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proteasome-associated autoinflammatory syndrome 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

proteasome-associated autoinflammatory syndrome 4

MONDO:0030931

Also known as:PRAAS4

Overview

GeneticsAutosomal recessive · PSMG2 (chr 18)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Basal ganglia calcification, Skeletal muscle atrophy, Delayed speech and language development, and Flexion contracture and others.

Organ System	Phenotype Count	Example Features
Muscles	2	Skeletal muscle atrophy, Flexion contracture

Genetic Landscape

PSMG2 function has not been fully characterized.

Proteasome-associated autoinflammatory syndrome 4 is associated with mutations in the PSMG2 gene on chromosome 18.

Diagnosis

Genetic testing for PSMG2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 16 always present features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619183

GARD

Genetic and Rare Diseases Info Center

GARD:18449

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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proteasome-associated autoinflammatory syndrome 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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