proteasome-associated autoinflammatory syndrome 6
MONDO:0968983Mondo
Findings
No curated finding names proteasome-associated autoinflammatory syndrome 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
39 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.
- Basal ganglia calcificationHPOHP:0002135
- 3 of 3 reported patients
- Decreased gamma-delta T cell proportionHPOHP:0500271
- 2 of 2 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 3 of 3 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 3 of 3 reported patients
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 3 of 3 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 3 of 3 reported patients
- Elevated circulating D-dimer concentrationHPOHP:0033106
- 1 of 1 reported patient
- Elevated circulating myoglobin concentrationHPOHP:0033438
- 1 of 1 reported patient
- Elevated circulating sCD25 concentrationHPOHP:0033833
- 1 of 1 reported patient
- FeverHPOHP:0001945
- 3 of 3 reported patients
- Increased circulating ferritin concentrationHPOHP:0003281
- 2 of 2 reported patients
- Increased circulating interferon-gamma concentrationHPOHP:0030356
- 3 of 3 reported patients
Show the remaining 27
- Increased circulating interleukin 18 concentrationHPOHP:0034447
- 2 of 2 reported patients
- Increased circulating interleukin 6 concentrationHPOHP:0030783
- 2 of 2 reported patients
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 1 of 1 reported patient
- Increased circulating troponin T concentrationHPOHP:0410174
- 1 of 1 reported patient
- Increased CSF protein concentrationHPOHP:0002922
- 2 of 2 reported patients
- MyositisHPOHP:0100614
- 3 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.
- PSMB9HGNC:9546
- Strong · PanelApp Australia · Autosomal dominant · 2025