Traits

Traits linked to GFPT1

glutamine--fructose-6-phosphate transaminase 1

The Human Phenotype Ontology links 57 traits to GFPT1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	Always
Fatigable weakness	Always
Proximal neurogenic muscle weakness	Always
Ragged-red muscle fibers	Always
Generalized decreased muscle tone	Often (30–79%)
Increased jitter at single fiber EMG	Often (30–79%)
Muscle tissue disease	Often (30–79%)
Difficulty running	Sometimes (5–29%)
Difficulty walking up stairs	Sometimes (5–29%)
Double-Jointed	Sometimes (5–29%)
Excessive inward curvature of lower spine	Sometimes (5–29%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Frequent falls	Sometimes (5–29%)
Gowers sign	Sometimes (5–29%)
Muscle spasm	Sometimes (5–29%)
Poor head control	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Tired easily	Sometimes (5–29%)
Type 1 muscle fiber predominance	Sometimes (5–29%)
Weakness of outermost muscles	Rarely (1–4%)
Arthrogryposis multiplex congenita	Not recorded
Decreased lung function due to weak breathing muscles	Not recorded
Decreased muscle mass	Not recorded
Low muscle tone	Not recorded
Muscle degeneration	Not recorded
Neck muscle weakness	Not recorded
Type 2 muscle fiber atrophy	Not recorded
Wasting of muscles near the body	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Motor delay	Always
Abnormal peripheral nervous system synaptic transmission	Often (30–79%)
Absent reflexes	Often (30–79%)
Favorable response of weakness to acetylcholine esterase inhibitors	Often (30–79%)
Waddling gait	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Decreased size of nerve terminals	Not recorded
Difficulty articulating speech	Not recorded

Abnormality of head or neck

Trait	How often it is seen
High palate	Often (30–79%)
Bell's palsy	Sometimes (5–29%)
Bad bite	Not recorded
Big lower jaw	Not recorded
Long face	Not recorded

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Often (30–79%)
Limb-girdle muscle weakness	Often (30–79%)
Generalized weakness of limb muscles	Sometimes (5–29%)
Inability to straighten knee	Sometimes (5–29%)
Winged shoulder blade	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Always
Weakness of muscles controlling eye movement	Always
Retinoschisis	Often (30–79%)
Cross-eyed	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Not recorded
Poor swallowing	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Sometimes (5–29%)
Mildly elevated creatine kinase	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Muscle fiber tubular inclusions	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Not recorded

Abnormality of the voice

Trait	How often it is seen
Weak cry	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 GFPT1 and how often each is seen. Find out more at hpo.jax.org.

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