dyskeratosis congenita, autosomal recessive 1
Findings
No curated finding names dyskeratosis congenita, autosomal recessive 1 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 recessive mutation of NOLA3 on chromosome 15q14.
Definition from the Mondo Disease Ontology (MONDO:0009136), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
7 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
- Palmoplantar hyperkeratosisHPOHP:0000972
- 3 of 3 reported patients
- Reticular hyperpigmentationHPOHP:0007588
- 3 of 3 reported patients
- Aplastic anemiaHPOHP:0001915
- 1 of 3 reported patients
- Bone marrow hypocellularityHPOHP:0005528
- 1 of 3 reported patients
- PancytopeniaHPOHP:0001876
- 1 of 3 reported patients
- Oral leukoplakiaHPOHP:0002745
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.
- NOP10HGNC:14378
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · G2P · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
2 names
Resolves to: dyskeratosis congenita, autosomal recessive 1
- Also called
- DKCB1dyskeratosis congenita, autosomal recessive type 1