proteasome-associated autoinflammatory syndrome 4
MONDO:0030931Mondo
Findings
No curated finding names proteasome-associated autoinflammatory syndrome 4 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
HPO, annotations 2026-09-02
Features
16 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
- Autoimmune hemolytic anemiaHPOHP:0001890
- 1 of 1 reported patient
- Basal ganglia calcificationHPOHP:0002135
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- EdemaHPOHP:0000969
- 1 of 1 reported patient
- ErythemaHPOHP:0010783
- 1 of 1 reported patient
- Flexion contractureHPOHP:0001371
- 1 of 1 reported patient
- Generalized lipodystrophyHPOHP:0009064
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- LymphadenopathyHPOHP:0002716
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- MyositisHPOHP:0100614
- 1 of 1 reported patient
Show the remaining 4
- PanniculitisHPOHP:0012490
- 1 of 1 reported patient
- Recurrent feverHPOHP:0001954
- 1 of 1 reported patient
- Skeletal muscle atrophyHPOHP:0003202
- 1 of 1 reported patient
- 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.
- PSMG2HGNC:24929
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: proteasome-associated autoinflammatory syndrome 4
- Also called
- PRAAS4