Traits

Traits linked to SPIB

Spi-B transcription factor

The Human Phenotype Ontology links 41 traits to SPIB, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the digestive system

Trait	How often it is seen
Biliary cirrhosis	Very often (80–99%)
Scar tissue replaces healthy tissue in the liver	Very often (80–99%)
Abnormal intrahepatic bile duct morphology	Often (30–79%)
Enlarged liver	Often (30–79%)
Hepatic fibrosis	Often (30–79%)
Hepatocellular carcinoma	Often (30–79%)
Jaundice	Often (30–79%)
Liver failure	Often (30–79%)
Abdominal bloating	Sometimes (5–29%)
Accumulation of fluid in the abdomen	Sometimes (5–29%)
Celiac disease	Sometimes (5–29%)
Enlarged vein in esophagus	Sometimes (5–29%)
Fat in feces	Sometimes (5–29%)
Liver inflammation	Sometimes (5–29%)
Gastrointestinal inflammation	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Conjugated hyperbilirubinemia	Very often (80–99%)
Abnormal circulating lipid concentration	Often (30–79%)
Elevated alkaline phosphatase	Often (30–79%)
Elevated gamma-glutamyltransferase level	Often (30–79%)
Elevated serum cholesterol	Often (30–79%)
Low albumin	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Antimitochondrial antibody positivity	Very often (80–99%)
Antinuclear antibody positivity	Often (30–79%)
Autoimmunity	Often (30–79%)
Recurrent fungal infections	Often (30–79%)
Unusual fungal nail infection	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Skin writing	Very often (80–99%)
Decrease in blood pressure upon standing up	Often (30–79%)
Portal hypertension	Often (30–79%)
Increased spleen size	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Difficulty sleeping	Sometimes (5–29%)
Excessive daytime sleepiness	Sometimes (5–29%)
Hepatic encephalopathy	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Increased circulating IgM concentration	Often (30–79%)
Increased circulating IgA concentration	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Patchy darkened skin	Very often (80–99%)
Itching	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Fatty deposits in skin around the eyes	Often (30–79%)

Abnormality of the endocrine system

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

Abnormality of the musculoskeletal system

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

Constitutional symptom

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

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 SPIB 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