Traits

Traits linked to G6PC1

glucose-6-phosphatase catalytic subunit 1

The Human Phenotype Ontology links 28 traits to G6PC1, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Elevated lipids in blood	Always
Increased lactate in body	Always
Low blood sugar when fasting	Always
High blood uric acid level	Sometimes (5–29%)
High liver enzymes	Not recorded
High urine protein levels	Not recorded
Low blood sugar	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Belly sticks out	Not recorded
Hepatocellular carcinoma	Not recorded
Intermittent diarrhea	Not recorded
Pancreatic inflammation	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Decreased glomerular filtration rate	Not recorded
Enlarged kidney	Not recorded
Focal segmental glomerulosclerosis	Not recorded
Kidney stone	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Decreased muscle mass	Not recorded
Gout	Not recorded
Osteoporosis	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Doll-like facial appearance	Not recorded
Fatty deposits in skin around the eyes	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Not recorded
Lipemia retinalis	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay	Sometimes (5–29%)
Short stature	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding tendency	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Delayed puberty	Not recorded

Abnormality of the integument

Trait	How often it is seen
Yellow bumps of fatty deposits on skin	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 G6PC1 and how often each is seen. Find out more at hpo.jax.org.

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