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ORPHA:84

Fanconi anemia

high confidenceDisorder

Also known as: Fanconi pancytopenia

Publications

80,348

99.8th percentile

Trials

76

Interventional, condition-specific

Researchers

1,380

Distinct authors in sample

Gene link

BRIP1, FANCM

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic multisystem disorder characterized by pancytopenia with bone marrow failure, variable malformations and predisposition to develop hematological or solid tumors.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

Fanconi's anemia · Panmyelopathy, Fanconi · pancytopenia, congenital · primary erythroid hypoplasia

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.

  1. Gene identifiedPresent

    Definitive — BRIP1, FANCM

  2. LiteraturePresent

    80,348 matched papers (57,410 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    76 matched on ClinicalTrials.gov (11 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 (BRIP1, FANCM).

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?

80,348

80,348 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=5449) is 41.

80,348 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).

57,410 in the last 10 years · high confidence · 99.8th percentile (publications denominator)

Phrase hits: 80,348 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,380

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
    Wang J8 papers · 2026

    Zhejiang University, Hangzhou, Zhejiang 310058, China.

    Papers in Europe PMC
  2. 02
    Crismani W5 papers · 2026

    St Vincent's Institute of Medical Research, Fitzroy, VIC, Australia.

    Papers in Europe PMC
  3. 03
    Li Y5 papers · 2026

    Division of Epidemiology, Biostatistics, and Preventive Medicine, University of New Mexico, Albuquerque, NM, USA.

    Papers in Europe PMC
  4. 04
    Li J4 papers · 2026

    Health Management Department, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, China.

    Papers in Europe PMC
  5. 05
    Li L4 papers · 2026

    School of Chemistry and Life Sciences, Suzhou University of Science and Technology.

    Papers in Europe PMC
  6. 06
    Liu Y4 papers · 2026

    Department of General Surgery, The Third Affiliated Hospital of Anhui Medical University, 390 huaihe Road, Hefei, 230061, China.

    Papers in Europe PMC
  7. 07
    Balbi M3 papers · 2026

    Department of Experimental Medicine, University of Genoa, Via De Toni 14, 16132 Genova, Italy.

    Papers in Europe PMC
  8. 08
    Cappelli E3 papers · 2026

    Hematology Unit, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genova, Italy.

    Papers in Europe PMC
  9. 09
    Chandrasekharappa SC3 papers · 2026

    Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  10. 10
    Chen S3 papers · 2026

    Department of General Surgery, The Third Affiliated Hospital of Anhui Medical University, 390 huaihe Road, Hefei, 230061, China. 2606772991@qq.com.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

76

interventional trials for this specific condition

76 interventional trials matched this specific condition name; 11 currently recruiting in our sample. 2,047 trials are registered for anemia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

76 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 98th percentile).

high confidence · 98th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

76 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: anemia

2,047

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

23 observational studies match 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

Directly listed under NPRD Group 1.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

"Fanconi anemia" OR "Fanconi pancytopenia" OR "Fanconi's anemia" OR "Panmyelopathy, Fanconi" OR "pancytopenia, congenital" OR "primary erythroid hypoplasia"

Run this search on Europe PMC

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

"Fanconi anemia" OR "Fanconi pancytopenia" OR "Fanconi's anemia" OR "Panmyelopathy, Fanconi" OR "pancytopenia, congenital" OR "primary erythroid hypoplasia" OR "BRIP1" OR "FANCM"

Recall-expansion terms: BRIP1, FANCM

Interventional trials matched via: phrase, 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: 76 interventional · 23 observational · 2 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"anemia"

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 2026-07-26T12:21:18.124Z