Traits

Traits linked to POPDC1

popeye domain cAMP effector 1

The Human Phenotype Ontology links 17 traits to POPDC1, 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
Centrally nucleated skeletal muscle fibers	Always
Increased variability in muscle fiber diameter	Often (30–79%)
Muscle fiber necrosis	Often (30–79%)
Muscle degeneration	Not recorded
Muscular dystrophy	Not recorded
Proximal neurogenic muscle weakness	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Fainting spell	Always
Second degree atrioventricular block	Always
Sinus bradycardia	Often (30–79%)
Palpitations	Not recorded

Abnormality of limbs

Trait	How often it is seen
Limb muscle weakness	Often (30–79%)
Limb-girdle muscle weakness	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Rarely (1–4%)
Loss of ability to walk	Not recorded

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Not recorded
Muscle ache	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Often (30–79%)

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 POPDC1 and how often each is seen. Find out more at hpo.jax.org.

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