Disease · MONDO_0015780

dyskeratosis congenita

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. dyskeratosis congenita. Diseases, record MONDO_0015780. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0015780

On this page

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: dyskeratosis congenita; Open Targets
Open Targets ID: MONDO_0015780; Open Targets
Other names: DC, DKC, Zinsser-Engman-Cole syndrome; Open Targets
Disease Ontology: DOID:2729; Disease Ontology
MeSH: D019871; MeSH
NCI Thesaurus: C111802; NCI Thesaurus
Orphanet: ORPHA:1775; Orphanet
Highest stage of its drugs: Phase 2/3, for 5 of its 10 drugs, from ClinicalTrials.gov; Open Targets

Drugs10

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
ALEMTUZUMAB	CHEMBL1201587	Antibody	Phase 2/3	ClinicalTrials.gov	3	3	3	Drugs and targets
FLUDARABINE	CHEMBL1568	Small molecule	Phase 2/3	ClinicalTrials.gov	3	3	3	Drugs and targets
ANTILYMPHOCYTE IMMUNOGLOBULIN (HORSE)	CHEMBL2108981		Phase 2/3	ClinicalTrials.gov	2	2	0	Drugs and targets
CYCLOPHOSPHAMIDE	CHEMBL1200796	Small molecule	Phase 2/3	ClinicalTrials.gov	2	2	2	Drugs and targets
METHYLPREDNISOLONE	CHEMBL650	Small molecule	Phase 2/3	ClinicalTrials.gov	1	1	1	Drugs and targets
DANAZOL	CHEMBL1479	Small molecule	Phase 2	ClinicalTrials.gov	2	2	2	Drugs and targets
CYCLOSPORINE	CHEMBL160	Protein	Phase 2	ClinicalTrials.gov	1	1	0	Drugs and targets
MYCOPHENOLATE MOFETIL	CHEMBL1456	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
TACROLIMUS ANHYDROUS	CHEMBL269732	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
ALEFACEPT	CHEMBL1201571	Protein	Unknown	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets9

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
AR	Androgen receptor	1	Androgen Receptor agonist	Phase 2	https://conductscience.org/library/genes/367	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 2/3	https://conductscience.org/library/genes/1043	Drugs and targets
FKBP1A	Peptidyl-prolyl cis-trans isomerase FKBP1A	1	FK506-binding protein 1A inhibitor	Phase 2	https://conductscience.org/library/genes/2280	Drugs and targets
IMPDH1	Inosine-5'-monophosphate dehydrogenase (IMPDH)	1	Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor	Phase 2	https://conductscience.org/library/genes/3614	Drugs and targets
IMPDH2	Inosine-5'-monophosphate dehydrogenase (IMPDH)	1	Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor	Phase 2	https://conductscience.org/library/genes/3615	Drugs and targets
NR3C1	Glucocorticoid receptor	1	Glucocorticoid receptor agonist	Phase 2/3	https://conductscience.org/library/genes/2908	Drugs and targets
PGR	Progesterone receptor	1	Progesterone receptor agonist	Phase 2	https://conductscience.org/library/genes/5241	Drugs and targets
PPIA	Peptidyl-prolyl cis-trans isomerase A	1	Cyclophilin A modulator	Phase 2	https://conductscience.org/library/genes/5478	Drugs and targets

Trials6

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
NCT02162420	Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia	Not applicable	61	2025-05-08	Dyskeratosis Congenita, Aplastic Anemia	ALEMTUZUMAB, CYCLOPHOSPHAMIDE, FLUDARABINE	Its record names the disease	ClinicalTrials.gov
NCT00455312	Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA	Phase 2/3	36	2017-05-31	Dyskeratosis Congenita, Aplastic Anemia	ALEMTUZUMAB, CYCLOPHOSPHAMIDE, FLUDARABINE, METHYLPREDNISOLONE	Its record names the disease	ClinicalTrials.gov
NCT01001598	Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita	Phase 1/2	5	2019-02-19	Fanconi Anemia, Dyskeratosis Congenita	DANAZOL	Its record names the disease	ClinicalTrials.gov
NCT01319851	Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation	Not applicable	3	2015-03-09	Thalassemia, Sickle Cell Disease, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome, Chronic-granulomatous Disease, Severe Congenital Neutropenia, Leukocyte Adhesion Deficiency, Schwachman-Diamond Syndrome, Diamond-Blackfan Anemia, Fanconi Anemia, Dyskeratosis-congenita, Chediak-Higashi Syndrome, Severe Aplastic Anemia	ALEFACEPT	Its record names the disease	ClinicalTrials.gov
NCT01659606	Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita	Phase 2	40		Dyskeratosis Congenita, Hoyeraal Hreidarsson Syndrome, Revesz Syndrome, Aplastic Anemia	ALEMTUZUMAB, FLUDARABINE, MYCOPHENOLATE MOFETIL, TACROLIMUS ANHYDROUS	Its record names the disease	ClinicalTrials.gov
NCT04638517	The TELO-SCOPE Study: Attenuating Telomere Attrition With Danazol. Is There Scope to Dramatically Improve Health Outcomes for Adults and Children With Pulmonary Fibrosis	Phase 2	29		Pulmonary Fibrosis, Telomere Shortening, Telomere Disease, Dyskeratosis Congenita	DANAZOL	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials11

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	Source
Patients With DC vs Patients With SAA: Incidence of Late Secondary Malignancies	0 of 15	4 of 21	36	NCT00455312	Trial comparisons
Patients With DC vs Patients With SAA: Incidence of Chronic GVHD	1 of 15	2 of 21	36	NCT00455312	Trial comparisons
Patients With DC vs Patients With SAA: Incidence of Grade 2-4 Acute Graft Versus Host Disease (GVHD)	1 of 15	0 of 21	36	NCT00455312	Trial comparisons
Patients With DC vs Patients With SAA: Incidence of Chronic GVHD	0 of 15	0 of 21	36	NCT00455312	Trial comparisons
Patients With DC vs Patients With SAA: Incidence of Pulmonary Complications	3 of 15	3 of 21	36	NCT00455312	Trial comparisons
Patients With DC vs Patients With SAA: Overall Survival	12 of 15	19 of 21	36	NCT00455312	Trial comparisons
Patients With DC vs Patients With SAA: Incidence of Regimen Related Mortality at 100 Days	1 of 15	2 of 21	36	NCT00455312	Trial comparisons
Patients With DC vs Patients With SAA: Incidence of Grade 3-4 Acute Graft Versus Host Disease (GVHD)	0 of 15	0 of 21	36	NCT00455312	Trial comparisons
Patients With DC vs Patients With SAA: Overall Survival	14 of 15	19 of 21	36	NCT00455312	Trial comparisons
Patients With DC vs Patients With SAA: serious adverse events	2 of 15	1 of 21	36	NCT00455312	Trial comparisons

1 to 10 of 11

See all 11 comparisons in its trials

Papers from its trials4

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
34857525	DERIVED	1	PubMed
34086408	DERIVED	1	PubMed
26095669	DERIVED	1	PubMed
20383216	DERIVED	1	PubMed

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_0015780

GET https://conductscience.org/api/diseases/v1/MONDO_0015780/drugs

API reference For AI assistants