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ORPHA:84

Fanconi anemia

high confidenceDisorder

Also known as: Fanconi pancytopenia

Publications

82,577

99.5th percentile

Trials

67

Interventional, condition-specific

Researchers

1,743

Distinct authors in sample

Gene link

BRIP1, FANCM

Definitive

Readiness

5/6

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.”

5/6 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

    82,577 matched papers (59,186 in last 10 years) Source

  3. Phenotype characterisedPresent

    668 HPO annotations (e.g. Preaxial hand polydactyly; Strabismus; Horseshoe kidney) Source

  4. Animal modelPresent

    16 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 trialPresent

    67 matched on ClinicalTrials.gov (8 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)

668

Associated phenotypes · MONDO:0019391

  • Preaxial hand polydactyly
  • Strabismus
  • Horseshoe kidney
  • Duplicated collecting system
  • Cafe-au-lait spot

Showing 5 of 668 — open Monarch for the full list.

Animal models (Monarch / Alliance)

16

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

28

Drugs / clinical candidates · MONDO_0019391

CTD chemicals (MyDisease.info)

11 associated chemicals · 103 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Adrenal Cortex Hormones · therapeutic
  • Anabolic Agents · therapeutic
  • Androgens · therapeutic
  • Fluoxymesterone · therapeutic
  • Methandrostenolone · therapeutic
  • Nandrolone Decanoate · therapeutic
  • Resveratrol · therapeutic
  • Rutin · therapeutic
  • tempol · therapeutic
  • diepoxybutane · marker/mechanism
  • Glutathione · marker/mechanism

Pathways: Antifolate resistance; Homologous recombination; Fanconi anemia pathway; MAPK signaling pathway; Cytokine-cytokine receptor interaction; NF-kappa B signaling pathway; Sphingolipid signaling pathway; Ubiquitin mediated proteolysis

MyDisease.info · MONDO:0019391

Literature

Is anyone studying this?

82,577

82,577 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.

82,577 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).

59,186 in the last 10 years · high confidence · 99.5th percentile (publications denominator)

Phrase hits: 80,348 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,743

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
    Crismani W5 papers · 2026

    DNA Repair and Recombination Laboratory, St. Vincent's Institute of Medical Research, Fitzroy, Victoria, Australia.

    Papers in Europe PMC
  2. 02
    Zhang J5 papers · 2026

    Department of Pathology and Laboratory Medicine, Mayo Clinic, Arizona Campus, Phoenix, AZ, United States.

    Papers in Europe PMC
  3. 03
    Zhang X5 papers · 2026

    College of Medicine, Zhejiang University, Hangzhou 310058, China.

    Papers in Europe PMC
  4. 04
    Deans AJ4 papers · 2026

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

    Papers in Europe PMC
  5. 05
    Li J4 papers · 2025

    Department of Pathology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China; The MOE Basic Research and Innovation Center for the Targeted Therapeutics of Solid Tumors, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China; Department of Pathology and Institute of Molecular Pathology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China. Electronic address: lijming3@sysu.edu.cn.

    Papers in Europe PMC
  6. 06
    Liu L4 papers · 2026

    Department of Oncology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu, Nanjing, China.

    Papers in Europe PMC
  7. 07
    Wang J4 papers · 2026

    Life Sciences Institute, Zhejiang University, Hangzhou, China.

    Papers in Europe PMC
  8. 08
    Wang X4 papers · 2026

    Life Sciences Institute, Zhejiang University, Hangzhou, China.

    Papers in Europe PMC
  9. 09
    Wang Y4 papers · 2026

    Center for Chromosome Stability, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3B, 2200 Copenhagen N, Denmark.

    Papers in Europe PMC
  10. 10
    Bhattacharya D3 papers · 2026

    Department of Biochemistry, Indian Institute of Science, Bangalore 560012, India.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

67

interventional trials for this specific condition

67 interventional trials matched this specific condition name; 8 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 11 September 2026 · last trial check 28 July 2026

67 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.9th percentile).

high confidence · 97.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

67 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

22 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

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 9 · after dedupe 7 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 7 · 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 (7)

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 Fanconi anemia — check Associations / patient organisations on that page.

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") OR ("BRIP1" OR "BRIP1 syndrome" OR "BRIP1-related" OR "FANCM" OR "FANCM syndrome" OR "FANCM-related")

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"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 67 interventional · 22 observational · 2 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"anemia"

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

Ingested 2026-07-26T12:21:18.124Z