49,XYYYY syndrome

49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.



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%)		 28137251
(5282903)
 Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature.
Demily C, Poisson A, Peyroux E, Gatellier V, Nicolas A, Rigard C, Schluth-Bolard C, Sanlaville D, Rossi M.
BMC Med Genet. 2017;18(1):9.
自閉症
ターナー症候群 テトラソミー ヒト ヒトY染色体 成人 男 自閉症スペクトラム障害 表現型
        

徴候・症状リスト（Orphanetデータベースから取得）

    合計: 43

HPO ID 徴候・症状 頻度
HP:0000026 男性性腺機能低下症 Very frequent (99-80%)
HP:0000027 無精子症 Very frequent (99-80%)
HP:0000119 泌尿生殖器異常 Very frequent (99-80%)
HP:0000280 粗な顔貌 Very frequent (99-80%)
HP:0000316 両眼隔離 Very frequent (99-80%)
HP:0000347 小顎 Very frequent (99-80%)
HP:0000368 低位の後方回転した耳介 Very frequent (99-80%)
HP:0000708 行動異常 Very frequent (99-80%)
HP:0000744 フラストレーション耐性低下 Very frequent (99-80%)
HP:0000750 発語および言語発達遅延 Very frequent (99-80%)
HP:0000771 女性型乳房 Very frequent (99-80%)
HP:0000837 ゴナドトロピン過剰症 Very frequent (99-80%)
HP:0001249 知的障害 Very frequent (99-80%)
HP:0001252 筋緊張低下 Very frequent (99-80%)
HP:0001263 全般性発達遅滞 Very frequent (99-80%)
HP:0001999 異常な顔の形 Very frequent (99-80%)
HP:0002119 脳室拡大 Very frequent (99-80%)
HP:0002500 大脳白質の異常 Very frequent (99-80%)
HP:0002650 側弯 Very frequent (99-80%)
HP:0002750 骨格骨化遅延 Very frequent (99-80%)
HP:0002788 反復性上気道感染症 Very frequent (99-80%)
HP:0002967 外反肘 Very frequent (99-80%)
HP:0002974 橈尺骨癒合 Very frequent (99-80%)
HP:0003241 外性器低形成 Very frequent (99-80%)
HP:0003782 類宦官体型 Very frequent (99-80%)
HP:0003946 肘骨端の異常 Very frequent (99-80%)
HP:0004237 大きな手根骨 Very frequent (99-80%)
HP:0008193 原発性性腺不全 Very frequent (99-80%)
HP:0008734 精巣サイズ減少 Very frequent (99-80%)
HP:0009237 短い第5指 Very frequent (99-80%)
HP:0011310 分岐した手掌屈曲線 Very frequent (99-80%)
HP:0011343 中等度の全般性発達遅滞 Very frequent (99-80%)
HP:0040019 Finger clinodactyly Very frequent (99-80%)
HP:0040171 Decreased serum testosterone level Very frequent (99-80%)
HP:0045058 Abnormality of the testis size Very frequent (99-80%)
HP:0100710 衝動性 Very frequent (99-80%)
HP:0000243 三角頭蓋 Occasional (29-5%)
HP:0000262 塔状頭 Occasional (29-5%)
HP:0000394 垂耳 Occasional (29-5%)
HP:0000519 先天性白内障 Occasional (29-5%)
HP:0001176 大きな手 Occasional (29-5%)
HP:0002761 全身性関節弛緩 Occasional (29-5%)
HP:0100559 下肢非対称 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