Traits

Traits linked to ATP7A

ATPase copper transporting alpha

The Human Phenotype Ontology links 173 traits to ATP7A, by body system: features seen in people with one of the gene's rare conditions.

ATP7A

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Poor head control	Always
Abnormal deposits of calcium in the brain	Very often (80–99%)
Double-Jointed	Very often (80–99%)
Formation of new noncancerous bone on top of existing bone	Very often (80–99%)
Funnel chest	Very often (80–99%)
Hernia	Very often (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Very often (80–99%)
Spasticity and rigidity of muscles	Very often (80–99%)
Flattened vertebrae	Often (30–79%)
Fusion of joints	Often (30–79%)
Muscle weakness	Often (30–79%)
Narrow chest	Often (30–79%)
Osteopenia	Often (30–79%)
Osteoporosis	Often (30–79%)
Pigeon chest	Often (30–79%)
Scarring	Often (30–79%)
Softening of the bones	Often (30–79%)
Weak and soft bones	Often (30–79%)
Abnormal formation of the hip	Sometimes (5–29%)
Abnormality of the pubic bone	Sometimes (5–29%)
Absent collarbone	Sometimes (5–29%)
Breakdown of bone	Sometimes (5–29%)
Calcium deposits in joints	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Large iliac wing	Sometimes (5–29%)
Recurrent fractures	Sometimes (5–29%)
Rounded shoulders	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Broad collarbone	Not recorded
Broad ribs	Not recorded
Distal muscle wasting	Not recorded
EMG: neuropathic changes	Not recorded
Pelvic bone exostoses	Not recorded
Short collarbone	Not recorded
Spinal muscle degeneration	Not recorded
Weakness of outermost muscles	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Very often (80–99%)
Absent/small abdominal wall muscles	Very often (80–99%)
Constipation	Very often (80–99%)
Enlarged colon lacking nerve cells	Very often (80–99%)
Feeding difficulties in infancy	Very often (80–99%)
Functional abnormality of the gastrointestinal tract	Very often (80–99%)
Inguinal hernia	Very often (80–99%)
Intestinal obstruction	Very often (80–99%)
Nausea and vomiting	Very often (80–99%)
Umbilical hernia	Very often (80–99%)
Abdominal bloating	Often (30–79%)
Abnormal esophagus physiology	Often (30–79%)
Acid reflux	Often (30–79%)
Bilious emesis	Often (30–79%)
Chronic diarrhea	Often (30–79%)
Delayed gastric emptying	Often (30–79%)
Feeding difficulties	Often (30–79%)
Inflammation of the esophagus	Often (30–79%)
Jaundice	Often (30–79%)
Liver inflammation	Often (30–79%)
Malabsorption	Often (30–79%)
Poor suck	Often (30–79%)
Poor swallowing	Often (30–79%)
Prolonged yellowing of skin in newborn	Often (30–79%)
Slowed or blocked flow of bile from liver	Often (30–79%)
Stomach hernia	Often (30–79%)
Colon perforation	Sometimes (5–29%)
Diarrhea	Sometimes (5–29%)
Enterocolitis	Sometimes (5–29%)
Femoral hernia	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the face	Very often (80–99%)
Abnormality of the palate	Very often (80–99%)
Abnormality of the skull	Very often (80–99%)
Abnormally small head	Very often (80–99%)
Delayed cranial suture closure	Very often (80–99%)
Wide fontanelles	Very often (80–99%)
Abnormality of the sense of smell	Often (30–79%)
Expressionless face	Often (30–79%)
Extra bones within cranial sutures	Often (30–79%)
Full cheeks	Often (30–79%)
High, narrow palate	Often (30–79%)
Little lower jaw	Often (30–79%)
Long philtrum	Often (30–79%)
Prominent back of the head	Often (30–79%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
Beaked nose	Not recorded
Broad head shape	Not recorded
High palate	Not recorded
Long face	Not recorded
Long neck	Not recorded
Narrow face	Not recorded
Persistent open anterior fontanelle	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormality of the wide portion of a long bone	Often (30–79%)
Abnormality of the wrist	Often (30–79%)
Short fingers or toes	Often (30–79%)
Short palm	Often (30–79%)
Abnormality of the calf bone	Sometimes (5–29%)
Absent shankbone	Sometimes (5–29%)
Absent/small long bone in upper arm	Sometimes (5–29%)
Avascular necrosis of the capital femoral epiphysis	Sometimes (5–29%)
Bowing of the long bones	Sometimes (5–29%)
Coxa valga	Sometimes (5–29%)
Coxa vara	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Fused ankle bones	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Humerus varus	Sometimes (5–29%)
Knock knees	Sometimes (5–29%)
Broad wide portion of long bone	Not recorded
Capitate-hamate fusion	Not recorded
High-arched foot	Not recorded
Limited elbow extension	Not recorded
Limited knee straightening	Not recorded
Metaphyseal spurs	Not recorded
Short humerus	Not recorded

Abnormality of the integument

Trait	How often it is seen
Brittle hair	Always
Flattened and twisted hair	Always
Hair loss	Always
Hyperelastic skin	Always
Patchy lightened skin	Always
Afro-textured hair	Very often (80–99%)
Dry skin	Very often (80–99%)
Loss of hair color	Very often (80–99%)
Sparse hair	Very often (80–99%)
Atypical scarring of skin	Often (30–79%)
Keloids	Often (30–79%)
Thickened skin	Often (30–79%)
Coarse hair	Sometimes (5–29%)
Thick hair	Sometimes (5–29%)
Hanging skin	Not recorded
Loose redundant skin	Not recorded
Soft skin	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Babinski sign	Always
Epilepsy	Always
Epileptic spasm	Always
Global developmental delay	Always
Hypsarrhythmia	Always
Loss of developmental milestones	Always
Intellectual disability	Very often (80–99%)
Specific learning disability	Very often (80–99%)
Behavioral abnormality	Often (30–79%)
Chorea	Sometimes (5–29%)
Decreased sensation in extremities	Sometimes (5–29%)
Abnormal peripheral nervous system structure	Not recorded
Decreased reflex response	Not recorded
Unsteady walk	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Aneurysm	Very often (80–99%)
Abnormal carotid artery morphology	Often (30–79%)
Narrowing of an artery	Often (30–79%)
Poorly functioning veins	Often (30–79%)
Carotid artery tortuosity	Not recorded
Decrease in blood pressure upon standing up	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Bladder diverticulum	Always
Frequent urinary tract infections	Sometimes (5–29%)
Bladder carcinoma	Not recorded
Hydronephrosis	Not recorded
Ureteral obstruction	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Weight loss	Often (30–79%)
Faltering weight in infancy	Sometimes (5–29%)
Prenatal growth deficiency	Sometimes (5–29%)
Short stature	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding within the skull	Very often (80–99%)
Bruising susceptibility	Often (30–79%)
Gastrointestinal bleeding	Sometimes (5–29%)
Spontaneous hematomas	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Copper deficiency	Always
Decreased serum ceruloplasmin	Always
Hypothermia	Often (30–79%)
Low blood sugar	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Delayed passage of meconium	Often (30–79%)
High levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Bone infection	Sometimes (5–29%)
Infection in blood stream	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Very often (80–99%)

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 ATP7A and how often each is seen. Find out more at hpo.jax.org.

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