Traits

Traits linked to PFKM

phosphofructokinase, muscle

The Human Phenotype Ontology links 27 traits to PFKM, 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
Exercise-induced muscle fatigue	Always
Exercise-induced muscle stiffness	Always
Tired easily	Always
Myotonia	Very often (80–99%)
Exercise-induced muscle cramps	Often (30–79%)
Increased variability in muscle fiber diameter	Often (30–79%)
Muscle degeneration	Often (30–79%)
Muscle weakness	Often (30–79%)
Gout	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always
Exercise-induced myoglobinuria	Always
High bili total	Always
Increased muscle glycogen content	Always
Reduced muscle 6-phosphofructokinase activity	Always
Blood in urine	Often (30–79%)
Elevated circulating aldolase concentration	Often (30–79%)
High blood uric acid level	Often (30–79%)
Increased circulating lactate dehydrogenase concentration	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Very often (80–99%)
Increased immature red blood cells	Often (30–79%)
Hemolytic anemia	Not recorded
Reduced erythrocyte 2,3-diphosphoglycerate concentration	Not recorded

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Often (30–79%)
Exercise-induced muscle pain	Often (30–79%)
Muscle ache	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Jaundice	Often (30–79%)
Gallstones	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 PFKM and how often each is seen. Find out more at hpo.jax.org.

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