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A reference for what the literature reports. Not medical advice.

Disease

DKC1-related disorder

MONDO:0100152Mondo

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Findings

No curated finding names DKC1-related disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene.

Definition from the Mondo Disease Ontology (MONDO:0100152), 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.

DKC1HGNC:2890
- Definitive · ClinGen · X-linked · 2020
- Strong · PanelApp Australia · X-linked · 2025

Where it sits

A kind of: dyskeratosis congenita
Narrower terms (1): dyskeratosis congenita, X-linked