Traits

Traits linked to G6PC3

glucose-6-phosphatase catalytic subunit 3

The Human Phenotype Ontology links 51 traits to G6PC3, by body system: features seen in people with one of the gene's rare conditions.

G6PC3

Abnormality of the cardiovascular system

Trait	How often it is seen
Prominent veins	Often (30–79%)
Secundum atrial septal defect	Often (30–79%)
Cor triatriatum	Sometimes (5–29%)
Enlarged liver and spleen	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Narrowing of pulmonic valve	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Not recorded
Increased spleen size	Not recorded
Small thymus	Not recorded
Varicose veins	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low blood neutrophil count	Always
Intermittent thrombocytopenia	Often (30–79%)
Decreased blood leukocyte number	Not recorded
Decreased blood lymphocyte number	Not recorded
Erythroid hypoplasia	Not recorded
High blood monocyte number	Not recorded
Low number of red blood cells or hemoglobin	Not recorded
Low platelet count	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Mouth sore	Sometimes (5–29%)
Recurrent colds	Sometimes (5–29%)
High palate	Not recorded
Wide nasal bridge	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Neonatal sepsis	Often (30–79%)
Infection in blood stream	Sometimes (5–29%)
Inflammation of fat tissue	Sometimes (5–29%)
Recurrent chest infections	Sometimes (5–29%)
Recurrent bacterial infections	Not recorded
Recurrent respiratory infections	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Frequent urinary tract infections	Often (30–79%)
Undescended testes	Often (30–79%)
Hydronephrosis	Sometimes (5–29%)
Urachus fistula	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Broad thumb	Not recorded
Curvature of digit	Not recorded
Single transverse palmar crease	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Sometimes (5–29%)
Perianal abscess	Sometimes (5–29%)
Enlarged liver	Not recorded

Abnormality of the ear

Trait	How often it is seen
Middle ear infection	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)
Hearing impairment	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle tissue disease	Sometimes (5–29%)
Pigeon chest	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Not recorded
Growth delay	Not recorded

Abnormality of prenatal development or birth

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

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Not recorded

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 G6PC3 and how often each is seen. Find out more at hpo.jax.org.

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