ORPHA:726036
Red cell aplasia-microcephaly-seizure-developmental delay syndrome
Also known as: BMFS due to TP53 gain-of-function variant · RCA-microcephaly-seizure-developmental delay syndrome · Germline p53 activation syndrome · BMFS5
Publications
10
Trials
0
Interventional, condition-specific
Researchers
66
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
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.
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
10 matched papers (10 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 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
10
10 papers have ever been indexed 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.
10 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).
10 in the last 10 years · low confidence
Phrase hits: 10 · MeSH hits: 0
Who's working on it?
66
Distinct author names in 10 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.
- 01Cunningham-Rundles C2 papers · 2025
Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
Papers in Europe PMC - 02Klein C2 papers · 2025
Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.
Papers in Europe PMC - 03Morio T2 papers · 2025
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Papers in Europe PMC - 04Picard C2 papers · 2025
Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, APHP, Paris, France.
Papers in Europe PMC - 05Sullivan KE2 papers · 2025
Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Papers in Europe PMC - 06Tangye SG2 papers · 2025
Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW, 2010, Australia. s.tangye@garvan.org.au.
Papers in Europe PMC - 07Torgerson TR2 papers · 2025
Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA, USA.
Papers in Europe PMC - 08Aksentijevich I1 paper · 2025
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 09Al-Herz W1 paper · 2020
Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
Papers in Europe PMC - 10Arboleda VA1 paper · 2024
Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. varboleda@mednet.ucla.edu.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th 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.
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.
"Red cell aplasia-microcephaly-seizure-developmental delay syndrome" OR "BMFS due to TP53 gain-of-function variant" OR "RCA-microcephaly-seizure-developmental delay syndrome" OR "Germline p53 activation syndrome" OR "BMFS5"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Red cell aplasia-microcephaly-seizure-developmental delay syndrome" OR "BMFS due to TP53 gain-of-function variant" OR "RCA-microcephaly-seizure-developmental delay syndrome" OR "Germline p53 activation syndrome" OR "BMFS5"
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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-27T21:23:13.129Z