Trăsături

Trăsături asociate cu ABCC6

ATP binding cassette subfamily C member 6

Human Phenotype Ontology asociază 130 trăsături cu ABCC6, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the cardiovascular system

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

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Periarticular calcification	Întotdeauna
Ectopic calcification	Des (30–79%)
Hypophosphatemic rickets	Des (30–79%)
Softening of the bones	Des (30–79%)
Abnormal deposits of calcium in the brain	Uneori (5–29%)
Abnormality of the chest	Uneori (5–29%)
Double-Jointed	Uneori (5–29%)
Fused neck	Uneori (5–29%)
Multiple fatty lumps	Uneori (5–29%)
Stippled calcification of the shoulder	Uneori (5–29%)
Abnormality of the sternum	Neînregistrat
Ankylosis	Neînregistrat
Calcification of falx cerebri	Neînregistrat
Hunched back	Neînregistrat
Scoliosis	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormality of the skin	Foarte des (80–99%)
Excessive wrinkled skin	Foarte des (80–99%)
Tight skin	Foarte des (80–99%)
Blue discoloration of the skin	Des (30–79%)
Hanging skin	Des (30–79%)
Hyperpigmented papule	Des (30–79%)
Loose redundant skin	Des (30–79%)
Stretch marks	Des (30–79%)
Yellow papule	Des (30–79%)
Firm lump under the skin	Uneori (5–29%)
Hyperelastic skin	Uneori (5–29%)
Civatte bodies	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Retinal peau d'orange	Întotdeauna
Angioid streaks	Foarte des (80–99%)
Noninflammatory retina disease	Foarte des (80–99%)
Choroidal neovascularization	Des (30–79%)
Visual impairment	Des (30–79%)
Blue outer white part of eyeball	Uneori (5–29%)
Decreased clarity of vision	Uneori (5–29%)
Macular degeneration	Uneori (5–29%)
Metamorphopsia	Uneori (5–29%)
Close sighted	Neînregistrat
Optic disc drusen	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	Des (30–79%)
Conductive deafness	Uneori (5–29%)
Mixed hearing impairment	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)
Stapes ankylosis	Uneori (5–29%)
Calcification of the auricular cartilage	Rar (1–4%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated alkaline phosphatase of bone origin	Uneori (5–29%)
Fever	Uneori (5–29%)
Fluid retention	Uneori (5–29%)
Hydrops fetalis	Uneori (5–29%)
High urine phosphate levels	Rar (1–4%)
Peau d'orange	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Retinal bleeding	Foarte des (80–99%)
Bruising susceptibility	Des (30–79%)
Gastrointestinal bleeding	Des (30–79%)
Platelet abnormalities	Uneori (5–29%)
Bleeding in brain	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Thickened skin folds of neck	Foarte des (80–99%)
Abnormality of retinal arteries	Uneori (5–29%)
High palate	Neînregistrat
High, narrow palate	Neînregistrat
White oral mucosal macule	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Balance impairment	Uneori (5–29%)
Irritability	Uneori (5–29%)
Encephalomalacia	Rar (1–4%)
Epilepsy	Rar (1–4%)
Severe global developmental delay	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Hepatic calcification	Foarte des (80–99%)
Feeding difficulties	Des (30–79%)
Accumulation of fluid in the abdomen	Uneori (5–29%)
Vomiting	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Increased calcium level in kidney	Des (30–79%)
Medullary nephrocalcinosis	Des (30–79%)
Cortical nephrocalcinosis	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulties	Des (30–79%)
Decreased DLCO	Des (30–79%)
Neonatal respiratory distress	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight in infancy	Uneori (5–29%)
Short stature	Uneori (5–29%)
Growth abnormality	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormal calcification of the wrist bones	Uneori (5–29%)
Stippled calcification of the elbow	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Fetal distress	Întotdeauna
High levels of amniotic fluid	Des (30–79%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Joint pain	Uneori (5–29%)
Death of body tissue due to lack of blood flow or infection	Rar (1–4%)

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 ABCC6 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu