autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
MONDO:0800132Mondo
Findings
No curated finding names autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
21 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.
- Cholestatic liver diseaseHPOHP:0002611
- 3 of 3 reported patients
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
- Delayed gross motor developmentHPOHP:0002194
- 1 of 1 reported patient
- FeverHPOHP:0001945
- 1 of 1 reported patient
- GranulomaHPOHP:0032252
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- HemophagocytosisHPOHP:0012156
- 1 of 1 reported patient
- Hepatic fibrosisHPOHP:0001395
- 2 of 2 reported patients
- HepatosplenomegalyHPOHP:0001433
- 3 of 3 reported patients · Neonatal onset
- 1 of 1 reported patient
- Intestinal inflammationHPOHP:4000055
- 1 of 1 reported patient
- Membranoproliferative glomerulonephritisHPOHP:0000793
- 2 of 2 reported patients
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
Show the remaining 9
- PancytopeniaHPOHP:0001876
- 3 of 3 reported patients · Neonatal onset
- 1 of 1 reported patient
- ProteinuriaHPOHP:0000093
- 3 of 3 reported patients
- Recurrent feverHPOHP:0001954
- 3 of 3 reported patients
- Severe Epstein Barr virus infectionHPOHP:0031693
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 2 of 4 reported patients
- ArthropathyHPOHP:0003040
- 1 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.
- DNASE2HGNC:2960
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of