Arterial Calcification of Infancy

Common Name(s)

Arterial Calcification of Infancy

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 {19:Rutsch et al., 2003} and {3: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 16p13.11. Homozygous or compound heterozygous mutation in the NT5E gene ({129190}) can cause adult-onset of calcification of arteries and joints ({211800}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Arterial Calcification of Infancy" for support, advocacy or research.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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