ORPHA:125
Bloom syndrome
Also known as: BSyn
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
4,339
Trials
0
Interventional, condition-specific
Researchers
1,239
Distinct authors in sample
Gene link
BLM, RMI2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems.
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:0008876
- MeSH:D001816
- OMIM:210900
- UMLS:C0005859
- NCIT:C2903
Additional Mondo synonyms (2)
Bloom-Torre-Machacek syndrome · congenital telangiectatic erythema 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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — BLM, RMI2
- LiteraturePresent
4,339 matched papers (1,937 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?
Yes — we know a specific gene responsible (BLM, RMI2).
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?
4,339
4,339 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=5449) is 41.
4,339 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).
1,937 in the last 10 years · low confidence
Phrase hits: 4,339 · MeSH hits: 0
Who's working on it?
1,239
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.
- 01Li Y6 papers · 2025
Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany
Papers in Europe PMC - 02Liu J6 papers · 2026
Department of Immunology, Basic Medical College, Guizhou Medical University, 9 Beijing Road, Guiyang 550025, People's Republic of China; State Key Laboratory of Functions and Applications of Medicinal Plants (Guizhou Medical University), Guizhou Science City, Guiyang 550014, People's Republic of China. Electronic address: liujielin@gmc.edu.cn.
Papers in Europe PMC - 03Wollnik B6 papers · 2026
Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany
Papers in Europe PMC - 04Gönenc II5 papers · 2026
Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany
Papers in Europe PMC - 05Yigit G5 papers · 2025
Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany
Papers in Europe PMC - 06Zhang W5 papers · 2026
Department of Immunology, Basic Medical College, Guizhou Medical University, 9 Beijing Road, Guiyang 550025, People's Republic of China.
Papers in Europe PMC - 07Zhang X5 papers · 2026
Weifang People's Hospital, Shandong Second Medical University, Weifang, China.
Papers in Europe PMC - 08Chang VY4 papers · 2025
Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA.
Papers in Europe PMC - 09Cunniff C4 papers · 2025
Department of Pediatrics, Weill Cornell Medical College, New York, NY. Electronic address: cmc9039@med.cornell.edu.
Papers in Europe PMC - 10Flanagan M4 papers · 2025
Department of Pediatrics, Weill Cornell Medical College, New York, NY.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"Bloom syndrome" OR "Bloom-Torre-Machacek syndrome" OR "congenital telangiectatic erythema syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Bloom syndrome" OR "Bloom-Torre-Machacek syndrome" OR "congenital telangiectatic erythema syndrome" OR "BLM" OR "RMI2"
Recall-expansion terms: BLM, RMI2
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: BSyn
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (4339) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T12:31:37.925Z