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proteasome-associated autoinflammatory syndrome 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

proteasome-associated autoinflammatory syndrome 5

MONDO:0030924

Also known as:PRAAS5

Overview

GeneticsAutosomal recessive · PSMB10 (chr 16)

OnsetNEONATAL

ResearchLimited published research (2 articles)

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: Failure to thrive in infancy, Hypertriglyceridemia, Acute phase response, and Enlarged liver (hepatomegaly) and others.

Organ System	Phenotype Count	Example Features
Digestive system	2	Enlarged liver (hepatomegaly), Enlarged spleen (splenomegaly)

Genetic Landscape

PSMB10 function has not been fully characterized.

Proteasome-associated autoinflammatory syndrome 5 is associated with mutations in the PSMB10 gene on chromosome 16.

Diagnosis

Genetic testing for PSMB10 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for proteasome-associated autoinflammatory syndrome 5.

2 publications have been identified in PubMed for proteasome-associated autoinflammatory syndrome 5. Research spans Review / Meta-Analysis (100%).

Recent Publications

Singh S (2026). [PMID: 41466885](https://pubmed.ncbi.nlm.nih.gov/41466885/). *Journal of translational autoimmunity*. [Review / Meta-Analysis]
Kanegane H (2025). [PMID: 40498270](https://pubmed.ncbi.nlm.nih.gov/40498270/). *International journal of hematology*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619175

GARD

Genetic and Rare Diseases Info Center

GARD:18448

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 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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