ORPHA:1830
Schimke immuno-osseous dysplasia
Also known as: Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
409
80.9th percentile
Trials
1
Interventional, condition-specific
Researchers
1,410
Distinct authors in sample
Gene link
SMARCAL1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare a multisystem disorder characterized by spondyloepiphyseal and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and , proteinuric steroid-resistant nephropathy.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009458
- MeSH:C536629
- OMIM:242900
- UMLS:C0877024
- NCIT:C135087
Additional Mondo synonyms (3)
Schimke immunoosseous dysplasia · spondyloepiphyseal dysplasia - nephrotic syndrome · spondyloepiphyseal dysplasia-nephrotic syndrome
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 — SMARCAL1
- LiteraturePresent
409 matched papers (234 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
1 matched on ClinicalTrials.gov (1 recruiting in sample)
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 (SMARCAL1).
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?
409
409 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
409 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).
234 in the last 10 years · medium confidence · 80.9th percentile (publications denominator)
Phrase hits: 409 · MeSH hits: 0
Who's working on it?
1,410
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.
- 01Boerkoel CF21 papers · 2016
Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, Canada (ABH, CFB)
Papers in Europe PMC - 02Lücke T16 papers · 2015
Department of Pediatrics, Hannover Medical School, Hannover, Germany. luecke.thomas@mh-hannover.de
Papers in Europe PMC - 03Baradaran-Heravi A9 papers · 2015
Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, Canada (ABH, CFB)
Papers in Europe PMC - 04Asakura Y6 papers · 2016
Department of Endocrinology & Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan.
Papers in Europe PMC - 05Basiratnia M6 papers · 2019
Department of Pediatrics, Nemazee Hospital, University of Medical Sciences, Shiraz, Iran. m_basiratnia@yahoo.com
Papers in Europe PMC - 06Choi K6 papers · 2016
Department of Medical Genetics and Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
Papers in Europe PMC - 07Clewing JM6 papers · 2012
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Papers in Europe PMC - 08Cortez D6 papers · 2024
Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, TN 37232, United States. Electronic address: david.cortez@vanderbilt.edu.
Papers in Europe PMC - 09Ehrich JH6 papers · 2009Papers in Europe PMC
- 10Morimoto M6 papers · 2016
Provincial Medical Genetics Program, Department of Medical Genetics, Children's and Women's Health Centre of BC, 4500 Oak Street, Room C234, Vancouver, BC, V6H 3N1, Canada.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06769191·RECRUITING·Clinical Study on the Safety and Efficacy of CD7 CAR-T Cell Sequential Allo-HSCT and Kidney Transplantation in the Treatment of SIOD
Conditions: Schimke Immuno-osseous Dysplasia·Matched via name phrase
Broader category: immuno-osseous dysplasia
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Schimke immuno-osseous dysplasia" OR "Schimke syndrome" OR "Spondyloepiphyseal dysplasia-nephrotic syndrome" OR "Schimke immunoosseous dysplasia" OR "spondyloepiphyseal dysplasia - nephrotic syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Schimke immuno-osseous dysplasia" OR "Schimke syndrome" OR "Spondyloepiphyseal dysplasia-nephrotic syndrome" OR "Schimke immunoosseous dysplasia" OR "spondyloepiphyseal dysplasia - nephrotic syndrome" OR "SMARCAL1"
Recall-expansion terms: SMARCAL1
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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"immuno-osseous dysplasia"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
- Publication count (409) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T18:15:58.080Z