エントリ 名称 複合下垂体ホルモン欠損症
上位グループ 概要 Combined pituitary hormone deficiency (CPHD) is a rare disorder that is characterized by the impaired production of growth hormone (GH) and one or more other pituitary hormones. Currently reported genes include PROP1, POU1F1, HESX1, LHX3, LHX4, and OTX2. Mutations of these transcription factor genes cause a wide range of pituitary phenotypes, from severe life-threatening CPHD to isolated GH deficiency.
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 hsa04935 Growth hormone synthesis, secretion and action
hsa04550 Signaling pathways regulating pluripotency of stem cells
ネットワーク 病因遺伝子 リンク 文献 著者 De Rienzo F, Mellone S, Bellone S, Babu D, Fusco I, Prodam F, Petri A, Muniswamy R, De Luca F, Salerno M, Momigliano-Richardi P, Bona G, Giordano M
タイトル Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.
雑誌 文献 著者 Turton JP, Reynaud R, Mehta A, Torpiano J, Saveanu A, Woods KS, Tiulpakov A, Zdravkovic V, Hamilton J, Attard-Montalto S, Parascandalo R, Vella C, Clayton PE, Shalet S, Barton J, Brue T, Dattani MT
タイトル Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
雑誌 文献 著者 Vallette-Kasic S, Barlier A, Teinturier C, Diaz A, Manavela M, Berthezene F, Bouchard P, Chaussain JL, Brauner R, Pellegrini-Bouiller I, Jaquet P, Enjalbert A, Brue T
タイトル PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.
雑誌 文献 著者 Pfaeffle RW, Savage JJ, Hunter CS, Palme C, Ahlmann M, Kumar P, Bellone J, Schoenau E, Korsch E, Bramswig JH, Stobbe HM, Blum WF, Rhodes SJ
タイトル Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.
雑誌 文献 著者 Machinis K, Pantel J, Netchine I, Leger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P, Amselem S
タイトル Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.
雑誌 文献 著者 Thomas PQ, Dattani MT, Brickman JM, McNay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson IC, Beddington RS
タイトル Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.
雑誌 文献 著者 Diaczok D, Romero C, Zunich J, Marshall I, Radovick S
タイトル A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.
雑誌 文献 著者 Verberne EA, Faries S, Mannens MMAM, Postma AV, van Haelst MM
タイトル Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.
雑誌 文献 著者 Bashamboo A, Bignon-Topalovic J, Moussi N, McElreavey K, Brauner R
タイトル Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome.
雑誌 LinkDB All DBs
