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proteasome-associated autoinflammatory syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

proteasome-associated autoinflammatory syndrome 2

MONDO:0054700

Also known as:PRAAS2

Overview

GeneticsAutosomal dominant · POMP (chr 13)

ResearchLimited published research (1 article)

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: Antinuclear antibody positivity, Decreased proportion of memory B cells, Recurrent bacterial infections, and Lipodystrophy and others; and common findings: Seizure and Anti-thyroid peroxidase antibody positivity. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	7	Antinuclear antibody positivity, Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody positivity

Genetic Landscape

POMP function has not been fully characterized.

Proteasome-associated autoinflammatory syndrome 2 is associated with mutations in the POMP gene on chromosome 13.

Diagnosis

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

Prognosis

Phenotype severity distribution: 21 always present features, 2 common 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 2.

1 publication has been identified in PubMed for proteasome-associated autoinflammatory syndrome 2. Research spans Review / Meta-Analysis (100%).

Recent Publications

Singh S (2026). [PMID: 41466885](https://pubmed.ncbi.nlm.nih.gov/41466885/). *J Transl Autoimmun*. [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:618048

GARD

Genetic and Rare Diseases Info Center

GARD:18447

Questions for Your Care Team

→Should I pursue genetic testing for POMP, and what would the results mean for my family?
→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 2

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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