dyskeratosis congenita, autosomal recessive 2
Findings
No curated finding names dyskeratosis congenita, autosomal recessive 2 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 NOLA2 on chromosome 5q35.3.
Definition from the Mondo Disease Ontology (MONDO:0013519), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
12 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.
- Bone marrow hypocellularityHPOHP:0005528
- 1 of 1 reported patient
- Nail dystrophyHPOHP:0008404
- 2 of 2 reported patients
- Cerebral calcificationHPOHP:0002514
- 1 of 2 reported patients
- CirrhosisHPOHP:0001394
- 1 of 2 reported patients
- Growth delayHPOHP:0001510
- 1 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 1 of 2 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.
- NHP2HGNC:14377
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · G2P · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: dyskeratosis congenita, autosomal recessive 2
- Also called
- DKCB2dyskeratosis congenita, autosomal recessive type 2