Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized 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 ischemia resulting in refractory heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005).
Genetic Heterogeneity of Arterial Calcification
Generalized arterial calcification of infancy-2 (GACI2; 614473) is caused by mutation in the ABCC6 gene (603234) on chromosome 16p13.
Homozygous or compound heterozygous mutation in the NT5E gene (129190) can cause adult-onset of calcification of arteries and joints (211800). [from
OMIM]