Traits

Traits linked to PSMG2

proteasome assembly chaperone 2

The Human Phenotype Ontology links 16 traits to PSMG2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Basal ganglia calcification	Always
Flexed joint that cannot be straightened	Always
Generalized lipodystrophy	Always
Muscle degeneration	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Always
Redness of skin or mucous membrane	Always
Swollen lymph nodes	Always

Laboratory abnormality

Trait	How often it is seen
Acute phase response	Always
Episodic fever	Always
Fluid retention	Always

Abnormality of the immune system

Trait	How often it is seen
Inflammation of fat tissue	Always
Muscle inflammation	Always

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Motor delay	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Autoimmune hemolytic anemia	Always

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to PSMG2 and how often each is seen. Find out more at hpo.jax.org.

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