ORPHA:487796
Takenouchi-Kosaki syndrome
Also known as: Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Publications
84
63.5th percentile
Trials
2
Interventional, condition-specific
Researchers
753
Distinct authors in sample
Gene link
CDC42
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome with characterized by global , , macrothrombocytopenia, lymphedema, and facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies, and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy, or white matter changes.
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:0014757
- OMIM:616737
- UMLS:C4225222
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 — CDC42
- LiteraturePresent
84 matched papers (84 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
2 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 (CDC42).
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?
84
84 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.
84 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).
84 in the last 10 years · high confidence · 63.5th percentile (publications denominator)
Phrase hits: 84 · MeSH hits: 0
Who's working on it?
753
Distinct author names in 84 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.
- 01Okamoto N5 papers · 2026
Department of Molecular Medicine, Research Institute, Osaka Women's and Children's Hospital, 840 Murodo-cho, Izumi, Osaka, 594-1101, Japan. genetics@wch.opho.jp.
Papers in Europe PMC - 02Shibukawa Y4 papers · 2026
Department of Molecular Medicine, Research Institute, Osaka Women's and Children's Hospital, 840 Murodo-cho, Izumi, Osaka, 594-1101, Japan.
Papers in Europe PMC - 03
- 04Bury L3 papers · 2024
Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy.
Papers in Europe PMC - 05Daimon E3 papers · 2026
Department of Molecular Medicine, Research Institute, Osaka Women's and Children's Hospital, 840 Murodo-cho, Izumi, Osaka, 594-1101, Japan.
Papers in Europe PMC - 06Gresele P3 papers · 2024
Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy.
Papers in Europe PMC - 07Ishiguro A3 papers · 2023
Center for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), Tokyo, Japan.
Papers in Europe PMC - 08Ishikawa K3 papers · 2023
Center for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), Tokyo, Japan.
Papers in Europe PMC - 09
- 10Meyts I3 papers · 2024
Department of Immunology and Microbiology, Laboratory for Inborn Errors of Immunity, Department of Pediatrics, University Hospitals Leuven and KU Leuven, 3000, Leuven, Belgium.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
high confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06772558·NOT YET RECRUITING·Desflurane Potentially Induces Postoperative Cognitive Dysfunction in Elderly Patients Undergoing Perioperative Procedures by Modulating Cdc42 and Clock Proteins
Conditions: Avascular Necrosis of the Femoral Head · Coronary Artery Disease (CAD) · Benign Prostatic Hyperplasia (BPH) · Cholecystitis·Matched via recall expansion
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.
"Takenouchi-Kosaki syndrome" OR "Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Takenouchi-Kosaki syndrome" OR "Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome" OR "CDC42"
Recall-expansion terms: CDC42
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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
Ingested 2026-07-27T17:21:30.484Z