Traits

Traits linked to PHKG1

phosphorylase kinase catalytic subunit gamma 1

The Human Phenotype Ontology links 16 traits to PHKG1, 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
Progressive muscle weakness	Very often (80–99%)
EMG: myopathic abnormalities	Often (30–79%)
Camptocormia	Sometimes (5–29%)
Difficulty walking up stairs	Sometimes (5–29%)
Gowers sign	Sometimes (5–29%)
Muscle degeneration	Sometimes (5–29%)
Muscle spasm	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Often (30–79%)
Increased muscle glycogen content	Often (30–79%)
Reduced muscle phosphorylase kinase activity	Often (30–79%)
Myoglobinuria	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Often (30–79%)
Fatigue	Often (30–79%)
Muscle ache	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Sometimes (5–29%)
Decreased reflex response	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 PHKG1 and how often each is seen. Find out more at hpo.jax.org.

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