Immunodeficiency-centromeric instability-facial anomalies syndrome 4

MONDO:0014829

Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.

Also known as: HELLS immunodeficiency-centromeric instability-facial anomalies syndrome, immunodeficiency-centromeric instability-Facial anomalies syndrome 4, immunodeficiency-centromeric instability-Facial anomalies syndrome type 4, immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS, immunodeficiency-centromeric instability-facial anomalies syndrome type 4, ICF4, immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4

2 clinical trials for this condition and its sub-types, 0 tagged with Immunodeficiency-centromeric instability-facial anomalies syndrome 4 itself.

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Where it sits in the disease tree

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Part of

↑ Immunodeficiency-centromeric instability-facial anomalies syndrome (1)

Including sub-types (2) Tagged with Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (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

Immunodeficiency-centromeric instability-facial anomalies syndrome 4

Where it sits in the disease tree

Hormone drug may slow Aging-Related diseases in rare condition