Dyskeratosis congenita
Also known as DC, DKC, Zinsser-Engman-Cole syndrome, Hoyeraal-Hreidarsson syndrome+1 more
DC, DKC, Zinsser-Engman-Cole syndrome, Hoyeraal-Hreidarsson syndrome, Zinsser Cole Engman syndrome.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- 5 clinical trials expected to report results, the earliest in Q4 2026.
- Q4 2026Radiation- and Alkylator-free Hematopoietic Cell Transplantation for Bone Marrow Failure Due to Dyskeratosis Congenita / Telomere Disease
- Q1 2027MT2017-17:T Cell Receptor Alpha/Beta T Cell Depleted Hematopoietic Cell Transplantation in Patients With Inherited Bone Marrow Failure (BMF) Disorders
- Q4 2027Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures
- Q2 2028Nucleoside Therapy in Patients With Telomere Biology Disorders
- Q3 2028Pilot Study of Quercetin Patients With Dyskeratosis Congenita/Telomere Biology Disorders
Clinical MilestonesViewHide
- 2026-08-04Nucleoside Therapy in Patients With Telomere Biology DisordersResults expected Q2 2028
- 2026-06-05Pilot Study of Quercetin Patients With Dyskeratosis Congenita/Telomere Biology DisordersResults expected Q3 2028
- 2026-03-27Radiation- and Alkylator-free Hematopoietic Cell Transplantation for Bone Marrow Failure Due to Dyskeratosis Congenita / Telomere DiseaseResults expected Q4 2026
- 2026-01-30MT2017-17:T Cell Receptor Alpha/Beta T Cell Depleted Hematopoietic Cell Transplantation in Patients With Inherited Bone Marrow Failure (BMF) DisordersResults expected Q1 2027
- 2025-11-28Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow FailuresResults expected Q4 2027
- 2026-08-04ClinicalNucleoside Therapy in Patients With Telomere Biology DisordersResults expected Q2 2028
- 2026-06-05ClinicalPilot Study of Quercetin Patients With Dyskeratosis Congenita/Telomere Biology DisordersResults expected Q3 2028
- 2026-03-27ClinicalRadiation- and Alkylator-free Hematopoietic Cell Transplantation for Bone Marrow Failure Due to Dyskeratosis Congenita / Telomere DiseaseResults expected Q4 2026
- 2026-01-30ClinicalMT2017-17:T Cell Receptor Alpha/Beta T Cell Depleted Hematopoietic Cell Transplantation in Patients With Inherited Bone Marrow Failure (BMF) DisordersResults expected Q1 2027
- 2025-11-28ClinicalRegenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow FailuresResults expected Q4 2027
Clinical trials
The current development programme across all trial phases.
Associated genes
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Disease biology
Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.
Reference
Authoritative identity, definition & identifiers.
A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.
DC, DKC, Zinsser-Engman-Cole syndrome, Hoyeraal-Hreidarsson syndrome, Zinsser Cole Engman syndrome
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Related entities are derived from literature co-mention (studied together) — associative, not causal.