Trăsături

Trăsături asociate cu ATP7A

ATPase copper transporting alpha

Human Phenotype Ontology asociază 173 trăsături cu ATP7A, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

ATP7A

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Întotdeauna
Poor head control	Întotdeauna
Abnormal deposits of calcium in the brain	Foarte des (80–99%)
Double-Jointed	Foarte des (80–99%)
Formation of new noncancerous bone on top of existing bone	Foarte des (80–99%)
Funnel chest	Foarte des (80–99%)
Hernia	Foarte des (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Foarte des (80–99%)
Spasticity and rigidity of muscles	Foarte des (80–99%)
Flattened vertebrae	Des (30–79%)
Fusion of joints	Des (30–79%)
Muscle weakness	Des (30–79%)
Narrow chest	Des (30–79%)
Osteopenia	Des (30–79%)
Osteoporosis	Des (30–79%)
Pigeon chest	Des (30–79%)
Scarring	Des (30–79%)
Softening of the bones	Des (30–79%)
Weak and soft bones	Des (30–79%)
Abnormal formation of the hip	Uneori (5–29%)
Abnormality of the pubic bone	Uneori (5–29%)
Absent collarbone	Uneori (5–29%)
Breakdown of bone	Uneori (5–29%)
Calcium deposits in joints	Uneori (5–29%)
Hunched back	Uneori (5–29%)
Large iliac wing	Uneori (5–29%)
Recurrent fractures	Uneori (5–29%)
Rounded shoulders	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Broad collarbone	Neînregistrat
Broad ribs	Neînregistrat
Distal muscle wasting	Neînregistrat
EMG: neuropathic changes	Neînregistrat
Pelvic bone exostoses	Neînregistrat
Short collarbone	Neînregistrat
Spinal muscle degeneration	Neînregistrat
Weakness of outermost muscles	Neînregistrat

Abnormality of the digestive system

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

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormality of the face	Foarte des (80–99%)
Abnormality of the palate	Foarte des (80–99%)
Abnormality of the skull	Foarte des (80–99%)
Abnormally small head	Foarte des (80–99%)
Delayed cranial suture closure	Foarte des (80–99%)
Wide fontanelles	Foarte des (80–99%)
Abnormality of the sense of smell	Des (30–79%)
Expressionless face	Des (30–79%)
Extra bones within cranial sutures	Des (30–79%)
Full cheeks	Des (30–79%)
High, narrow palate	Des (30–79%)
Little lower jaw	Des (30–79%)
Long philtrum	Des (30–79%)
Prominent back of the head	Des (30–79%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
High forehead	Uneori (5–29%)
Beaked nose	Neînregistrat
Broad head shape	Neînregistrat
High palate	Neînregistrat
Long face	Neînregistrat
Long neck	Neînregistrat
Narrow face	Neînregistrat
Persistent open anterior fontanelle	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormality of the wide portion of a long bone	Des (30–79%)
Abnormality of the wrist	Des (30–79%)
Short fingers or toes	Des (30–79%)
Short palm	Des (30–79%)
Abnormality of the calf bone	Uneori (5–29%)
Absent shankbone	Uneori (5–29%)
Absent/small long bone in upper arm	Uneori (5–29%)
Avascular necrosis of the capital femoral epiphysis	Uneori (5–29%)
Bowing of the long bones	Uneori (5–29%)
Coxa valga	Uneori (5–29%)
Coxa vara	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
Fused ankle bones	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Humerus varus	Uneori (5–29%)
Knock knees	Uneori (5–29%)
Broad wide portion of long bone	Neînregistrat
Capitate-hamate fusion	Neînregistrat
High-arched foot	Neînregistrat
Limited elbow extension	Neînregistrat
Limited knee straightening	Neînregistrat
Metaphyseal spurs	Neînregistrat
Short humerus	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Brittle hair	Întotdeauna
Flattened and twisted hair	Întotdeauna
Hair loss	Întotdeauna
Hyperelastic skin	Întotdeauna
Patchy lightened skin	Întotdeauna
Afro-textured hair	Foarte des (80–99%)
Dry skin	Foarte des (80–99%)
Loss of hair color	Foarte des (80–99%)
Sparse hair	Foarte des (80–99%)
Atypical scarring of skin	Des (30–79%)
Keloids	Des (30–79%)
Thickened skin	Des (30–79%)
Coarse hair	Uneori (5–29%)
Thick hair	Uneori (5–29%)
Hanging skin	Neînregistrat
Loose redundant skin	Neînregistrat
Soft skin	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Babinski sign	Întotdeauna
Epilepsy	Întotdeauna
Epileptic spasm	Întotdeauna
Global developmental delay	Întotdeauna
Hypsarrhythmia	Întotdeauna
Loss of developmental milestones	Întotdeauna
Intellectual disability	Foarte des (80–99%)
Specific learning disability	Foarte des (80–99%)
Behavioral abnormality	Des (30–79%)
Chorea	Uneori (5–29%)
Decreased sensation in extremities	Uneori (5–29%)
Abnormal peripheral nervous system structure	Neînregistrat
Decreased reflex response	Neînregistrat
Unsteady walk	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Aneurysm	Foarte des (80–99%)
Abnormal carotid artery morphology	Des (30–79%)
Narrowing of an artery	Des (30–79%)
Poorly functioning veins	Des (30–79%)
Carotid artery tortuosity	Neînregistrat
Decrease in blood pressure upon standing up	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Bladder diverticulum	Întotdeauna
Frequent urinary tract infections	Uneori (5–29%)
Bladder carcinoma	Neînregistrat
Hydronephrosis	Neînregistrat
Ureteral obstruction	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay	Întotdeauna
Weight loss	Des (30–79%)
Faltering weight in infancy	Uneori (5–29%)
Prenatal growth deficiency	Uneori (5–29%)
Short stature	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bleeding within the skull	Foarte des (80–99%)
Bruising susceptibility	Des (30–79%)
Gastrointestinal bleeding	Uneori (5–29%)
Spontaneous hematomas	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Copper deficiency	Întotdeauna
Decreased serum ceruloplasmin	Întotdeauna
Hypothermia	Des (30–79%)
Low blood sugar	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Delayed passage of meconium	Des (30–79%)
High levels of amniotic fluid	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Bone infection	Uneori (5–29%)
Infection in blood stream	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Foarte des (80–99%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu ATP7A și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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