECRUITING·Cancer in Inherited Bone Marrow Failure Syndromes
Conditions: Diamond Blackfan Anemia · Dyskeratosis Congenita · Fanconi Anemia · Shwachman Diamond Syndrome·Matched via name phrase
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 2026-07-26This 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"
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" OR "EIF6" OR "SBDS" OR "SRPRA"
Recall-expansion terms: EIF6, SBDS, SRPRA
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: suspect — strategies attempted: phrase, recall-expansion; 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