AREDYLD syndrome

A syndrome that has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.



患者の 徴候・症状 を入力


症例報告を絞り込む



合計: 1 （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)
1
(17.5%)		 1488989
 Ectodermal dysplasia, lipoatrophy, diabetes mellitus, and amastia: a second case of the AREDYLD syndrome.
Breslau-Siderius EJ, Toonstra J, Baart JA, Koppeschaar HP, Maassen JA, Beemer FA.
Am J Med Genet. 1992;44(3):374-7.
糖尿病 脂肪萎縮
インスリン インスリン様増殖因子I ヒト 乳房 外胚葉異形成症 女 成人 歯牙異常 症候群 脂肪萎縮性糖尿病 脂質
        

徴候・症状リスト（Orphanetデータベースから取得）

    合計: 26

HPO ID 徴候・症状 頻度
HP:0000069 尿管異常 Very frequent (99-80%)
HP:0000160 狭い口 Very frequent (99-80%)
HP:0000303 下顎突出 Very frequent (99-80%)
HP:0000319 平坦な人中 Very frequent (99-80%)
HP:0000368 低位の後方回転した耳介 Very frequent (99-80%)
HP:0000582 眼瞼裂斜上 Very frequent (99-80%)
HP:0000682 歯エナメル質異常 Very frequent (99-80%)
HP:0001156 短指症候群 Very frequent (99-80%)
HP:0001511 子宮内成長遅滞 Very frequent (99-80%)
HP:0001744 脾腫 Very frequent (99-80%)
HP:0002231 疎な体毛 Very frequent (99-80%)
HP:0002240 肝腫大 Very frequent (99-80%)
HP:0002644 骨盤帯骨の形態異常 Very frequent (99-80%)
HP:0002650 側弯 Very frequent (99-80%)
HP:0004322 低身長 Very frequent (99-80%)
HP:0004326 悪液質 (カヘキシー) Very frequent (99-80%)
HP:0004493 頭蓋顔面過骨症 Very frequent (99-80%)
HP:0004828 環状鉄芽球を伴う難治性貧血 Very frequent (99-80%)
HP:0005105 異常な鼻形態 Very frequent (99-80%)
HP:0005978 II 型糖尿病 Very frequent (99-80%)
HP:0006288 歯萌出促進 Very frequent (99-80%)
HP:0009912 耳珠の異常 Very frequent (99-80%)
HP:0010311 乳房無形成/低形成 Very frequent (99-80%)
HP:0100578 脂肪萎縮 Very frequent (99-80%)
HP:0100651 I 型糖尿病 Very frequent (99-80%)
HP:0100840 眉毛の無形成/低形成 Very frequent (99-80%)


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