KEGG DISEASE: 動脈蛇行・骨脆弱症候群

DISEASE: 動脈蛇行・骨脆弱症候群

エントリ

H02830

名称

動脈蛇行・骨脆弱症候群

概要

Arterial tortuosity-bone fragility syndrome (ATBFS) is a novel cutis laxa syndrome characterized by arterial tortuosity, aneurysm formation, and osteopenia. It has been reported that loss-of-function mutations in EMILIN1 cause this syndrome. EMILIN1 is a structural component of the elastic fiber network and localizes to the interface between the fibrillin microfibril scaffold and the elastin core. It is suggested that EMILIN1 connects elastic fiber network with collagen fibril formation, relevant for both bone and vascular tissue homeostasis.

カテゴリ

先天奇形

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
  多発性の発達異常または症候群
   LD28  主な特徴として結合組織の異常を伴う症候群
    H02830  動脈蛇行・骨脆弱症候群

病因遺伝子

EMILIN1 [HSA:11117] [KO:K24246]

リンク

ICD-11:

LD28.Y

OMIM:

620908

文献

PMID:36351433

著者

Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Morgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M, Pottie L, Muino-Mosquera L, Gulec EY, Gezdirici A, Braghetta P, Bonaldo P, Wagener R, Paulsson M, Bornaun H, De Rycke R, De Bruyne M, Baeke F, Devine WP, Gangaram B, Tam A, Balasubramanian M, Ellard S, Moore S, Symoens S, Shen J, Cole S, Schwarze U, Holmes KW, Hayflick SJ, Wiszniewski W, Nampoothiri S, Davis EC, Sakai LY, Sengle G, Callewaert B

タイトル

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.

雑誌

Am J Hum Genet 109:2230-2252 (2022)
DOI:10.1016/j.ajhg.2022.10.010

文献

PMID:14701737

著者

Zanetti M, Braghetta P, Sabatelli P, Mura I, Doliana R, Colombatti A, Volpin D, Bonaldo P, Bressan GM

タイトル

EMILIN-1 deficiency induces elastogenesis and vascular cell defects.

雑誌

Mol Cell Biol 24:638-50 (2004)
DOI:10.1128/MCB.24.2.638-650.2004

LinkDB

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