KEGG   DISEASE: H01002Help
Entry
H01002                      Disease                                

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
BRITE hierarchy
Pathway
Purine metabolism
Starch and sucrose metabolism
Riboflavin metabolism
Nicotinate and nicotinamide metabolism
Pantothenate and CoA biosynthesis
Metabolic pathways
Gene
ENPP1 [HSA:5167] [KO:K01513]
Drug
Disodium pamidronate [DG:DG00782]
Risedronate sodium [DG:DG00786]
Comment
Spontaneous pathologic arterial calcifications in childhood can occur in both GACI and pseudoxanthoma elasticum (H00560).
Other DBs
OMIM: 
Reference
PMID:22209248 (gene)
  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)
Reference
PMID:22229486 (gene)
  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)
Reference
PMID:19229237 (description, drug)
  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)
Reference
PMID:15940697 (description)
  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)

» Japanese version

DBGET integrated database retrieval system