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Traits
Traits linked to FBP1
fructose-bisphosphatase 1
The Human Phenotype Ontology links 39 traits to FBP1, by body system: features seen in people with one of the gene's rare conditions.
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Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Low blood sugar | Always |
| Metabolic acidosis | Always |
| Reduced tissue fructose-1,6-bisphosphatase activity | Always |
| Abnormal circulating enzyme concentration or activity | Very often (80–99%) |
| Increased lactate in body | Very often (80–99%) |
| High blood uric acid level | Often (30–79%) |
| Intermittent lactic acidemia | Often (30–79%) |
| Low blood sugar when fasting | Often (30–79%) |
| Fatty infiltration of liver | Sometimes (5–29%) |
| High levels of ketone bodies | Sometimes (5–29%) |
| High liver enzymes | Sometimes (5–29%) |
| Increased urinary glycerol | Sometimes (5–29%) |
| Low blood sugar in newborn | Sometimes (5–29%) |
| Neonatal hyperbilirubinemia | Sometimes (5–29%) |
| Increased blood alanine | Rarely (1–4%) |
| Fever | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Coma | Sometimes (5–29%) |
| Disturbances of consciousness | Sometimes (5–29%) |
| Drowsiness | Sometimes (5–29%) |
| Epilepsy | Sometimes (5–29%) |
| Excessive daytime sleepiness | Sometimes (5–29%) |
| Intellectual disability | Sometimes (5–29%) |
| Irritability | Sometimes (5–29%) |
| Ventriculomegaly | Sometimes (5–29%) |
| Lethargy | Not recorded |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Apneic episodes in infancy | Sometimes (5–29%) |
| Breathing difficulties | Sometimes (5–29%) |
| Breathing difficulty | Sometimes (5–29%) |
| Episodic tachypnea | Sometimes (5–29%) |
| Intermittent overbreathing | Sometimes (5–29%) |
| Apnea | Not recorded |
| Rapid breathing | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Diarrhea | Often (30–79%) |
| Vomiting | Often (30–79%) |
| Enlarged liver | Sometimes (5–29%) |
| Reye syndrome-like episodes | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Elevated heart rate | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Paleness | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Low muscle tone | 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 FBP1 and how often each is seen. Find out more at hpo.jax.org.
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