Cystic fibrosis-gastritis-megaloblastic anemia syndrome

Cystic fibrosis-gastritis-megaloblastic anemia, or Lubani-Al Saleh-Teebi syndrome, is a rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with <i>Helicobacter pylori</i>, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.



患者の 徴候・症状 を入力


症例報告を絞り込む



合計: 0 （症例報告）
  


（表示件数）
対応する徴候・症状  遺伝子  変異  キーワード（MeSH）
順位
（類似度）		 PMID
(PMCID)
        

徴候・症状リスト（Orphanetデータベースから取得）

    合計: 18

HPO ID 徴候・症状 頻度
HP:0000316 両眼隔離 Very frequent (99-80%)
HP:0000400 大耳 Very frequent (99-80%)
HP:0000431 幅広い鼻梁 Very frequent (99-80%)
HP:0000490 落ちくぼんだ眼 Very frequent (99-80%)
HP:0000506 内眼角外方偏位 Very frequent (99-80%)
HP:0001249 知的障害 Very frequent (99-80%)
HP:0001877 赤血球の異常 Very frequent (99-80%)
HP:0001889 巨赤芽球性貧血 Very frequent (99-80%)
HP:0002007 前頭突出, 額突出 Very frequent (99-80%)
HP:0002014 下痢 Very frequent (99-80%)
HP:0002205 反復性呼吸器感染症 Very frequent (99-80%)
HP:0004826 葉酸不応性巨赤芽球性貧血 Very frequent (99-80%)
HP:0005263 胃炎 Very frequent (99-80%)
HP:0000047 尿道下裂 Frequent (79-30%)
HP:0000049 襟巻陰嚢 Frequent (79-30%)
HP:0000100 ネフローゼ症候群 Frequent (79-30%)
HP:0000347 小顎 Frequent (79-30%)
HP:0000807 亀頭部尿道下裂 Frequent (79-30%)


徴候・症状リスト（症例報告から取得）

    合計: 0

HPO ID 徴候・症状 症例報告数


疾患原因遺伝子リスト（Orphanetデータベースから取得）

    合計: 0

Gene Symbol 遺伝子名 Entrez Gene ID