arterial calcification, generalised, of infancy type 2

arterial calcification, generalised, of infancy type 2

An autosomal recessive disorder (OMIM:614473) characterised by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischaemia resulting in refractory heart failure.

Molecular pathology
Caused by loss of function mutations in ABCC6, which encodes a protein of the superfamily of ATP-binding cassette transporters (which transport various molecules across cell membranes).
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