KEGG   DISEASE: Generalized arterial calcification of infancyHelp
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
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
BRITE hierarchy
Pathway
hsa00230  Purine metabolism
hsa00500  Starch and sucrose metabolism
hsa00740  Riboflavin metabolism
hsa00760  Nicotinate and nicotinamide metabolism
hsa00770  Pantothenate and CoA biosynthesis
hsa01100  Metabolic pathways
Gene
ENPP1 [HSA:5167] [KO:K01513]
ABCC6 [HSA:368] [KO:K05669]
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
  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
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)
DOI:10.1038/ncpendmet1067
Reference
  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
Reference
  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

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