arterial calcification—generalised—of infancy—2
Definition Arterial calcification—generalised—of infancy—2 is an autosomal recessive disorder (OMIM:614473) characterised by calcification of the internal elastic lamina of muscular arteries and luminal stenosis due to myointimal proliferation. It is often fatal within the first 6 months of life because of myocardial ischemia, resulting in refractory heart failure.
Molecular pathology Loss of function mutations in ABCC6, which encodes an ATP-binding cassette protein that transports various molecules across cell membranes, cause arterial calcification—generalised—of infancy—2.
Synonym GACI, generalised arterial calcification of infancy,