Traits

Traits linked to SPI1

Spi-1 proto-oncogene

The Human Phenotype Ontology links 36 traits to SPI1, by body system: features seen in people with one of the gene's rare conditions.

SPI1

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Always
Decreased immune function	Very often (80–99%)
Recurrent infections	Very often (80–99%)
Recurrent skin infections	Very often (80–99%)
Skin rash	Very often (80–99%)
Bone infection	Often (30–79%)
Infection in blood stream	Sometimes (5–29%)
Meningitis	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Recurrent sinus disease	Always
Pink eye	Very often (80–99%)
Sinus disease	Very often (80–99%)
Eye folds	Sometimes (5–29%)
High palate	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Agammaglobulinemia	Always
Decreased circulating IgA concentration	Always
Decreased circulating IgM concentration	Always
Decreased circulating IgG concentration	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Absent circulating B cells	Always
Low blood neutrophil count	Sometimes (5–29%)
Transiently decreased total neutrophil count	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Diarrhea	Very often (80–99%)
Liver inflammation	Sometimes (5–29%)
Malabsorption	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Fever	Very often (80–99%)
Dehydration	Sometimes (5–29%)
Type 1 diabetes	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Chronic infections of the middle ear	Very often (80–99%)
Abnormally shaped ears	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	Often (30–79%)
Bacterial infection of skin	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Cough	Very often (80–99%)
Permanent enlargement of the airways of the lungs	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Warts	Sometimes (5–29%)

Constitutional symptom

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

Growth abnormality

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

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 SPI1 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