KEGG DISEASE: 乳児全身性動脈石灰化 (GACI)

DISEASE: 乳児全身性動脈石灰化 (GACI)

エントリ

H01002

名称

乳児全身性動脈石灰化 (GACI)

概要

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.

カテゴリ

循環器系疾患

階層分類

ICD-11 による疾患分類 [BR:jp08403]
11 循環器系の疾患
  動脈または細動脈の疾患
   BD52  明示された動脈または細動脈の疾患
    H01002  乳児全身性動脈石灰化 (GACI)

パスウェイ

hsa00230

Purine metabolism

hsa00500

Starch and sucrose metabolism

hsa00740

Riboflavin metabolism

hsa00760

Nicotinate and nicotinamide metabolism

hsa00770

Pantothenate and CoA biosynthesis

病因遺伝子

(GACI1) ENPP1 [HSA:5167] [KO:K01513]
(GACI2) ABCC6 [HSA:368] [KO:K05669]

Spontaneous pathologic arterial calcifications in childhood can occur in both GACI and pseudoxanthoma elasticum (H00560).

リンク

ICD-11:

BD52.Y

MeSH:

C537440

OMIM:

208000 614473

文献

PMID:19229237

著者

Ramjan KA, Roscioli T, Rutsch F, Sillence D, Munns CF

タイトル

Generalized arterial calcification of infancy: treatment with bisphosphonates.

雑誌

Nat Clin Pract Endocrinol Metab 5:167-72 (2009)
DOI:10.1038/ncpendmet1067

文献

PMID:15940697

著者

Cheng KS, Chen MR, Ruf N, Lin SP, Rutsch F

タイトル

Generalized arterial calcification of infancy: different clinical courses in two affected siblings.

雑誌

Am J Med Genet A 136:210-3 (2005)
DOI:10.1002/ajmg.a.30800

文献

PMID:22229486 (ENPP1)

著者

Li Q, Schumacher W, Jablonski D, Siegel D, Uitto J

タイトル

Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene.

雑誌

Br J Dermatol 166:1107-11 (2012)
DOI:10.1111/j.1365-2133.2012.10811.x

文献

PMID:22209248 (ENPP1 ABCC6)

著者

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

タイトル

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6.

雑誌

Am J Hum Genet 90:25-39 (2012)
DOI:10.1016/j.ajhg.2011.11.020

LinkDB

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