Traits

Traits linked to ANO5

anoctamin 5

The Human Phenotype Ontology links 65 traits to ANO5, 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%)
Proximal neurogenic muscle weakness	Very often (80–99%)
Thickened cortex of long bones	Very often (80–99%)
Abnormal muscle fiber morphology	Often (30–79%)
Difficulty running	Often (30–79%)
EMG: axonal abnormality	Often (30–79%)
EMG: myopathic abnormalities	Often (30–79%)
EMG: myotonic runs	Often (30–79%)
EMG: neuropathic changes	Often (30–79%)
Fatty replacement of skeletal muscle	Often (30–79%)
Increased endomysial connective tissue	Often (30–79%)
Increased variability in muscle fiber diameter	Often (30–79%)
Internally nucleated skeletal muscle fibers	Often (30–79%)
Lower limb amyotrophy	Often (30–79%)
Muscle fiber degeneration	Often (30–79%)
Muscle fiber splitting	Often (30–79%)
Muscle stiffness	Often (30–79%)
Osteopenia	Often (30–79%)
Distal muscle wasting	Sometimes (5–29%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Hamstring contractures	Sometimes (5–29%)
Progressive proximal muscle weakness	Sometimes (5–29%)
Recurrent fractures	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Breakdown of skeletal muscle	Rarely (1–4%)
Difficulty walking up stairs	Not recorded
Increased connective tissue	Not recorded
Increased susceptibility to fractures	Not recorded
Muscle tissue disease	Not recorded
Muscular dystrophy	Not recorded

Abnormality of limbs

Trait	How often it is seen
Pelvic girdle muscle weakness	Always
Bowing of the long bones	Very often (80–99%)
Distal lower limb muscle weakness	Very often (80–99%)
Limb-girdle muscular dystrophy	Very often (80–99%)
Proximal lower limb muscle weakness	Very often (80–99%)
Wasting of quad muscles	Very often (80–99%)
Abnormal calf muscles	Often (30–79%)
Back knee	Often (30–79%)
Increased size of calf muscles	Often (30–79%)
Pelvic girdle muscle atrophy	Often (30–79%)
Proximal upper limb muscle weakness	Often (30–79%)
Quadriceps weakness	Often (30–79%)
Ankle flexion contracture	Sometimes (5–29%)
Calf muscle pseudohypertrophy	Sometimes (5–29%)
Elbow flexion contracture	Sometimes (5–29%)
Flexion contracture of finger	Sometimes (5–29%)
Upper limb amyotrophy	Sometimes (5–29%)
Winged shoulder blade	Sometimes (5–29%)
Wrist flexion contracture	Sometimes (5–29%)
Diaphyseal cortical sclerosis	Not recorded
Peroneal muscle atrophy	Not recorded
Weak shoulder muscles	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always
Highly elevated creatine kinase	Often (30–79%)
Myoglobinuria	Sometimes (5–29%)
Elevated creatine kinase after exercise	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Broad jaw	Very often (80–99%)
Lower jaw bone infection	Often (30–79%)
Bell's palsy	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Often (30–79%)
Waddling gait	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Muscle ache	Very often (80–99%)
Exercise-induced muscle pain	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Disease of the heart muscle	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Bone infection	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 ANO5 and how often each is seen. Find out more at hpo.jax.org.

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