KEGG   DISEASE: Generalized arterial calcification of infancy
H01002                      Disease                                

Generalized arterial calcification of infancy
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.
Cardiovascular disease
Human diseases [BR:br08402]
 Cardiovascular diseases
  Vascular diseases
   H01002  Generalized arterial calcification of infancy
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Diseases of arteries or arterioles
   BD52  Certain specified disorders of arteries or arterioles
    H01002  Generalized arterial calcification of infancy
hsa00230  Purine metabolism
hsa00500  Starch and sucrose metabolism
hsa00740  Riboflavin metabolism
hsa00760  Nicotinate and nicotinamide metabolism
hsa00770  Pantothenate and CoA biosynthesis
hsa01100  Metabolic pathways
ENPP1 [HSA:5167] [KO:K01513]
ABCC6 [HSA:368] [KO:K05669]
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
Li Q, Schumacher W, Jablonski D, Siegel D, Uitto J
Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene.
Br J Dermatol 166:1107-11 (2012)
PMID:19229237 (description, drug)
Ramjan KA, Roscioli T, Rutsch F, Sillence D, Munns CF
Generalized arterial calcification of infancy: treatment with bisphosphonates.
Nat Clin Pract Endocrinol Metab 5:167-72 (2009)
Cheng KS, Chen MR, Ruf N, Lin SP, Rutsch F
Generalized arterial calcification of infancy: different clinical courses in two affected siblings.
Am J Med Genet A 136:210-3 (2005)
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
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6.
Am J Hum Genet 90:25-39 (2012)

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