arterial calcification—generalised—of infancy—2

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arterial calcification—generalised—of infancy—22016-11-24T20:39:36+00:00

arterial calcification—generalised—of infancy—2

CARDIOLOGY

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, 

References http://www.uniprot.org/uniprot/O95255   

http://www.omim.org/entry/614473 

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