H01002 | |
H number | H01002 |
Name | Generalized arterial calcification of infancy |
Description | Generalized arterial calcification of infancy (GACI) is a rare and often fatal genetic disorder, characterized by calcification of the internal elastic lamina, fibrotic myointimal proliferation of muscular arteries, and resultant arterial stenosis. GACI is associated with biallelic inactivating mutations in ENPP1 in about 75% of the cases. ENPP1 generates PPi that inhibits hydroxyapatite crystal growth. |
Category | Cardiovascular disease |
Network | - |
Gene | (GACI1) ENPP1 [HSA:5167] [KO:K01513] (GACI2) ABCC6 [HSA:368] [KO:K05669] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | Spontaneous pathologic arterial calcifications in childhood can occur in both GACI and pseudoxanthoma elasticum (H00560). |
Other DBs | ICD-11: BD52.Y ICD-10: Q28.8 MeSH: C537440 OMIM: 208000 614473 |
Reference | PMID:19229237 AUTHORS Ramjan KA, Roscioli T, Rutsch F, Sillence D, Munns CF TITLE Generalized arterial calcification of infancy: treatment with bisphosphonates. JOURNAL Nat Clin Pract Endocrinol Metab 5:167-72 (2009) DOI:10.1038/ncpendmet1067 PMID:15940697 AUTHORS Cheng KS, Chen MR, Ruf N, Lin SP, Rutsch F TITLE Generalized arterial calcification of infancy: different clinical courses in two affected siblings. JOURNAL Am J Med Genet A 136:210-3 (2005) DOI:10.1002/ajmg.a.30800 PMID:22229486 (ENPP1) AUTHORS Li Q, Schumacher W, Jablonski D, Siegel D, Uitto J TITLE Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene. JOURNAL Br J Dermatol 166:1107-11 (2012) DOI:10.1111/j.1365-2133.2012.10811.x PMID:22209248 (ENPP1 ABCC6) AUTHORS Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Hohne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F TITLE Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6. JOURNAL Am J Hum Genet 90:25-39 (2012) DOI:10.1016/j.ajhg.2011.11.020 |