Traits

Traits linked to HNF4A

hepatocyte nuclear factor 4 alpha

The Human Phenotype Ontology links 71 traits to HNF4A, by body system: features seen in people with one of the gene's rare conditions.

HNF4A

Laboratory abnormality

Trait	How often it is seen
Elevated alkaline phosphatase	Always
Glucose in urine	Always
High liver enzymes	Always
High urine protein levels	Always
Low blood phosphate level	Always
Low blood sugar	Always
Metabolic acidosis	Always
Abnormal circulating fatty acid concentration	Very often (80–99%)
Hyperinsulinemia	Very often (80–99%)
Hyperinsulinemic hypoglycemia	Very often (80–99%)
Hypoketotic hypoglycemia	Very often (80–99%)
Low blood sugar in newborn	Very often (80–99%)
Low blood sugar when fasting	Very often (80–99%)
Abnormal circulating C-peptide concentration	Often (30–79%)
Abnormal oral glucose tolerance	Often (30–79%)
Glucose intolerance	Often (30–79%)
High blood sugar	Often (30–79%)
Increased hepatic glycogen content	Often (30–79%)
Metabolic ketoacidosis	Often (30–79%)
Renal Fanconi syndrome	Often (30–79%)
Diabetes mellitus	Sometimes (5–29%)
Insulin resistant diabetes	Sometimes (5–29%)
Transient neonatal diabetes mellitus	Sometimes (5–29%)
Abnormal urinary amino-acid findings	Not recorded
Body fails to respond to insulin	Not recorded
Diabetic ketoacidosis	Not recorded
High urine phosphate levels	Not recorded
Low blood uric acid levels	Not recorded
Maturity-onset diabetes of the young	Not recorded
Noninsulin-dependent diabetes	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Agitation	Very often (80–99%)
Coma	Very often (80–99%)
Drowsiness	Very often (80–99%)
Lethargy	Very often (80–99%)
Tremor	Very often (80–99%)
Epilepsy	Often (30–79%)
Intellectual disability	Often (30–79%)
Worsening neurological symptoms	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Pancreatic islet-cell hyperplasia	Very often (80–99%)
Diarrhea	Often (30–79%)
Vomiting	Often (30–79%)
Hepatocellular adenoma	Rarely (1–4%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Rarely (1–4%)
Underdeveloped pancreas	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Birth weight > 90th percentile	Always
Increased body weight	Very often (80–99%)
Overweight	Sometimes (5–29%)
Prenatal growth deficiency	Sometimes (5–29%)
Obesity	Rarely (1–4%)
Increased waist to hip ratio	Not recorded
Short stature	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney damage	Sometimes (5–29%)
Abnormality of the genitourinary system	Rarely (1–4%)
Abnormality of the kidney	Rarely (1–4%)
Cystic kidney disease	Rarely (1–4%)
Increased calcium level in kidney	Not recorded

Abnormality of the integument

Trait	How often it is seen
Excessive sweating	Very often (80–99%)
Paleness	Very often (80–99%)
Darkened and thickened skin	Not recorded
Flushing	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Weak and soft bones	Always
Low muscle tone, in neonatal onset	Very often (80–99%)
Hypophosphatemic rickets	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormal circulating insulin concentration	Often (30–79%)
Hypoinsulinemia	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated hemoglobin A1c	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Elevated heart rate	Very often (80–99%)

Abnormality of the eye

Trait	How often it is seen
Noninflammatory retina disease	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Autoimmune antibody positivity	Not recorded

Constitutional symptom

Trait	How often it is seen
Fatigue	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 HNF4A 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