エントリ 名称 両側副腎皮質大結節性過形成
下位グループ ACTH非依存性大結節性副腎皮質過形成 (AIMAH)
上位グループ 概要 Bilateral macronodular adrenal hyperplasia (BMAH) is an adrenal disorder characterized by bilateral benign adrenocortical nodules associated with variable levels of cortisol excess. BMAH is an adrenal cause of Cushing's syndrome (CS). An increased activity of the cAMP/PKA pathway is found in the various forms of BMAH. Actors of the cAMP/PKA signaling pathway or genes causing a hereditary familial tumor syndrome including adenomatous polyposis coli gene (APC), menin (MEN1) and fumarate hydratase (FH) can favor or be responsible for the development of BMAH. Recently, a new gene, ARMC5, was identified as a frequent cause of sporadic or familial BMAH.
カテゴリ 内分泌代謝疾患
階層分類 ICD-11 による疾患分類 [BR:jp08403 ]jp08402 ] BRITE hierarchy パスウェイ hsa04927 Cortisol synthesis and secretion
ネットワーク nt06310 CRH-ACTH-cortisol signaling
病因遺伝子 リンク 文献 著者 De Venanzi A, Alencar GA, Bourdeau I, Fragoso MC, Lacroix A
タイトル Primary bilateral macronodular adrenal hyperplasia.
雑誌 文献 著者 Lacroix A
タイトル Heredity and cortisol regulation in bilateral macronodular adrenal hyperplasia.
雑誌 文献 著者 Faillot S, Assie G
タイトル ENDOCRINE TUMOURS: The genomics of adrenocortical tumors.
雑誌 文献 著者 Drougat L, Espiard S, Bertherat J
タイトル Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?
雑誌 文献 著者 Fragoso MC, Domenice S, Latronico AC, Martin RM, Pereira MA, Zerbini MC, Lucon AM, Mendonca BB
タイトル Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.
雑誌 文献 著者 Assie G, Libe R, Espiard S, Rizk-Rabin M, Guimier A, Luscap W, Barreau O, Lefevre L, Sibony M, Guignat L, Rodriguez S, Perlemoine K, Rene-Corail F, Letourneur F, Trabulsi B, Poussier A, Chabbert-Buffet N, Borson-Chazot F, Groussin L, Bertagna X, Stratakis CA, Ragazzon B, Bertherat J
タイトル ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.
雑誌 文献 著者 Chasseloup F, Bourdeau I, Tabarin A, Regazzo D, Dumontet C, Ladurelle N, Tosca L, Amazit L, Proust A, Scharfmann R, Mignot T, Fiore F, Tsagarakis S, Vassiliadi D, Maiter D, Young J, Lecoq AL, Demeocq V, Salenave S, Lefebvre H, Cloix L, Emy P, Dessailloud R, Vezzosi D, Scaroni C, Barbot M, de Herder W, Pattou F, Tetreault M, Corbeil G, Dupeux M, Lambert B, Tachdjian G, Guiochon-Mantel A, Beau I, Chanson P, Viengchareun S, Lacroix A, Bouligand J, Kamenicky P
タイトル Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.
雑誌 LinkDB All DBs
