proteasome-associated autoinflammatory syndrome 1
MONDO:0054698Mondo
Findings
No curated finding names proteasome-associated autoinflammatory syndrome 1 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
- Infantile onset · Death in adolescence · Childhood onset
HPO, annotations 2026-09-02
Features
59 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.
- ArthralgiaHPOHP:0002829
- 9 of 9 reported patients
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 12 of 12 reported patients
- Erythema nodosumHPOHP:0012219
- 3 of 3 reported patients
- Flexion contractureHPOHP:0001371
- 12 of 12 reported patients
- Flexion contracture of fingerHPOHP:0012785
- 3 of 3 reported patients
- Increased circulating IgA concentrationHPOHP:0003261
- 3 of 3 reported patients
- Increased circulating IgG concentrationHPOHP:0003237
- 3 of 3 reported patients
- Increased circulating interferon-gamma concentrationHPOHP:0030356
- 2 of 2 reported patients
- Increased circulating interleukin 6 concentrationHPOHP:0030783
- 2 of 2 reported patients
- Increased circulating interleukin 8 concentrationHPOHP:0033178
- 2 of 2 reported patients
- LipodystrophyHPOHP:0009125
- 12 of 12 reported patients · Childhood onset
- 3 of 3 reported patients
- 9 of 9 reported patients
- Recurrent feverHPOHP:0001954
- 12 of 12 reported patients
Show the remaining 47
- Skin plaqueHPOHP:0200035
- 9 of 9 reported patients
- Short statureHPOHP:0004322
- 11 of 12 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 8 of 9 reported patients
- HepatomegalyHPOHP:0002240
- 19 of 24 reported patients
- LymphadenopathyHPOHP:0002716
- 7 of 9 reported patients
- Protuberant abdomenHPOHP:0001538
- 7 of 9 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.
- PSMB8HGNC:9545
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: proteasome-associated autoinflammatory syndrome 1
- Also called
- PRAAS1proteasome-associated autoinflammatory syndrome 1 and digenic forms