Traits

Traits linked to ATP7B

ATPase copper transporting beta

The Human Phenotype Ontology links 100 traits to ATP7B, by body system: features seen in people with one of the gene's rare conditions.

ATP7B

Abnormality of the nervous system

Trait	How often it is seen
Abnormality of extrapyramidal motor function	Always
Decreased muscle movement	Always
Decreased nerve conduction velocity	Always
Face of the giant panda sign	Always
Hand tremor	Always
Limb dystonia	Always
Parkinsonism with favorable response to dopaminergic medication	Always
Tremor	Always
Aggressive behavior	Very often (80–99%)
Amplification of sexual behavior	Very often (80–99%)
Clumsiness	Very often (80–99%)
Depression	Very often (80–99%)
Difficulty articulating speech	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Abnormal gait	Often (30–79%)
Chorea	Often (30–79%)
Difficulty staying or falling asleep	Often (30–79%)
Dystonia	Often (30–79%)
Numbness	Often (30–79%)
Personality changes	Often (30–79%)
Anxiety	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Focal T2 hyperintense brainstem lesion	Sometimes (5–29%)
Hallucinations	Sometimes (5–29%)
Peripheral nerve disease	Sometimes (5–29%)
Psychosis	Sometimes (5–29%)
Coma	Not recorded
Dementia	Not recorded
Incoordination	Not recorded
Mixed demyelinating and axonal polyneuropathy	Not recorded

Laboratory abnormality

Trait	How often it is seen
Decreased serum ceruloplasmin	Always
Elevated circulating copper concentration	Always
Fatty infiltration of liver	Always
Fluid retention	Always
High blood bilirubin levels	Always
High nonceruloplasmin-bound serum copper	Always
Increased urinary copper concentration	Always
Low albumin	Always
Low blood uric acid levels	Always
Elevated circulating alanine aminotransferase concentration	Very often (80–99%)
Elevated circulating aspartate aminotransferase concentration	Very often (80–99%)
High liver enzymes	Very often (80–99%)
Joint swelling	Very often (80–99%)
Abnormal urinary amino-acid findings	Sometimes (5–29%)
Elevated urine calcium levels	Not recorded
Glucose in urine	Not recorded
High urine phosphate levels	Not recorded
High urine protein levels	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal bloating	Always
Accumulation of fluid in the abdomen	Always
Enlarged liver	Always
Liver failure	Always
Portal fibrosis	Always
Scar tissue replaces healthy tissue in the liver	Always
Acute liver failure	Very often (80–99%)
Acute liver inflammation	Very often (80–99%)
Jaundice	Very often (80–99%)
Liver inflammation	Very often (80–99%)
Vomiting	Often (30–79%)
Abdominal pain	Sometimes (5–29%)
Hepatocellular carcinoma	Sometimes (5–29%)
Pancreatic inflammation	Sometimes (5–29%)
Atypical or prolonged liver inflammation	Not recorded
Enlarged vein in esophagus	Not recorded
Poor swallowing	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Rigidity	Always
Arthritis	Very often (80–99%)
Back pain	Very often (80–99%)
Bone pain	Very often (80–99%)
Spontaneous fracture	Very often (80–99%)
Osteoporosis	Often (30–79%)
Calcium deposits in joints	Not recorded
Degenerative joint disease	Not recorded
Double-Jointed	Not recorded
Softening of the bones	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Always
Bruising susceptibility	Very often (80–99%)
Low platelet count	Very often (80–99%)
Hemolytic anemia	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Fluid accumulation in lower limbs	Always
Limb muscle weakness	Always
Abnormality of the hand	Very often (80–99%)
Proximal lower limb muscle weakness	Very often (80–99%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the menstrual cycle	Very often (80–99%)
Infertility	Sometimes (5–29%)
Kidney stone	Sometimes (5–29%)
Abnormal function of filtrating structures in kidney	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Hyposmia	Always
Drooling	Sometimes (5–29%)
Excessive salivation	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Increased body weight	Very often (80–99%)
Weight loss	Very often (80–99%)

Abnormality of the eye

Trait	How often it is seen
Kayser-Fleischer ring	Very often (80–99%)
Sunflower cataract	Rarely (1–4%)

Constitutional symptom

Trait	How often it is seen
Malaise	Always
Joint pain	Very often (80–99%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Always

Abnormality of the endocrine system

Trait	How often it is seen
Decreased parathyroid hormone secretion	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Itching	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 ATP7B and how often each is seen. Find out more at hpo.jax.org.

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