Traits

Traits linked to ABCC6

ATP binding cassette subfamily C member 6

The Human Phenotype Ontology links 130 traits to ABCC6, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

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

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Periarticular calcification	Altid
Ectopic calcification	Ofte (30–79 %)
Hypophosphatemic rickets	Ofte (30–79 %)
Softening of the bones	Ofte (30–79 %)
Abnormal deposits of calcium in the brain	Nogle gange (5–29 %)
Abnormality of the chest	Nogle gange (5–29 %)
Double-Jointed	Nogle gange (5–29 %)
Fused neck	Nogle gange (5–29 %)
Multiple fatty lumps	Nogle gange (5–29 %)
Stippled calcification of the shoulder	Nogle gange (5–29 %)
Abnormality of the sternum	Ikke registreret
Ankylosis	Ikke registreret
Calcification of falx cerebri	Ikke registreret
Hunched back	Ikke registreret
Scoliosis	Ikke registreret

Abnormality of the integument

Trait	Hvor ofte det ses
Abnormality of the skin	Meget ofte (80–99 %)
Excessive wrinkled skin	Meget ofte (80–99 %)
Tight skin	Meget ofte (80–99 %)
Blue discoloration of the skin	Ofte (30–79 %)
Hanging skin	Ofte (30–79 %)
Hyperpigmented papule	Ofte (30–79 %)
Loose redundant skin	Ofte (30–79 %)
Stretch marks	Ofte (30–79 %)
Yellow papule	Ofte (30–79 %)
Firm lump under the skin	Nogle gange (5–29 %)
Hyperelastic skin	Nogle gange (5–29 %)
Civatte bodies	Sjældent (1–4%)

Abnormality of the eye

Trait	Hvor ofte det ses
Retinal peau d'orange	Altid
Angioid streaks	Meget ofte (80–99 %)
Noninflammatory retina disease	Meget ofte (80–99 %)
Choroidal neovascularization	Ofte (30–79 %)
Visual impairment	Ofte (30–79 %)
Blue outer white part of eyeball	Nogle gange (5–29 %)
Decreased clarity of vision	Nogle gange (5–29 %)
Macular degeneration	Nogle gange (5–29 %)
Metamorphopsia	Nogle gange (5–29 %)
Close sighted	Ikke registreret
Optic disc drusen	Ikke registreret

Abnormality of the ear

Trait	Hvor ofte det ses
Hearing impairment	Ofte (30–79 %)
Conductive deafness	Nogle gange (5–29 %)
Mixed hearing impairment	Nogle gange (5–29 %)
Sensorineural hearing impairment	Nogle gange (5–29 %)
Stapes ankylosis	Nogle gange (5–29 %)
Calcification of the auricular cartilage	Sjældent (1–4%)

Laboratory abnormality

Trait	Hvor ofte det ses
Elevated alkaline phosphatase of bone origin	Nogle gange (5–29 %)
Fever	Nogle gange (5–29 %)
Fluid retention	Nogle gange (5–29 %)
Hydrops fetalis	Nogle gange (5–29 %)
High urine phosphate levels	Sjældent (1–4%)
Peau d'orange	Ikke registreret

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte det ses
Retinal bleeding	Meget ofte (80–99 %)
Bruising susceptibility	Ofte (30–79 %)
Gastrointestinal bleeding	Ofte (30–79 %)
Platelet abnormalities	Nogle gange (5–29 %)
Bleeding in brain	Ikke registreret

Abnormality of head or neck

Trait	Hvor ofte det ses
Thickened skin folds of neck	Meget ofte (80–99 %)
Abnormality of retinal arteries	Nogle gange (5–29 %)
High palate	Ikke registreret
High, narrow palate	Ikke registreret
White oral mucosal macule	Ikke registreret

Abnormality of the nervous system

Trait	Hvor ofte det ses
Balance impairment	Nogle gange (5–29 %)
Irritability	Nogle gange (5–29 %)
Encephalomalacia	Sjældent (1–4%)
Epilepsy	Sjældent (1–4%)
Severe global developmental delay	Sjældent (1–4%)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Hepatic calcification	Meget ofte (80–99 %)
Feeding difficulties	Ofte (30–79 %)
Accumulation of fluid in the abdomen	Nogle gange (5–29 %)
Vomiting	Nogle gange (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Increased calcium level in kidney	Ofte (30–79 %)
Medullary nephrocalcinosis	Ofte (30–79 %)
Cortical nephrocalcinosis	Nogle gange (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Breathing difficulties	Ofte (30–79 %)
Decreased DLCO	Ofte (30–79 %)
Neonatal respiratory distress	Ofte (30–79 %)

Growth abnormality

Trait	Hvor ofte det ses
Faltering weight in infancy	Nogle gange (5–29 %)
Short stature	Nogle gange (5–29 %)
Growth abnormality	Ikke registreret

Abnormality of limbs

Trait	Hvor ofte det ses
Abnormal calcification of the wrist bones	Nogle gange (5–29 %)
Stippled calcification of the elbow	Nogle gange (5–29 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte det ses
Fetal distress	Altid
High levels of amniotic fluid	Ofte (30–79 %)

Constitutional symptom

Trait	Hvor ofte det ses
Joint pain	Nogle gange (5–29 %)
Death of body tissue due to lack of blood flow or infection	Sjældent (1–4%)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

The Human Phenotype Ontology, release 2026-09-01: the traits linked to ABCC6 and how often each is seen. Find out more at hpo.jax.org.

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