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	How often it is seen
Abdominal aortic calcification	Always
Arterial calcification	Always
Cardiac failure	Always
Cardiogenic shock	Always
Carotid artery calcification	Always
Coronary artery calcification	Always
Enlarged heart	Always
Generalized arterial calcification	Always
Heart attack	Always
Narrowing of kidney artery	Always
Reduced left ventricular ejection fraction	Always
Stretched and thinned heart muscle	Always
Abnormal cardiovascular system morphology	Very often (80–99%)
Abnormality of the cerebral blood vessels	Very often (80–99%)
Calcification of the aorta	Very often (80–99%)
Narrowing of an artery	Very often (80–99%)
High blood pressure	Often (30–79%)
Intermittent claudication	Often (30–79%)
Left ventricular systolic dysfunction	Often (30–79%)
Medial calcification of large arteries	Often (30–79%)
Medial calcification of medium-sized arteries	Often (30–79%)
Mitral regurgitation	Often (30–79%)
Right atrial enlargement	Often (30–79%)
Sinus tachycardia	Often (30–79%)
Tricuspid regurgitation	Often (30–79%)
Abnormal endocardium morphology	Sometimes (5–29%)
Angina pectoris	Sometimes (5–29%)
Fluid around heart	Sometimes (5–29%)
Mini stroke	Sometimes (5–29%)
Mitral valve prolapse	Sometimes (5–29%)
Narrowing of aortic valve	Sometimes (5–29%)
Renovascular hypertension	Sometimes (5–29%)
Restrictive cardiomyopathy	Sometimes (5–29%)
Stroke	Sometimes (5–29%)
Sudden cardiac death	Sometimes (5–29%)
Telangiectasia of the skin	Sometimes (5–29%)
Ventricular hypertrophy	Sometimes (5–29%)
Weak pulse	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Rarely (1–4%)
Mitral stenosis	Rarely (1–4%)
Myocardial calcification	Rarely (1–4%)
Plaque build-up in arteries supplying blood to heart	Rarely (1–4%)
Tear in inner wall of large artery that carries blood away from heart	Rarely (1–4%)
Accelerated plaque build-up in arteries	Not recorded
Hardened artery wall	Not recorded
Premature occlusive vascular stenosis	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Periarticular calcification	Always
Ectopic calcification	Often (30–79%)
Hypophosphatemic rickets	Often (30–79%)
Softening of the bones	Often (30–79%)
Abnormal deposits of calcium in the brain	Sometimes (5–29%)
Abnormality of the chest	Sometimes (5–29%)
Double-Jointed	Sometimes (5–29%)
Fused neck	Sometimes (5–29%)
Multiple fatty lumps	Sometimes (5–29%)
Stippled calcification of the shoulder	Sometimes (5–29%)
Abnormality of the sternum	Not recorded
Ankylosis	Not recorded
Calcification of falx cerebri	Not recorded
Hunched back	Not recorded
Scoliosis	Not recorded

Abnormality of the integument

Trait	How often it is seen
Abnormality of the skin	Very often (80–99%)
Excessive wrinkled skin	Very often (80–99%)
Tight skin	Very often (80–99%)
Blue discoloration of the skin	Often (30–79%)
Hanging skin	Often (30–79%)
Hyperpigmented papule	Often (30–79%)
Loose redundant skin	Often (30–79%)
Stretch marks	Often (30–79%)
Yellow papule	Often (30–79%)
Firm lump under the skin	Sometimes (5–29%)
Hyperelastic skin	Sometimes (5–29%)
Civatte bodies	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Retinal peau d'orange	Always
Angioid streaks	Very often (80–99%)
Noninflammatory retina disease	Very often (80–99%)
Choroidal neovascularization	Often (30–79%)
Visual impairment	Often (30–79%)
Blue outer white part of eyeball	Sometimes (5–29%)
Decreased clarity of vision	Sometimes (5–29%)
Macular degeneration	Sometimes (5–29%)
Metamorphopsia	Sometimes (5–29%)
Close sighted	Not recorded
Optic disc drusen	Not recorded

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)
Conductive deafness	Sometimes (5–29%)
Mixed hearing impairment	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)
Stapes ankylosis	Sometimes (5–29%)
Calcification of the auricular cartilage	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Elevated alkaline phosphatase of bone origin	Sometimes (5–29%)
Fever	Sometimes (5–29%)
Fluid retention	Sometimes (5–29%)
Hydrops fetalis	Sometimes (5–29%)
High urine phosphate levels	Rarely (1–4%)
Peau d'orange	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Retinal bleeding	Very often (80–99%)
Bruising susceptibility	Often (30–79%)
Gastrointestinal bleeding	Often (30–79%)
Platelet abnormalities	Sometimes (5–29%)
Bleeding in brain	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Thickened skin folds of neck	Very often (80–99%)
Abnormality of retinal arteries	Sometimes (5–29%)
High palate	Not recorded
High, narrow palate	Not recorded
White oral mucosal macule	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Balance impairment	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Encephalomalacia	Rarely (1–4%)
Epilepsy	Rarely (1–4%)
Severe global developmental delay	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Hepatic calcification	Very often (80–99%)
Feeding difficulties	Often (30–79%)
Accumulation of fluid in the abdomen	Sometimes (5–29%)
Vomiting	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Increased calcium level in kidney	Often (30–79%)
Medullary nephrocalcinosis	Often (30–79%)
Cortical nephrocalcinosis	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Often (30–79%)
Decreased DLCO	Often (30–79%)
Neonatal respiratory distress	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Sometimes (5–29%)
Short stature	Sometimes (5–29%)
Growth abnormality	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormal calcification of the wrist bones	Sometimes (5–29%)
Stippled calcification of the elbow	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Fetal distress	Always
High levels of amniotic fluid	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Joint pain	Sometimes (5–29%)
Death of body tissue due to lack of blood flow or infection	Rarely (1–4%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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