KEGG DISEASE: Arterial tortuosity-bone fragility syndrome

KEGG

DISEASE: Arterial tortuosity-bone fragility syndrome

Entry

H02830                      Disease

Name

Arterial tortuosity-bone fragility syndrome

Description

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.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD28  Syndromes with connective tissue involvement as a major feature
    H02830  Arterial tortuosity-bone fragility syndrome

Gene

EMILIN1 [HSA:11117] [KO:K24246]

Other DBs

ICD-11:

OMIM:

Reference

Authors

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

Title

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

Journal

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

Reference

Authors

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

Title

EMILIN-1 deficiency induces elastogenesis and vascular cell defects.

Journal

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

LinkDB

» Japanese version

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