dyskeratosis congenita, autosomal dominant 3
Findings
No curated finding names dyskeratosis congenita, autosomal dominant 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.
Definition from the Mondo Disease Ontology (MONDO:0013522), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
26 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.
- Decreased total leukocyte countHPOHP:0001882
- 2 of 2 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 2 of 2 reported patients
- Macrocytic anemiaHPOHP:0001972
- 2 of 2 reported patients
- Nail dystrophyHPOHP:0008404
- 2 of 2 reported patients
- PancytopeniaHPOHP:0001876
- 2 of 2 reported patients
- Short telomere lengthHPOHP:0031413
- 11 of 12 reported patients
- Nail dysplasiaHPOHP:0002164
Show the remaining 14
- AnemiaHPOHP:0001903
- 1 of 2 reported patients
- EpiphoraHPOHP:0009926
- 7 of 14 reported patients
- Esophageal strictureHPOHP:0002043
- 1 of 2 reported patients
- Gastrointestinal hemorrhageHPOHP:0002239
- 1 of 2 reported patients
- OsteopeniaHPOHP:0000938
- 1 of 2 reported patients
- Decreased DLCOHPOHP:0045051
- 4 of 12 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.
- TINF2HGNC:11824
- Definitive · ClinGen · Autosomal dominant · 2025
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Ambry Genetics · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: dyskeratosis congenita, autosomal dominant 3
- Also called
- DKCA3dyskeratosis congenita, autosomal dominant type 3