Disease · MONDO_0019391

Fanconi anemia

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. Fanconi anemia. Diseases, record MONDO_0019391. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0019391

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Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: Fanconi anemia; Open Targets
Open Targets ID: MONDO_0019391; Open Targets
Other names: Fanconi pancytopenia, Fanconi's anemia, Panmyelopathy, Fanconi, pancytopenia, congenital, primary erythroid hypoplasia; Open Targets
Disease Ontology: DOID:13636; Disease Ontology
MeSH: D005199; MeSH
NCI Thesaurus: C62505; NCI Thesaurus
Orphanet: ORPHA:84; Orphanet
Highest stage of its drugs: Phase 2/3, for 4 of its 28 drugs, from ClinicalTrials.gov; Open Targets

Drugs28

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
CYCLOPHOSPHAMIDE	CHEMBL1200796	Small molecule	Phase 2/3	ClinicalTrials.gov	16	16	16	Drugs and targets
FLUDARABINE	CHEMBL1568	Small molecule	Phase 2/3	ClinicalTrials.gov	12	12	12	Drugs and targets
MYCOPHENOLATE MOFETIL	CHEMBL1456	Small molecule	Phase 2/3	ClinicalTrials.gov	6	6	6	Drugs and targets
SIROLIMUS	CHEMBL413	Small molecule	Phase 2/3	ClinicalTrials.gov	1	1	1	Drugs and targets
FILGRASTIM	CHEMBL1201567	Protein	Phase 2	ClinicalTrials.gov	9	9	7	Drugs and targets
ANTILYMPHOCYTE IMMUNOGLOBULIN (HORSE)	CHEMBL2108981		Phase 2	ClinicalTrials.gov	6	6	0	Drugs and targets
BUSULFAN	CHEMBL820	Small molecule	Phase 2	ClinicalTrials.gov	6	6	6	Drugs and targets
CYCLOSPORINE	CHEMBL160	Protein	Phase 2	ClinicalTrials.gov	5	5	5	Drugs and targets
FLUDARABINE PHOSPHATE	CHEMBL1096882	Small molecule	Phase 2	ClinicalTrials.gov	4	4	4	Drugs and targets
PLERIXAFOR	CHEMBL18442	Small molecule	Phase 2	ClinicalTrials.gov	4	4	4	Drugs and targets

1 to 10 of 28

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Targets80

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
CSF3R	Granulocyte colony-stimulating factor receptor	3	Granulocyte colony stimulating factor receptor agonist	Phase 2	https://conductscience.org/library/genes/1441	Drugs and targets
FKBP1A	Peptidyl-prolyl cis-trans isomerase FKBP1A	3	FK506-binding protein 1A inhibitor	Phase 2/3	https://conductscience.org/library/genes/2280	Drugs and targets
AR	Androgen receptor	2	Androgen Receptor agonist	Phase 1/2	https://conductscience.org/library/genes/367	Drugs and targets
NR3C1	Glucocorticoid receptor	2	Glucocorticoid receptor agonist	Phase 1/2	https://conductscience.org/library/genes/2908	Drugs and targets
CD2	T-cell surface antigen CD2	1	T-cell surface antigen CD2 inhibitor	Unknown	https://conductscience.org/library/genes/914	Drugs and targets
CD52	CAMPATH-1 antigen	1	CAMPATH-1 antigen inhibitor	Phase 2	https://conductscience.org/library/genes/1043	Drugs and targets
COXFA4	Mitochondrial complex I (NADH dehydrogenase)	1	Mitochondrial complex I (NADH dehydrogenase) inhibitor	Phase 2	https://conductscience.org/library/genes/4697	Drugs and targets
COXFA4L2	Mitochondrial complex I (NADH dehydrogenase)	1	Mitochondrial complex I (NADH dehydrogenase) inhibitor	Phase 2	https://conductscience.org/library/genes/56901	Drugs and targets
CXCR4	C-X-C chemokine receptor type 4	1	C-X-C chemokine receptor type 4 partial agonist	Phase 2	https://conductscience.org/library/genes/7852	Drugs and targets
GPD2	Glycerol-3-phosphate dehydrogenase, mitochondrial	1	Mitochondrial glycerol-3-phosphate dehydrogenase inhibitor	Phase 2	https://conductscience.org/library/genes/2820	Drugs and targets

