Recombinant 8 syndrome

Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.



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
(4.0%)		 23894102
 Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome.
Vera-Carbonell A, Lopez-Gonzalez V, Bafalliu JA, Pinero-Fernandez J, Susmozas J, Sorli M, Lopez-Perez R, Fernandez A, Guillen-Navarro E, Lopez-Exposito I.
Am J Med Genet A. 2013;161A(9):2369-75.
知的障害
REC8
ヒト ヒト8番染色体 女 妊娠 成人 染色体検査 染色体重複 蛍光インサイツハイブリダイゼーション法 表現型 遺伝的組換え 顔貌
        

徴候・症状リスト（Orphanetデータベースから取得）

    合計: 46

HPO ID 徴候・症状 頻度
HP:0000028 停留精巣 Very frequent (99-80%)
HP:0000164 歯の異常 Very frequent (99-80%)
HP:0000316 両眼隔離 Very frequent (99-80%)
HP:0000347 小顎 Very frequent (99-80%)
HP:0000463 上向きの鼻孔 Very frequent (99-80%)
HP:0001249 知的障害 Very frequent (99-80%)
HP:0001263 全般性発達遅滞 Very frequent (99-80%)
HP:0001582 過剰な皮膚 Very frequent (99-80%)
HP:0001595 毛髪の異常 Very frequent (99-80%)
HP:0001869 深い足底屈曲線 Very frequent (99-80%)
HP:0001999 異常な顔の形 Very frequent (99-80%)
HP:0002162 後部毛髪線低位 Very frequent (99-80%)
HP:0002714 口角下垂 Very frequent (99-80%)
HP:0100729 大きな顔 Very frequent (99-80%)
HP:0000046 陰嚢低形成 Frequent (79-30%)
HP:0000050 男性外性器低形成 Frequent (79-30%)
HP:0000077 腎異常 Frequent (79-30%)
HP:0000190 口腔小帯異常 Frequent (79-30%)
HP:0000212 歯肉過成長 Frequent (79-30%)
HP:0000356 外耳の異常 Frequent (79-30%)
HP:0000365 難聴 Frequent (79-30%)
HP:0000369 耳介低位 Frequent (79-30%)
HP:0000389 慢性中耳炎 Frequent (79-30%)
HP:0000464 頸部の異常 Frequent (79-30%)
HP:0000766 胸骨の異常 Frequent (79-30%)
HP:0000767 漏斗胸 Frequent (79-30%)
HP:0001250 発作 Frequent (79-30%)
HP:0001257 痙性 Frequent (79-30%)
HP:0001629 心室中隔欠損 Frequent (79-30%)
HP:0001631 心房中隔欠損 Frequent (79-30%)
HP:0001636 Fallot 四徴症 Frequent (79-30%)
HP:0001643 動脈管開存症 Frequent (79-30%)
HP:0002564 心および大血管奇形 Frequent (79-30%)
HP:0002650 側弯 Frequent (79-30%)
HP:0004209 第5指弯指 Frequent (79-30%)
HP:0004415 肺動脈狭窄 Frequent (79-30%)
HP:0005280 落ちくぼんだ鼻梁 Frequent (79-30%)
HP:0006443 膝蓋骨無形成無形成 Frequent (79-30%)
HP:0007598 両側性単一手掌横線 Frequent (79-30%)
HP:0012471 分厚い唇紅部縁 Frequent (79-30%)
HP:0100490 屈指 Frequent (79-30%)
HP:0000175 口蓋裂 Occasional (29-5%)
HP:0000204 上口唇裂 Occasional (29-5%)
HP:0000478 眼の異常 Occasional (29-5%)
HP:0000504 視覚の異常 Occasional (29-5%)
HP:0004378 肛門の異常 Occasional (29-5%)


徴候・症状リスト（症例報告から取得）

    合計: 1

HPO ID 徴候・症状 症例報告数
HP:0001249 知的障害 1


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