| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.8%) |
27991732 |
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. Kosaki R, Terashima H, Kubota M, Kosaki K. Am J Med Genet A. 2017;173(1):250-253. |
| 丸い顔 臍ヘルニア Narrow palpebral fissure | ||
| DNMT3A | ||
| p|SUB|R|882|H;RS#:147001633 | ||
| C5-シトシンDNAメチル基転移酵素 DNAメチル化 DNA変異解析 アミノ酸置換 ハイスループット核酸シーケンシング ヒト 変異 女 子供（未就学） 急性骨髄性白血病 成長曲線 症候群 表現型 遺伝子関連解析 |
合計: 40
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000256 | 大頭 | Very frequent (99-80%) |
| HP:0011407 | 不均衡型高身長 | Very frequent (99-80%) |
| HP:0000708 | 行動異常 | Frequent (79-30%) |
| HP:0001513 | 肥満 | Frequent (79-30%) |
| HP:0002342 | 知的障害, 中等度 | Frequent (79-30%) |
| HP:0002751 | 後側弯 | Frequent (79-30%) |
| HP:0008947 | 乳児筋性筋緊張低下 | Frequent (79-30%) |
| HP:0000028 | 停留精巣 | Occasional (29-5%) |
| HP:0000280 | 粗な顔貌 | Occasional (29-5%) |
| HP:0000311 | 丸い顔 | Occasional (29-5%) |
| HP:0000574 | 分厚い眉毛 | Occasional (29-5%) |
| HP:0000739 | 不安 | Occasional (29-5%) |
| HP:0001250 | 発作 | Occasional (29-5%) |
| HP:0001256 | 知的障害, 軽度 | Occasional (29-5%) |
| HP:0001382 | 関節過動 | Occasional (29-5%) |
| HP:0001566 | 上顎門歯間隔離 | Occasional (29-5%) |
| HP:0001631 | 心房中隔欠損 | Occasional (29-5%) |
| HP:0001831 | 短い趾 | Occasional (29-5%) |
| HP:0002119 | 脳室拡大 | Occasional (29-5%) |
| HP:0002308 | Arnold-Chiari 奇形 | Occasional (29-5%) |
| HP:0002376 | 発達退行 | Occasional (29-5%) |
| HP:0008094 | 趾間隔離 | Occasional (29-5%) |
| HP:0010864 | 知的障害, 重度 | Occasional (29-5%) |
| HP:0045025 | Narrow palpebral fissure | Occasional (29-5%) |
| HP:0100753 | 統合失調症 | Occasional (29-5%) |
| HP:0000303 | 下顎突出 | Very rare (4-1%) |
| HP:0000316 | 両眼隔離 | Very rare (4-1%) |
| HP:0000718 | 攻撃的行動 | Very rare (4-1%) |
| HP:0001537 | 臍ヘルニア | Very rare (4-1%) |
| HP:0001643 | 動脈管開存症 | Very rare (4-1%) |
| HP:0001653 | 僧帽弁逆流 | Very rare (4-1%) |
| HP:0002000 | 短い鼻小柱 | Very rare (4-1%) |
| HP:0002002 | 深い人中 | Very rare (4-1%) |
| HP:0002616 | 大動脈基部拡大 | Very rare (4-1%) |
| HP:0003508 | 不均衡型低身長 | Very rare (4-1%) |
| HP:0005180 | 三尖弁逆流 | Very rare (4-1%) |
| HP:0007302 | 双極性感情障害 | Very rare (4-1%) |
| HP:0011688 | 副伝導路系を伴う上室性頻拍 | Very rare (4-1%) |
| HP:0012324 | 骨髄性白血病 | Very rare (4-1%) |
| HP:0100634 | 神経内分泌新生物 | Very rare (4-1%) |
合計: 0
| HPO ID | 徴候・症状 | 症例報告数 |
|---|