Familial infantile gigantism

Familial infantile gigantism is a rare, genetic, endocrine disease characterized by early-onset (before the age of five years old) excessive acceleration of linear growth and body size (height Z-score >4.5 SD) due to pituitary mixed growth hormone- and prolactin-secreting adenomas and/or mixed-cell pituitary hyperplasia. Patients present gigantism and may associate acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans.



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: 20

HPO ID 徴候・症状 頻度
HP:0000098 高身長 Very frequent (99-80%)
HP:0000141 無月経 Very frequent (99-80%)
HP:0000280 粗な顔貌 Very frequent (99-80%)
HP:0000303 下顎突出 Very frequent (99-80%)
HP:0000845 成長ホルモン過剰症 Very frequent (99-80%)
HP:0000870 プロラクチン過剰症 Very frequent (99-80%)
HP:0000975 多汗 Very frequent (99-80%)
HP:0001176 大きな手 Very frequent (99-80%)
HP:0001639 肥大型心筋症 Very frequent (99-80%)
HP:0001712 左室肥大 Very frequent (99-80%)
HP:0001833 長い足 Very frequent (99-80%)
HP:0001953 糖尿病性ケトアシドーシス Very frequent (99-80%)
HP:0002007 前頭突出, 額突出 Very frequent (99-80%)
HP:0005616 骨成熟促進 Very frequent (99-80%)
HP:0005978 II 型糖尿病 Very frequent (99-80%)
HP:0011407 不均衡型高身長 Very frequent (99-80%)
HP:0011760 下垂体成長ホルモン細胞腺腫 Very frequent (99-80%)
HP:0012411 恥毛早発 Very frequent (99-80%)
HP:0030269 Increased serum insulin-like growth factor 1 Very frequent (99-80%)
HP:0100829 乳汁漏出 Occasional (29-5%)


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