1 to 10 of 80

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Trials33

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT00352976	TBI Dose De-escalation for Fanconi Anemia	Phase 2/3	83	2021-11-24	Fanconi Anemia	CYCLOPHOSPHAMIDE, FLUDARABINE, MYCOPHENOLATE MOFETIL, SIROLIMUS	Its record names the disease	ClinicalTrials.gov
NCT00987480	Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine	Phase 2	45	2018-07-10	Aplastic Anemia, Leukemia, Myelodysplastic Syndrome	BUSULFAN, CYCLOPHOSPHAMIDE, FLUDARABINE	Its record names the disease	ClinicalTrials.gov
NCT00630253	Cytoxan, Fludara, and Antithymocyte Globulin Conditioning Followed By Stem Cell Transplant in Treating Fanconi Anemia	Phase 1/2	31	2021-10-12	Fanconi Anemia	CYCLOPHOSPHAMIDE, FLUDARABINE PHOSPHATE	Its record names the disease	ClinicalTrials.gov
NCT00058825	Stem Cell Transplant for Hematologic Diseases	Phase 1/2	27	2015-10-22	Hematologic Malignancies	ALEMTUZUMAB, CYCLOSPORINE, FLUDARABINE, TACROLIMUS, TACROLIMUS ANHYDROUS	Its record names the disease	ClinicalTrials.gov
NCT00595127	Hematopoietic Stem Cell Transplantation for Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using Total Body Irradiation, Cyclophosphamide and Fludarabine	Not applicable	21	2016-08-10	Fanconi Anemia	CYCLOPHOSPHAMIDE, FLUDARABINE	Its record names the disease	ClinicalTrials.gov
NCT00167206	Stem Cell Transplantation for Fanconi Anemia	Phase 1/2	16	2009-11-26	Fanconi Anemia	CYCLOPHOSPHAMIDE, FLUDARABINE	Its record names the disease	ClinicalTrials.gov
NCT03398824	Pilot Study of Metformin for Patients With Fanconi Anemia	Phase 2	15	2022-11-29	Fanconi Anemia	METFORMIN	Its record names the disease	ClinicalTrials.gov
NCT00258427	Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia	Phase 2	14	2021-12-02	Fanconi Anemia	BUSULFAN, CYCLOPHOSPHAMIDE, FILGRASTIM, FLUDARABINE PHOSPHATE, MYCOPHENOLATE MOFETIL	Its record names the disease	ClinicalTrials.gov
NCT00453388	Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant, Mycophenolate Mofetil, and Cyclosporine in Treating Patients With Fanconi Anemia	Phase 2	6	2017-05-24	Acute Myeloid Leukemia in Remission, de Novo Myelodysplastic Syndrome, Fanconi Anemia, Previously Treated Myelodysplastic Syndrome	CYCLOPHOSPHAMIDE, CYCLOSPORINE, FLUDARABINE PHOSPHATE, MYCOPHENOLATE MOFETIL	Its record names the disease	ClinicalTrials.gov
NCT00590460	Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia	Phase 1/2	5	2012-08-09	Fanconi Anemia, Severe Aplastic Anemia	ALEMTUZUMAB	Its record names the disease	ClinicalTrials.gov

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Comparisons in its trials1

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial
Isolex vs CLINIMACs: Number of Patients Who Engrafted With the Isolex/CLINIMACs System	15 of 19	7 of 8	27	NCT00058825

Source Trial comparisons

Papers from its trials11

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
34751952	RESULT	1	PubMed
40696207	DERIVED	1	PubMed
40665878	DERIVED	1	PubMed
39820512	DERIVED	1	PubMed
35500223	DERIVED	1	PubMed
34485595	DERIVED	1	PubMed
33159275	DERIVED	1	PubMed
31851762	DERIVED	1	PubMed
28179273	DERIVED	1	PubMed
26095669	DERIVED	1	PubMed

1 to 10 of 11

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Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0019391

GET https://conductscience.org/api/diseases/v1/MONDO_0019391/drugs?page=2

API reference For AI assistants