Požymiai

Su ATP7A susiję požymiai

ATPase copper transporting alpha

Žmogaus fenotipo ontologija sieja 173 požymių su ATP7A, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

ATP7A

Abnormality of the musculoskeletal system

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

Abnormality of the digestive system

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

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormality of the face	Labai dažnai (80–99%)
Abnormality of the palate	Labai dažnai (80–99%)
Abnormality of the skull	Labai dažnai (80–99%)
Abnormally small head	Labai dažnai (80–99%)
Delayed cranial suture closure	Labai dažnai (80–99%)
Wide fontanelles	Labai dažnai (80–99%)
Abnormality of the sense of smell	Dažnai (30–79%)
Expressionless face	Dažnai (30–79%)
Extra bones within cranial sutures	Dažnai (30–79%)
Full cheeks	Dažnai (30–79%)
High, narrow palate	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Long philtrum	Dažnai (30–79%)
Prominent back of the head	Dažnai (30–79%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
High forehead	Kartais (5–29%)
Beaked nose	Neužfiksuota
Broad head shape	Neužfiksuota
High palate	Neužfiksuota
Long face	Neužfiksuota
Long neck	Neužfiksuota
Narrow face	Neužfiksuota
Persistent open anterior fontanelle	Neužfiksuota

Abnormality of limbs

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

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Brittle hair	Visada
Flattened and twisted hair	Visada
Hair loss	Visada
Hyperelastic skin	Visada
Patchy lightened skin	Visada
Afro-textured hair	Labai dažnai (80–99%)
Dry skin	Labai dažnai (80–99%)
Loss of hair color	Labai dažnai (80–99%)
Sparse hair	Labai dažnai (80–99%)
Atypical scarring of skin	Dažnai (30–79%)
Keloids	Dažnai (30–79%)
Thickened skin	Dažnai (30–79%)
Coarse hair	Kartais (5–29%)
Thick hair	Kartais (5–29%)
Hanging skin	Neužfiksuota
Loose redundant skin	Neužfiksuota
Soft skin	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Babinski sign	Visada
Epilepsy	Visada
Epileptic spasm	Visada
Global developmental delay	Visada
Hypsarrhythmia	Visada
Loss of developmental milestones	Visada
Intellectual disability	Labai dažnai (80–99%)
Specific learning disability	Labai dažnai (80–99%)
Behavioral abnormality	Dažnai (30–79%)
Chorea	Kartais (5–29%)
Decreased sensation in extremities	Kartais (5–29%)
Abnormal peripheral nervous system structure	Neužfiksuota
Decreased reflex response	Neužfiksuota
Unsteady walk	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Aneurysm	Labai dažnai (80–99%)
Abnormal carotid artery morphology	Dažnai (30–79%)
Narrowing of an artery	Dažnai (30–79%)
Poorly functioning veins	Dažnai (30–79%)
Carotid artery tortuosity	Neužfiksuota
Decrease in blood pressure upon standing up	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Bladder diverticulum	Visada
Frequent urinary tract infections	Kartais (5–29%)
Bladder carcinoma	Neužfiksuota
Hydronephrosis	Neužfiksuota
Ureteral obstruction	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Growth delay	Visada
Weight loss	Dažnai (30–79%)
Faltering weight in infancy	Kartais (5–29%)
Prenatal growth deficiency	Kartais (5–29%)
Short stature	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Bleeding within the skull	Labai dažnai (80–99%)
Bruising susceptibility	Dažnai (30–79%)
Gastrointestinal bleeding	Kartais (5–29%)
Spontaneous hematomas	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Copper deficiency	Visada
Decreased serum ceruloplasmin	Visada
Hypothermia	Dažnai (30–79%)
Low blood sugar	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Delayed passage of meconium	Dažnai (30–79%)
High levels of amniotic fluid	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Bone infection	Kartais (5–29%)
Infection in blood stream	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Fatigue	Labai dažnai (80–99%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

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Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su ATP7A susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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