エントリ 名称 四肢顔面骨形成不全症
下位グループ Nager 型四肢顔面骨形成不全症 (AFD1)
Cincinnati 型四肢顔面骨形成不全症 (AFDCIN)
Miller症候群/ 軸後性四肢顔面骨形成不全症 (POADS)
Weyers 四肢顔面骨形成不全症 [DS:
H02158 ]
概要 Acrofacial dysostosis (AFD) is a heterogeneous group of disorders combining mandibulofacial dysostosis (micrognathia and ear anomalies) with limb defects. The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genee-Wiedemann or Miller syndrome. Among several AFDs, causative mutations have recently been identified in an enzyme involved in pyrimidine biosynthesis in association with Miller syndrome, and in a component of the pre-mRNA spliceosomal complex with respect to Nager syndrome.
カテゴリ 先天奇形
階層分類 ICD-11 による疾患分類 [BR:jp08403 ]jp08402 ] パスウェイ ネットワーク 病因遺伝子 リンク 文献 著者 Opitz JM, Mollica F, Sorge G, Milana G, Cimino G, Caltabiano M
タイトル Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis.
雑誌 文献 著者 Trainor PA, Andrews BT
タイトル Facial dysostoses: Etiology, pathogenesis and management.
雑誌 文献 著者 Verrotti C, Benassi G, Piantelli G, Magnani C, Giordano G, Gramellini D
タイトル Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review.
雑誌 文献 著者 Wieczorek D
タイトル Human facial dysostoses.
雑誌 文献 著者 Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS
タイトル Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
雑誌 文献 著者 Weaver KN, Watt KE, Hufnagel RB, Navajas Acedo J, Linscott LL, Sund KL, Bender PL, Konig R, Lourenco CM, Hehr U, Hopkin RJ, Lohmann DR, Trainor PA, Wieczorek D, Saal HM
タイトル Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
雑誌 文献 著者 Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ
タイトル Exome sequencing identifies the cause of a mendelian disorder.
雑誌 文献 著者 Ye X, Song G, Fan M, Shi L, Jabs EW, Huang S, Guo R, Bian Z
タイトル A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.
雑誌 文献 著者 Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J
タイトル Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
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