Traits

Traits linked to ATP2A2

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

The Human Phenotype Ontology links 56 traits to ATP2A2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the integument

Trait	How often it is seen
Hyperkeratosis	Always
Thickening of upper layer of skin	Always
Abnormality of the nail	Very often (80–99%)
Acrokeratosis	Very often (80–99%)
Hypergranulosis	Very often (80–99%)
Hyperkeratotic papule	Very often (80–99%)
Hyperpigmented skin patches	Very often (80–99%)
Itching	Very often (80–99%)
Poor nail formation	Very often (80–99%)
Skin-colored papule	Very often (80–99%)
Subungual hyperkeratotic fragments	Very often (80–99%)
Abnormal skin pigmentation	Often (30–79%)
Abnormality of the hair	Often (30–79%)
Brittle nails	Often (30–79%)
Cobblestone-like hyperkeratosis	Often (30–79%)
Longitudinal erythronychia	Often (30–79%)
Skin plaque	Often (30–79%)
Thickened skin	Often (30–79%)
Warts	Often (30–79%)
White discoloration of nails	Often (30–79%)
Absent nails	Sometimes (5–29%)
Flat, discolored area of skin	Sometimes (5–29%)
Skin vesicle	Sometimes (5–29%)
Acantholysis	Not recorded
Grooved nails	Not recorded
Parakeratosis	Not recorded
Verrucous papule	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Acute rhabdomyolysis	Always
Centrally nucleated skeletal muscle fibers	Always
Exercise-induced rhabdomyolysis	Always
Proximal neurogenic muscle weakness	Always
Viral infection-induced rhabdomyolysis	Always
Fatty replacement of skeletal muscle	Often (30–79%)
Weakness of outermost muscles	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Bipolar disorder	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Intellectual disability, mild	Not recorded
Schizophrenia	Not recorded

Abnormality of limbs

Trait	How often it is seen
Palmar pits	Often (30–79%)
Plantar pits	Often (30–79%)
Punctate palmoplantar hyperkeratosis	Often (30–79%)
Thickening of palms and soles	Often (30–79%)
Muscle hypertrophy of the lower extremities	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Dry eye syndrome	Often (30–79%)
Inflammation of eyelids	Often (30–79%)
Enlargement of parotid gland	Not recorded

Laboratory abnormality

Trait	How often it is seen
Increased muscle glycogen content	Always
Myoglobinuria	Always
Elevated blood creatine phosphokinase	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Acute kidney injury	Always
Renal failure	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Anal mucosal leukoplakia	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Punctate keratitis	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Muscle ache	Always

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 ATP2A2 and how often each is seen. Find out more at hpo.jax.org.

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