Radio-renal syndrome

Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.



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: 24

HPO ID 徴候・症状 頻度
HP:0000003 多嚢胞腎異形成 Very frequent (99-80%)
HP:0000104 腎無発生 Very frequent (99-80%)
HP:0000110 腎異形成 Very frequent (99-80%)
HP:0000278 下顎後退 Very frequent (99-80%)
HP:0000347 小顎 Very frequent (99-80%)
HP:0000444 凸の鼻梁 Very frequent (99-80%)
HP:0000470 短い頸部 Very frequent (99-80%)
HP:0000772 肋骨の異常 Very frequent (99-80%)
HP:0001156 短指症候群 Very frequent (99-80%)
HP:0002094 呼吸困難 Very frequent (99-80%)
HP:0002098 呼吸窮迫 Very frequent (99-80%)
HP:0002202 胸膜滲出液 Very frequent (99-80%)
HP:0002705 高狭口蓋 Very frequent (99-80%)
HP:0002714 口角下垂 Very frequent (99-80%)
HP:0002878 呼吸不全 Very frequent (99-80%)
HP:0002983 小肢症 Very frequent (99-80%)
HP:0002984 橈骨低形成 Very frequent (99-80%)
HP:0003312 椎体骨形態異常 Very frequent (99-80%)
HP:0003510 重度の低身長 Very frequent (99-80%)
HP:0004279 短い手掌 Very frequent (99-80%)
HP:0005280 落ちくぼんだ鼻梁 Very frequent (99-80%)
HP:0008678 腎低形成/無形成 Very frequent (99-80%)
HP:0009811 肘異常 Very frequent (99-80%)
HP:0010310 乳糜胸 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