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DKC1

—Dyskerin Pseudouridine Synthase 1

Chromosome: X

Location: X:154762741-154777697

OMIM: 300126

Ensembl: ENSG00000130826

Official·OMIM:300126 Official·ENSG00000130826

Encodes telomerase complex member. Mutations cause dyskeratosis congenita.

Treatment Roadmap — DKC1

Preclinical

Phase 1

Phase 2

Phase 3

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Dyskeratosis Congenita

X-Linked RecessivePrevalence: 1/1000000hematologic

Official·OMIM:305000 Official·ORPHA1775

Summary

Clinical Trial

Approved Therapy

Registered Variant