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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.

Laboratory abnormality

TraitCât de frecvent apare
Low blood sugarÎntotdeauna
Metabolic acidosisÎntotdeauna
Reduced tissue fructose-1,6-bisphosphatase activityÎntotdeauna
Abnormal circulating enzyme concentration or activityFoarte des (80–99%)
Increased lactate in bodyFoarte des (80–99%)
High blood uric acid levelDes (30–79%)
Intermittent lactic acidemiaDes (30–79%)
Low blood sugar when fastingDes (30–79%)
Fatty infiltration of liverUneori (5–29%)
High levels of ketone bodiesUneori (5–29%)
High liver enzymesUneori (5–29%)
Increased urinary glycerolUneori (5–29%)
Low blood sugar in newbornUneori (5–29%)
Neonatal hyperbilirubinemiaUneori (5–29%)
Increased blood alanineRar (1–4%)
FeverNeînregistrat

Abnormality of the nervous system

TraitCât de frecvent apare
ComaUneori (5–29%)
Disturbances of consciousnessUneori (5–29%)
DrowsinessUneori (5–29%)
EpilepsyUneori (5–29%)
Excessive daytime sleepinessUneori (5–29%)
Intellectual disabilityUneori (5–29%)
IrritabilityUneori (5–29%)
VentriculomegalyUneori (5–29%)
LethargyNeînregistrat

Abnormality of the respiratory system

TraitCât de frecvent apare
Apneic episodes in infancyUneori (5–29%)
Breathing difficultiesUneori (5–29%)
Breathing difficultyUneori (5–29%)
Episodic tachypneaUneori (5–29%)
Intermittent overbreathingUneori (5–29%)
ApneaNeînregistrat
Rapid breathingNeînregistrat

Abnormality of the digestive system

TraitCât de frecvent apare
DiarrheaDes (30–79%)
VomitingDes (30–79%)
Enlarged liverUneori (5–29%)
Reye syndrome-like episodesUneori (5–29%)

Abnormality of the cardiovascular system

TraitCât de frecvent apare
Elevated heart rateUneori (5–29%)

Abnormality of the integument

TraitCât de frecvent apare
PalenessUneori (5–29%)

Abnormality of the musculoskeletal system

TraitCât de frecvent apare
Low muscle toneUneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

  • 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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