GACI is inherited in an autosomal recessive pattern. The condition results from an inactivating mutation in the ecto-nucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1 gene) or the ATP-binding C member 6 (ABBC6 gene), leading to decreased inorganic pyrophosphate (PPi). This is a potent inhibitor of calcium deposition in the vessel wall. These mutations allow for unregulated calcium deposition within muscular arteries. The symptoms are caused by<unk>  of large and medium-sized arteries, including the aorta, coronary arteries, and renal arteries. Recently, homozygous or compound heterozygous mutations for ENPP1 gene were reported as causative for the disorder. ENPP1 regulates extracellular inorganic pyrophosphate (PPi), a major inhibitor of extracellular matrix<unk> . The critical period for babies affected by GACI is during the first 6 months after birth. This is due to calcium continuing to build up in the artery walls. If blood flow becomes restricted it can become life threatening. GACI affects males and females equally and occurs in populations all across the world. It is estimated to occur in approximately 1 out of every 391,000 births with the carrier rate being 1:312. Survival statistics vary greatly.
Generalized arterial calcification of infancy
Primary familial brain calcification
Hypertension and brachydactyly syndrome
Multifocal fibrosclerosis
Calcinosis cutis
Lipodermatosclerosis
Normolipoproteinemic xanthomatosis
Universal angiomatosis