dyskeratosis congenita, X-linked
MONDO:0010584Mondo
Findings
No curated finding names dyskeratosis congenita, X-linked yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked form of dyskeratosis congenita.
Definition from the Mondo Disease Ontology (MONDO:0010584), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Nail dystrophyHPOHP:0008404
- 3 of 3 reported patients
- Oral leukoplakiaHPOHP:0002745
- 3 of 3 reported patients · Early young adult onset
- Reticulated skin pigmentationHPOHP:0007427
- 3 of 3 reported patients
- Oropharyngeal squamous cell carcinomaHPOHP:0012182
- 1 of 3 reported patients
- ThrombocytopeniaHPOHP:0001873
- 1 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 0 of 3 reported patients
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 · 2025
- Definitive · G2P · X-linked · 2024
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
Where it sits
- Narrower terms (1)
Other names
5 names
Resolves to: dyskeratosis congenita, X-linked
- Also called
- DKCXdyskeratosis congenita, X-linked, X-linked recessiveHoyeraal Hreidarsson syndromeX-linked dyskeratosis congenitaZinsser-Cole-Engman syndrome