ACD-related short telomere syndrome
MONDO:0100569Mondo
Findings
No curated finding names ACD-related short telomere syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A spectrum of conditions, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, hereditary aplastic anemia, and pulmonary fibrosis, typically characterized by shortened telomeres due to a pathogenic variant(s) in ACD that results in impaired telomere maintenance.
Definition from the Mondo Disease Ontology (MONDO:0100569), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ACDHGNC:25070
- Definitive · ClinGen · Semidominant · 2024
- Strong · PanelApp Australia · Semidominant · 2025