Traits

Traits linked to PRF1

perforin 1

The Human Phenotype Ontology links 77 traits to PRF1, by body system: features seen in people with one of the gene's rare conditions.

PRF1

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Aplastic anemia	Always
Low blood cell count	Always
Low number of red blood cells or hemoglobin	Always
Low platelet count	Always
Abnormality of multiple cell lineages in the bone marrow	Very often (80–99%)
Bone marrow failure	Very often (80–99%)
Hemophagocytosis	Very often (80–99%)
Hypofibrinogenemia	Very often (80–99%)
Abnormality of the coagulation cascade	Often (30–79%)
Blood spots	Often (30–79%)
Ecchymosis	Often (30–79%)
Low blood neutrophil count	Often (30–79%)
Petechiae	Often (30–79%)
Reticulocytopenia	Often (30–79%)
Bleeding gums	Sometimes (5–29%)
Bloody nose	Sometimes (5–29%)
Bruising susceptibility	Sometimes (5–29%)
Retinal bleeding	Sometimes (5–29%)
Cancer of lymphatic system	Not recorded
Decreased blood leukocyte number	Not recorded
Prolonged prothrombin time	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Always
CNS demyelination	Always
Rise in pressure inside skull	Always
CSF pleocytosis	Often (30–79%)
Abnormal cerebral white matter morphology	Sometimes (5–29%)
Abnormality of the nervous system	Sometimes (5–29%)
Coma	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)
Global developmental delay	Not recorded
Irritability	Not recorded
Paralysis of all four limbs	Not recorded
Paralysis on one side of body	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Abnormal circulating cytokine concentration	Very often (80–99%)
Abnormality of tumor necrosis factor secretion	Very often (80–99%)
Immune dysregulation	Very often (80–99%)
Increased circulating interferon-gamma concentration	Very often (80–99%)
Increased circulating interleukin 6 concentration	Often (30–79%)
Red scaly skin caused by inflammatory skin disease	Often (30–79%)
Skin rash	Often (30–79%)
Brain inflammation	Sometimes (5–29%)
Maculopapular exanthema	Sometimes (5–29%)
Recurrent infections	Sometimes (5–29%)
Autoimmune antibody positivity	Not recorded
Meningitis	Not recorded

Laboratory abnormality

Trait	How often it is seen
Episodic fever	Always
High bili total	Always
High liver enzymes	Always
Increased CSF protein concentration	Always
Elevated serum ferritin	Very often (80–99%)
Fever	Very often (80–99%)
Low albumin	Very often (80–99%)
Fluid retention	Often (30–79%)
Increased plasma triglycerides	Often (30–79%)
Decreased protein levels in blood	Not recorded
Generalized edema	Not recorded
Low blood sodium levels	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Jaundice	Very often (80–99%)
Cholestatic liver disease	Often (30–79%)
Decreased liver function	Often (30–79%)
Colitis	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Functional motor deficit	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded
Low muscle tone	Not recorded
Spasticity and rigidity of muscles	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Always
Increased spleen size	Very often (80–99%)
Swollen lymph nodes	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Abnormal natural killer cell physiology	Always
Decreased circulating antibody level	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal kidney function	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Abnormal skin structure	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality of the respiratory system	Often (30–79%)

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 PRF1 and how often each is seen. Find out more at hpo.jax.org.

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