proteasome-associated autoinflammatory syndrome 5
MONDO:0030924Mondo
Findings
No curated finding names proteasome-associated autoinflammatory syndrome 5 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
- Neonatal onset
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.
- Acute phase responseHPOHP:0033331
- 1 of 1 reported patient
- Failure to thrive in infancyHPOHP:0001531
- 1 of 1 reported patient
- FeverHPOHP:0001945
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- HypertriglyceridemiaHPOHP:0002155
- 1 of 1 reported patient
- Skin rashHPOHP:0000988
- 1 of 1 reported patient · Neonatal onset
- SplenomegalyHPOHP:0001744
- 1 of 1 reported patient
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.
- PSMB10HGNC:9538
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
1 name
Resolves to: proteasome-associated autoinflammatory syndrome 5
- Also called
- PRAAS5