dyskeratosis congenita, autosomal dominant 6
Findings
No curated finding names dyskeratosis congenita, autosomal dominant 6 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 ACD on chromosome 16q22.1.
Definition from the Mondo Disease Ontology (MONDO:0014690), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
3 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.
- Short telomere lengthHPOHP:0031413
- 3 of 3 reported patients
- Aplastic anemiaHPOHP:0001915
- 2 of 3 reported patients
- Bone marrow hypocellularityHPOHP:0005528
- 2 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.
- ACDHGNC:25070
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Moderate · G2P · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: dyskeratosis congenita, autosomal dominant 6
- Also called
- DKCA6dyskeratosis congenita, autosomal dominant type 6