Traits

Traits linked to POMP

proteasome maturation protein

The Human Phenotype Ontology links 37 traits to POMP, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the immune system

Trait	How often it is seen
Anti-beta-2-Glycoprotein I IgG antibody positivity	Always
Anti-thyroglobulin antibody positivity	Always
Antinuclear antibody positivity	Always
Neutrophilic infiltration of the skin	Always
Recurrent bacterial infections	Always
Recurrent viral infections	Always
Skin rash	Always
Anti-thyroid peroxidase antibody positivity	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Annular cutaneous lesion	Always
Firm lump under the skin	Always
Increased nail curvature	Always
Ichthyosis	Very often (80–99%)
Congenital nonbullous ichthyosiform erythroderma	Not recorded
Linear arrays of macular hyperkeratoses in flexural areas	Not recorded
Parakeratosis	Not recorded
Poor nail formation	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased memory B cell proportion	Always
Increased CD4:CD8 ratio	Always
Low B cell count	Always
Low platelet count	Always

Abnormality of limbs

Trait	How often it is seen
Thickening of palms and soles	Very often (80–99%)
Curvature of digit	Not recorded
Honeycomb palmoplantar hyperkeratosis	Not recorded
Short fingers or toes	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Abnormal circulating IgM concentration	Always
Increased circulating IgA concentration	Always
Increased circulating IgG concentration	Always

Laboratory abnormality

Trait	How often it is seen
Elevated circulating C-reactive protein concentration	Always
Fever	Always
High ESR	Always

Abnormality of head or neck

Trait	How often it is seen
Periorbital edema	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Amniotic constriction ring	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Swollen lymph nodes	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Inability to make and keep healthy fat tissue	Always

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Joint pain	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	Not recorded

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 POMP and how often each is seen. Find out more at hpo.jax.org.

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