Požymiai

Su ABCC6 susiję požymiai

ATP binding cassette subfamily C member 6

Žmogaus fenotipo ontologija sieja 130 požymių su ABCC6, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abdominal aortic calcification	Visada
Arterial calcification	Visada
Cardiac failure	Visada
Cardiogenic shock	Visada
Carotid artery calcification	Visada
Coronary artery calcification	Visada
Enlarged heart	Visada
Generalized arterial calcification	Visada
Heart attack	Visada
Narrowing of kidney artery	Visada
Reduced left ventricular ejection fraction	Visada
Stretched and thinned heart muscle	Visada
Abnormal cardiovascular system morphology	Labai dažnai (80–99%)
Abnormality of the cerebral blood vessels	Labai dažnai (80–99%)
Calcification of the aorta	Labai dažnai (80–99%)
Narrowing of an artery	Labai dažnai (80–99%)
High blood pressure	Dažnai (30–79%)
Intermittent claudication	Dažnai (30–79%)
Left ventricular systolic dysfunction	Dažnai (30–79%)
Medial calcification of large arteries	Dažnai (30–79%)
Medial calcification of medium-sized arteries	Dažnai (30–79%)
Mitral regurgitation	Dažnai (30–79%)
Right atrial enlargement	Dažnai (30–79%)
Sinus tachycardia	Dažnai (30–79%)
Tricuspid regurgitation	Dažnai (30–79%)
Abnormal endocardium morphology	Kartais (5–29%)
Angina pectoris	Kartais (5–29%)
Fluid around heart	Kartais (5–29%)
Mini stroke	Kartais (5–29%)
Mitral valve prolapse	Kartais (5–29%)
Narrowing of aortic valve	Kartais (5–29%)
Renovascular hypertension	Kartais (5–29%)
Restrictive cardiomyopathy	Kartais (5–29%)
Stroke	Kartais (5–29%)
Sudden cardiac death	Kartais (5–29%)
Telangiectasia of the skin	Kartais (5–29%)
Ventricular hypertrophy	Kartais (5–29%)
Weak pulse	Kartais (5–29%)
Increased blood pressure in blood vessels of lungs	Retai (1–4 %)
Mitral stenosis	Retai (1–4 %)
Myocardial calcification	Retai (1–4 %)
Plaque build-up in arteries supplying blood to heart	Retai (1–4 %)
Tear in inner wall of large artery that carries blood away from heart	Retai (1–4 %)
Accelerated plaque build-up in arteries	Neužfiksuota
Hardened artery wall	Neužfiksuota
Premature occlusive vascular stenosis	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Periarticular calcification	Visada
Ectopic calcification	Dažnai (30–79%)
Hypophosphatemic rickets	Dažnai (30–79%)
Softening of the bones	Dažnai (30–79%)
Abnormal deposits of calcium in the brain	Kartais (5–29%)
Abnormality of the chest	Kartais (5–29%)
Double-Jointed	Kartais (5–29%)
Fused neck	Kartais (5–29%)
Multiple fatty lumps	Kartais (5–29%)
Stippled calcification of the shoulder	Kartais (5–29%)
Abnormality of the sternum	Neužfiksuota
Ankylosis	Neužfiksuota
Calcification of falx cerebri	Neužfiksuota
Hunched back	Neužfiksuota
Scoliosis	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Abnormality of the skin	Labai dažnai (80–99%)
Excessive wrinkled skin	Labai dažnai (80–99%)
Tight skin	Labai dažnai (80–99%)
Blue discoloration of the skin	Dažnai (30–79%)
Hanging skin	Dažnai (30–79%)
Hyperpigmented papule	Dažnai (30–79%)
Loose redundant skin	Dažnai (30–79%)
Stretch marks	Dažnai (30–79%)
Yellow papule	Dažnai (30–79%)
Firm lump under the skin	Kartais (5–29%)
Hyperelastic skin	Kartais (5–29%)
Civatte bodies	Retai (1–4 %)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Retinal peau d'orange	Visada
Angioid streaks	Labai dažnai (80–99%)
Noninflammatory retina disease	Labai dažnai (80–99%)
Choroidal neovascularization	Dažnai (30–79%)
Visual impairment	Dažnai (30–79%)
Blue outer white part of eyeball	Kartais (5–29%)
Decreased clarity of vision	Kartais (5–29%)
Macular degeneration	Kartais (5–29%)
Metamorphopsia	Kartais (5–29%)
Close sighted	Neužfiksuota
Optic disc drusen	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Hearing impairment	Dažnai (30–79%)
Conductive deafness	Kartais (5–29%)
Mixed hearing impairment	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)
Stapes ankylosis	Kartais (5–29%)
Calcification of the auricular cartilage	Retai (1–4 %)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Elevated alkaline phosphatase of bone origin	Kartais (5–29%)
Fever	Kartais (5–29%)
Fluid retention	Kartais (5–29%)
Hydrops fetalis	Kartais (5–29%)
High urine phosphate levels	Retai (1–4 %)
Peau d'orange	Neužfiksuota

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Retinal bleeding	Labai dažnai (80–99%)
Bruising susceptibility	Dažnai (30–79%)
Gastrointestinal bleeding	Dažnai (30–79%)
Platelet abnormalities	Kartais (5–29%)
Bleeding in brain	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Thickened skin folds of neck	Labai dažnai (80–99%)
Abnormality of retinal arteries	Kartais (5–29%)
High palate	Neužfiksuota
High, narrow palate	Neužfiksuota
White oral mucosal macule	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Balance impairment	Kartais (5–29%)
Irritability	Kartais (5–29%)
Encephalomalacia	Retai (1–4 %)
Epilepsy	Retai (1–4 %)
Severe global developmental delay	Retai (1–4 %)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Hepatic calcification	Labai dažnai (80–99%)
Feeding difficulties	Dažnai (30–79%)
Accumulation of fluid in the abdomen	Kartais (5–29%)
Vomiting	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Increased calcium level in kidney	Dažnai (30–79%)
Medullary nephrocalcinosis	Dažnai (30–79%)
Cortical nephrocalcinosis	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Breathing difficulties	Dažnai (30–79%)
Decreased DLCO	Dažnai (30–79%)
Neonatal respiratory distress	Dažnai (30–79%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight in infancy	Kartais (5–29%)
Short stature	Kartais (5–29%)
Growth abnormality	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Abnormal calcification of the wrist bones	Kartais (5–29%)
Stippled calcification of the elbow	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Fetal distress	Visada
High levels of amniotic fluid	Dažnai (30–79%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Joint pain	Kartais (5–29%)
Death of body tissue due to lack of blood flow or infection	Retai (1–4 %)

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.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su ABCC6 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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