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ORPHA:1465

Coffin-Siris syndrome

low confidenceDisorder

Also known as: CSS

Publications

19,542

Trials

0

Interventional, condition-specific

Researchers

1,464

Distinct authors in sample

Gene link

ARID1A, ARID1B, ARID2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic syndromic of broad phenotypic range characterized by and variable clinical features which most commonly, but not consistently, include aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, and coarse facial features.

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.

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

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — ARID1A, ARID1B, ARID2, BICRA, DPF2…

  2. LiteraturePresent

    19,542 matched papers (17,169 in last 10 years) Source

  3. Phenotype characterisedPresent

    588 HPO annotations (e.g. Short stature; Short distal phalanx of finger; Thick lower lip vermilion) Source

  4. Animal modelPresent

    4 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (ARID1A, ARID1B, ARID2…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

588

Associated phenotypes · MONDO:0015452

  • Short stature
  • Short distal phalanx of finger
  • Thick lower lip vermilion
  • Intellectual disability
  • Wide mouth

Showing 5 of 588 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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?

19,542

19,542 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.

19,542 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).

17,169 in the last 10 years · low confidence

Phrase hits: 1,222 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,464

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Sadikovic B10 papers · 2026

    Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.

    Papers in Europe PMC
  2. 02
    Santen GWE8 papers · 2026

    Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: santen@lumc.nl.

    Papers in Europe PMC
  3. 03
    Wang Y8 papers · 2026

    Center of Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.

    Papers in Europe PMC
  4. 04
    Li Y7 papers · 2026

    Department of Neurology and Rehabilitation, Qingdao Women and Children's Hospital, Qingdao University. No. 6 Tongfu Road, Qingdao, Shandong, 266034, China.

    Papers in Europe PMC
  5. 05
    Kerkhof J6 papers · 2026

    Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.

    Papers in Europe PMC
  6. 06
    Li H6 papers · 2026

    Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, Third Clinical Medical College of Ningxia Medical University, Yinchuan, China.

    Papers in Europe PMC
  7. 07
    van der Sluijs PJ5 papers · 2026

    Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC
  8. 08
    Zhou Y5 papers · 2026

    Neurology Department, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.

    Papers in Europe PMC
  9. 09
    Alders M4 papers · 2025

    Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

    Papers in Europe PMC
  10. 10
    Chen J4 papers · 2026

    Department of Respiratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 Coffin-Siris 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.

("Coffin-Siris syndrome") OR ("ARID1A" OR "ARID1A syndrome" OR "ARID1A-related" OR "ARID1B" OR "ARID1B syndrome" OR "ARID1B-related" OR "ARID2" OR "ARID2 syndrome" OR "ARID2-related")

Run this search on Europe PMC

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

"Coffin-Siris syndrome"

Study-type breakdown: 0 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

Synonyms dropped by stoplist: CSS

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
  • Publication count (19542) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T17:28:31.846Z