Traits

Traits linked to PDCD1

programmed cell death 1

The Human Phenotype Ontology links 61 traits to PDCD1, 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-insulin antibody positivity	Always
Extrapulmonary tuberculosis	Always
Immune dysregulation	Always
Antinuclear antibody positivity	Very often (80–99%)
Anti-complement component C1q antibody positivity	Often (30–79%)
Anti-ribosome Po antibody positivity	Often (30–79%)
Anti-titin antibody positivity	Often (30–79%)
Antineutrophil antibody positivity	Often (30–79%)
Decreased circulating complement C3 concentration	Often (30–79%)
Decreased circulating complement C4 concentration	Often (30–79%)
Malar rash	Often (30–79%)
Anti-dsDNA antibody positivity	Sometimes (5–29%)
Anti-La/SS-B antibody positivity	Sometimes (5–29%)
Anti-nucleoporin 62 antibody positivity	Sometimes (5–29%)
Anti-phosphatidic acid antibody positivity	Sometimes (5–29%)
Anti-Ro52/TRIM21 antibody positivity	Sometimes (5–29%)
Anti-Sm antibody positivity	Sometimes (5–29%)
Anti-U1 ribonucleoprotein antibody positivity	Sometimes (5–29%)
Discoid lupus rash	Sometimes (5–29%)
Serositis	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay	Always
Type 1 diabetes	Always
Fever	Very often (80–99%)
High urine protein levels	Very often (80–99%)
Blood in urine	Often (30–79%)
High urine neutrophil count	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bone marrow failure	Always
Diffuse alveolar hemorrhage	Always
Decreased blood leukocyte number	Often (30–79%)
Hemolytic anemia	Sometimes (5–29%)
Low platelet count	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal color of the oral mucosa	Sometimes (5–29%)
Abnormality of salivation	Sometimes (5–29%)
Inflammation of the lips	Sometimes (5–29%)
Mouth sore	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Always
High blood pressure	Often (30–79%)
Raynaud phenomenon	Often (30–79%)
Swollen lymph nodes	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Peritoneal abscess	Always
Anorexia	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Warts	Always
Hair loss	Often (30–79%)
Photosensitive skin	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Depression	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Chorea	Rarely (1–4%)

Abnormal cellular phenotype

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	Always
Polyarticular arthritis	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Ground-glass opacification	Always
Respiratory failure	Always

Constitutional symptom

Trait	How often it is seen
Fatigue	Very often (80–99%)
Malaise	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Always

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Always

Abnormality of the eye

Trait	How often it is seen
Noninflammatory retina disease	Rarely (1–4%)

Abnormality of the genitourinary system

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

Growth abnormality

Trait	How often it is seen
Weight loss	Very often (80–99%)

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 PDCD1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test