RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:1830

Schimke immuno-osseous dysplasia

low confidenceDisorder

Also known as: Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome

Publications

2,642

Trials

1

Interventional, condition-specific

Researchers

1,410

Distinct authors in sample

Gene link

SMARCAL1

Definitive

Readiness

5/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — SMARCAL1

  2. LiteraturePresent

    2,642 matched papers (1,815 in last 10 years) Source

  3. Phenotype characterisedPresent

    134 HPO annotations (e.g. Focal segmental glomerulosclerosis; Abnormal lymphocyte physiology; Hypertension) Source

  4. Animal modelPresent

    1 genotype model (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

    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)

134

Associated phenotypes · MONDO:0009458

  • Focal segmental glomerulosclerosis
  • Abnormal lymphocyte physiology
  • Hypertension
  • Platyspondyly
  • Multiple lentigines

Showing 5 of 134 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,642

2,642 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=3967) is 59.

2,642 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).

1,815 in the last 10 years · low confidence

Phrase hits: 409 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Boerkoel CF21 papers · 2016

    Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, Canada (ABH, CFB)

    Papers in Europe PMC
  2. 02
    Lücke T16 papers · 2015

    Department of Pediatrics, Hannover Medical School, Hannover, Germany. luecke.thomas@mh-hannover.de

    Papers in Europe PMC
  3. 03
    Baradaran-Heravi A9 papers · 2015

    Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, Canada (ABH, CFB)

    Papers in Europe PMC
  4. 04
    Asakura Y6 papers · 2016

    Department of Endocrinology & Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan.

    Papers in Europe PMC
  5. 05
    Basiratnia M6 papers · 2019

    Department of Pediatrics, Nemazee Hospital, University of Medical Sciences, Shiraz, Iran. m_basiratnia@yahoo.com

    Papers in Europe PMC
  6. 06
    Choi K6 papers · 2016

    Department of Medical Genetics and Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.

    Papers in Europe PMC
  7. 07
    Clewing JM6 papers · 2012

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

    Papers in Europe PMC
  8. 08
    Cortez 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
  9. 09
    Ehrich JH6 papers · 2009
    Papers in Europe PMC
  10. 10
    Morimoto 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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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.

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.

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 2026-07-29

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).

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 Schimke immuno-osseous dysplasia — 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.

("Schimke immuno-osseous dysplasia" OR "Schimke syndrome" OR "Spondyloepiphyseal dysplasia-nephrotic syndrome" OR "Schimke immunoosseous dysplasia" OR "spondyloepiphyseal dysplasia - nephrotic syndrome") OR ("SMARCAL1" OR "SMARCAL1 syndrome" OR "SMARCAL1-related")

Run this search on Europe PMC

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"

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: ok — strategies attempted: phrase; 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 (2642) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T18:15:58.080Z