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ACD-related short telomere syndrome

MONDO:0100569

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.

2 clinical trials for this condition and its sub-types, 0 tagged with ACD-related short telomere syndrome itself.

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Where it sits in the disease tree

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↑ ACD-related telomere biology disorder (0)

Sub-types of ACD-related short telomere syndrome

Dyskeratosis congenita, autosomal dominant 6 0 trials
Dyskeratosis congenita, autosomal recessive 7 0 trials

Including sub-types (2) Tagged with ACD-related short telomere syndrome (0)

Not yet finished but already full! 1 Completed 1

Hormone drug may slow Aging-Related diseases in rare condition

Disease control Completed

This study tested whether low doses of the hormone drug danazol can slow the shortening of telomeres—the protective caps on DNA—in people with telomere diseases. These conditions can cause bone marrow failure, lung scarring, and liver damage. Eighteen participants took danazol fo…

Phase 2 • Sponsor: National Heart, Lung, and Blood Institute (NHLBI) • Aim: Disease control

Last updated Jun 27, 2026 14:02 UTC