Traits

Traits linked to PSMB8

proteasome 20S subunit beta 8

The Human Phenotype Ontology links 76 traits to PSMB8, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Abnormally large tongue	Often (30–79%)
Pink eye	Often (30–79%)
Parotitis	Sometimes (5–29%)
Recurrent colds	Sometimes (5–29%)
Recurrent sinus disease	Sometimes (5–29%)
Decreased amount of facial fat	Not recorded
Full lower lip	Not recorded
Prominent nose	Not recorded

Abnormality of limbs

Trait	How often it is seen
Flexion contracture of finger	Always
Finger swelling	Very often (80–99%)
Bunion	Sometimes (5–29%)
Clubbing of fingers	Not recorded
Elbow flexion contracture	Not recorded
Flexion contracture of toe	Not recorded
Long fingers	Not recorded
Permanent flexion of the finger	Not recorded

Abnormality of the integument

Trait	How often it is seen
Skin plaque	Always
Excessive hair growth	Often (30–79%)
Darkened and thickened skin	Sometimes (5–29%)
Limited armpit hair	Sometimes (5–29%)
Premature aged appearance	Sometimes (5–29%)
Premature graying of hair	Sometimes (5–29%)
Patchy darkened skin	Not recorded
Stiff skin	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Flexed joint that cannot be straightened	Always
Inability to make and keep healthy fat tissue	Always
Basal ganglia calcification	Often (30–79%)
Muscle degeneration	Often (30–79%)
Bone pain	Sometimes (5–29%)
Small shoulder blade	Sometimes (5–29%)
Loss of fat tissue	Not recorded
Muscle weakness	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated circulating C-reactive protein concentration	Always
Episodic fever	Always
High liver enzymes	Very often (80–99%)
Decreased circulating high-density lipoprotein cholesterol	Often (30–79%)
High ESR	Often (30–79%)
Increased plasma triglycerides	Sometimes (5–29%)
Impaired glucose tolerance	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal heart rate	Often (30–79%)
Increased spleen size	Often (30–79%)
Swollen lymph nodes	Often (30–79%)
Cardiac failure	Not recorded
Enlarged heart	Not recorded
Redness of skin or mucous membrane	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Erythema nodosum	Always
Increased circulating interferon-gamma concentration	Always
Increased circulating interleukin 6 concentration	Always
Increased circulating interleukin 8 concentration	Always
Inflammation of fat tissue	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Often (30–79%)
Diminished deep tendon reflex	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Intellectual disability, mild	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Faltering weight	Often (30–79%)
Growth abnormality	Not recorded
Growth delay	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Increased circulating IgA concentration	Always
Increased circulating IgG concentration	Always
Increased antibody level in blood	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Belly sticks out	Often (30–79%)
Enlarged liver	Often (30–79%)
Chronic constipation	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Inflammation of the thin layer on top of the white part of eye	Often (30–79%)
Bulging eye	Sometimes (5–29%)
Punctate opacification of the cornea	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low platelet count	Sometimes (5–29%)
Microcytic anemia	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Often (30–79%)
Large ears	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Epididymitis	Often (30–79%)
Menstrual irregularity	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Enlarged male breast	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Elevated circulating thyroid-stimulating hormone concentration	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Joint pain	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 PSMB8 and how often each is seen. Find out more at hpo.jax.org.

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