OMIM

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). For a general phenotypic description and a discussion of genetic heterogeneity of GACI, see GACI1 (208000). Pseudoxanthoma elasticum (PXE; 264800) is an allelic disorder caused by mutation in the ABCC6 gene; it has been suggested that GACI and PXE represent 2 ends of a clinical spectrum of ectopic calcification and other organ pathologies rather than 2 distinct disorders (Nitschke et al., 2012). (614473)

MalaCards based summary

Arterial Calcification, Generalized, of Infancy, 2, also known as gaci2, is related to pseudoxanthoma elasticum, and has symptoms including hypertension, myocardial infarction and congestive heart failure. An important gene associated with Arterial Calcification, Generalized, of Infancy, 2 is ABCC6 (ATP Binding Cassette Subfamily C Member 6). Affiliated tissues include heart.

UniProtKB/Swiss-Prot

Arterial calcification of infancy, generalized, 2: A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure.