dyskeratosis congenita, autosomal recessive 3
Findings
No curated finding names dyskeratosis congenita, autosomal recessive 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 recessive mutation of WRAP53 on chromosome 17p13.1.
Definition from the Mondo Disease Ontology (MONDO:0013520), 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.
- Abnormal skin pigmentationHPOHP:0001000
- 2 of 2 reported patients
- Bone marrow hypocellularityHPOHP:0005528
- 2 of 2 reported patients
- Nail dystrophyHPOHP:0008404
- 2 of 2 reported patients
- Oral leukoplakiaHPOHP:0002745
- 2 of 2 reported patients
- Short telomere lengthHPOHP:0031413
- 2 of 2 reported patients
- Squamous cell carcinoma of the tongueHPOHP:0030413
- 1 of 2 reported patients
- PancytopeniaHPOHP:0001876
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.
- WRAP53HGNC:25522
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Moderate · ClinGen · Autosomal recessive · 2026
Where it sits
Other names
2 names
Resolves to: dyskeratosis congenita, autosomal recessive 3
- Also called
- DKCB3dyskeratosis congenita, autosomal recessive type 3