Tunnused

Geeniga ABCC6 seotud tunnused

ATP binding cassette subfamily C member 6

Inimese fenotüübi ontoloogia seostab geeniga ABCC6 130 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the cardiovascular system

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

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Periarticular calcification	Alati
Ectopic calcification	Sageli (30–79%)
Hypophosphatemic rickets	Sageli (30–79%)
Softening of the bones	Sageli (30–79%)
Abnormal deposits of calcium in the brain	Mõnikord (5–29%)
Abnormality of the chest	Mõnikord (5–29%)
Double-Jointed	Mõnikord (5–29%)
Fused neck	Mõnikord (5–29%)
Multiple fatty lumps	Mõnikord (5–29%)
Stippled calcification of the shoulder	Mõnikord (5–29%)
Abnormality of the sternum	Pole registreeritud
Ankylosis	Pole registreeritud
Calcification of falx cerebri	Pole registreeritud
Hunched back	Pole registreeritud
Scoliosis	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Abnormality of the skin	Väga sageli (80–99%)
Excessive wrinkled skin	Väga sageli (80–99%)
Tight skin	Väga sageli (80–99%)
Blue discoloration of the skin	Sageli (30–79%)
Hanging skin	Sageli (30–79%)
Hyperpigmented papule	Sageli (30–79%)
Loose redundant skin	Sageli (30–79%)
Stretch marks	Sageli (30–79%)
Yellow papule	Sageli (30–79%)
Firm lump under the skin	Mõnikord (5–29%)
Hyperelastic skin	Mõnikord (5–29%)
Civatte bodies	Harva (1–4%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Retinal peau d'orange	Alati
Angioid streaks	Väga sageli (80–99%)
Noninflammatory retina disease	Väga sageli (80–99%)
Choroidal neovascularization	Sageli (30–79%)
Visual impairment	Sageli (30–79%)
Blue outer white part of eyeball	Mõnikord (5–29%)
Decreased clarity of vision	Mõnikord (5–29%)
Macular degeneration	Mõnikord (5–29%)
Metamorphopsia	Mõnikord (5–29%)
Close sighted	Pole registreeritud
Optic disc drusen	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Hearing impairment	Sageli (30–79%)
Conductive deafness	Mõnikord (5–29%)
Mixed hearing impairment	Mõnikord (5–29%)
Sensorineural hearing impairment	Mõnikord (5–29%)
Stapes ankylosis	Mõnikord (5–29%)
Calcification of the auricular cartilage	Harva (1–4%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Elevated alkaline phosphatase of bone origin	Mõnikord (5–29%)
Fever	Mõnikord (5–29%)
Fluid retention	Mõnikord (5–29%)
Hydrops fetalis	Mõnikord (5–29%)
High urine phosphate levels	Harva (1–4%)
Peau d'orange	Pole registreeritud

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Retinal bleeding	Väga sageli (80–99%)
Bruising susceptibility	Sageli (30–79%)
Gastrointestinal bleeding	Sageli (30–79%)
Platelet abnormalities	Mõnikord (5–29%)
Bleeding in brain	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Thickened skin folds of neck	Väga sageli (80–99%)
Abnormality of retinal arteries	Mõnikord (5–29%)
High palate	Pole registreeritud
High, narrow palate	Pole registreeritud
White oral mucosal macule	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Balance impairment	Mõnikord (5–29%)
Irritability	Mõnikord (5–29%)
Encephalomalacia	Harva (1–4%)
Epilepsy	Harva (1–4%)
Severe global developmental delay	Harva (1–4%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Hepatic calcification	Väga sageli (80–99%)
Feeding difficulties	Sageli (30–79%)
Accumulation of fluid in the abdomen	Mõnikord (5–29%)
Vomiting	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Increased calcium level in kidney	Sageli (30–79%)
Medullary nephrocalcinosis	Sageli (30–79%)
Cortical nephrocalcinosis	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Breathing difficulties	Sageli (30–79%)
Decreased DLCO	Sageli (30–79%)
Neonatal respiratory distress	Sageli (30–79%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight in infancy	Mõnikord (5–29%)
Short stature	Mõnikord (5–29%)
Growth abnormality	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Abnormal calcification of the wrist bones	Mõnikord (5–29%)
Stippled calcification of the elbow	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Fetal distress	Alati
High levels of amniotic fluid	Sageli (30–79%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Joint pain	Mõnikord (5–29%)
Death of body tissue due to lack of blood flow or infection	Harva (1–4%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga ABCC6 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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