dyskeratosis congenita
Findings
No curated finding names dyskeratosis congenita yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.
Definition from the Mondo Disease Ontology (MONDO:0015780), read 2026-09-29. CC BY 4.0.
Features
65 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.
- Abnormal blistering of the skinHPOHP:0008066
- Very frequent (80% to 99% of cases)
- Abnormal fingernail morphologyHPOHP:0001231
- Very frequent (80% to 99% of cases)
- Abnormality of neutrophilsHPOHP:0001874
- Very frequent (80% to 99% of cases)
- AnemiaHPO · MondoHP:0001903
- Very frequent (80% to 99% of cases)
- Hypermelanotic maculeHPOHP:0001034
- Very frequent (80% to 99% of cases)
- MaculeHPOHP:0012733
- Very frequent (80% to 99% of cases)
- Nail dystrophyHPOHP:0008404
- Very frequent (80% to 99% of cases)
- Oral leukoplakiaHPOHP:0002745
- Very frequent (80% to 99% of cases)
- ThrombocytopeniaHPOHP:0001873
- Very frequent (80% to 99% of cases)
- Abnormal morphology of female internal genitaliaHPOHP:0000008
- Frequent (30% to 79% of cases)
- Abnormality of coagulationHPOHP:0001928
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
Show the remaining 53
- Abnormality of the pharynxHPOHP:0000600
- Frequent (30% to 79% of cases)
- Anorectal anomalyHPOHP:0012732
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the skinHPOHP:0008065
- Frequent (30% to 79% of cases)
- Aplastic/hypoplastic toenailHPOHP:0010624
- Frequent (30% to 79% of cases)
- Bone marrow hypocellularityHPOHP:0005528
- Frequent (30% to 79% of cases)
- Carious teethHPOHP:0000670
- Frequent (30% to 79% of cases)
Genes
11 genes
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.
- CTC1HGNC:26169
- Definitive · G2P · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- NPM1HGNC:7910
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- DKC1HGNC:2890
- Supportive · Orphanet · Autosomal dominant · 2021
- NHP2HGNC:14377
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (16)
- autosomal recessive dyskeratosis congenita 4
- DKC1-related disorder
- dyskeratosis congenita and related telomere biology disorder
- dyskeratosis congenita, autosomal dominant 1
- dyskeratosis congenita, autosomal dominant 2
- dyskeratosis congenita, autosomal dominant 3
- dyskeratosis congenita, autosomal dominant 4
- dyskeratosis congenita, autosomal dominant 6
- dyskeratosis congenita, autosomal recessive 1
- dyskeratosis congenita, autosomal recessive 2
- dyskeratosis congenita, autosomal recessive 3
- dyskeratosis congenita, autosomal recessive 6
- dyskeratosis congenita, autosomal recessive 7
- dyskeratosis congenita, autosomal recessive 8
- dyskeratosis congenita, digenic
- Revesz syndrome
Other names
3 names
Resolves to: dyskeratosis congenita
- Also called
- DCDKCZinsser-Engman-Cole syndrome