Traits

Traits linked to ABCB11

ATP binding cassette subfamily B member 11

The Human Phenotype Ontology links 43 traits to ABCB11, 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
Diarrhea	Always
Enlarged liver	Always
Jaundice	Always
Portal fibrosis	Always
Scar tissue replaces healthy tissue in the liver	Always
Abnormality of the digestive system	Often (30–79%)
Accumulation of fluid in the abdomen	Often (30–79%)
Bile duct proliferation	Often (30–79%)
Portal inflammation	Often (30–79%)
Impaired release of bile from liver	Sometimes (5–29%)
Abdominal pain	Rarely (1–4%)
Abnormality of the pancreas	Rarely (1–4%)
Gallbladder inflammation	Rarely (1–4%)
Fat malabsorption	Not recorded
Gallstones	Not recorded
Hepatocellular carcinoma	Not recorded
Intermittent yellow skin	Not recorded
Malabsorption	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated gamma-glutamyltransferase level	Always
High liver enzymes	Always
Increased serum bile acid concentration	Very often (80–99%)
Elevated alkaline phosphatase	Sometimes (5–29%)
High blood bilirubin levels	Sometimes (5–29%)
Conjugated hyperbilirubinemia	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Difficulty staying or falling asleep	Often (30–79%)
Depression	Sometimes (5–29%)
Asterixis	Rarely (1–4%)
Tremor	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Abnormal circulating interleukin concentration	Sometimes (5–29%)
Autoimmunity	Not recorded
Skin rash	Not recorded

Abnormality of the integument

Trait	How often it is seen
Itching	Always
Itchy feet	Sometimes (5–29%)
Itchy palm	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Small for gestational age	Rarely (1–4%)
Faltering weight	Not recorded
Short stature	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Meconium stained amniotic fluid	Sometimes (5–29%)
Premature birth	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormal pineal melatonin secretion	Sometimes (5–29%)
Underactive thyroid	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Always

Abnormality of the respiratory system

Trait	How often it is seen
Neonatal respiratory distress	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 ABCB11 and how often each is seen. Find out more at hpo.jax.org.

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