| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (51.2%) |
27075689 |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Am J Med Genet A. 2016;170(7):1863-7. |
| 上向きの鼻孔 手の尺側偏位 | ||
| ASXL1 ASXL3 | ||
| rs1555742087 rs1555742500 rs1555743003 rs1555743005 rs1555744282 | ||
| RNAスプライシング エクソーム ヒト ヘテロ接合体 変異 女 子供（未就学） 発達障害 知的障害 表現型 遺伝子発現制御 頭蓋縫合早期癒合症 | ||
| 2 (46.2%) |
27901041 |
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. Kuechler A, Czeschik JC, Graf E, Grasshoff U, Huffmeier U, Busa T, Beck-Woedl S, Faivre L, Riviere JB, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Ludecke HJ, Wieczorek D. Eur J Hum Genet. 2017;25(2):183-191. |
| 三角頭蓋 眼瞼裂斜下 高狭口蓋 | ||
| ASXL3 | ||
| rs1555742087 rs1555742500 rs1555743005 rs1555744282 | ||
| ヒト 変異 女 子供（未就学） 幼児 男 症候群 発達障害 表現型 高度虚弱 | ||
| 3 (39.0%) |
29074562 |
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, Study D, Riviere JB, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C, Thevenon J. J Med Genet. 2017;54(12):830-835. |
| 小頭 | ||
| CRLF1 KLHL7 | ||
| ヒト 劣性遺伝子 変異 女 子供（未就学） 幼児 男 知的障害 磁気共鳴画像法 脳 自己抗原 若年成人 表現型 遺伝子関連解析 頭蓋縫合早期癒合症 顔貌 | ||
| 3 (39.0%) |
19606480 |
Evolution of a patient with Bohring-Opitz syndrome. Pierron S, Richelme C, Triolo V, Mas JC, Griffet J, Karmous-Benailly H, Quere M, Kaname T, Lambert JC, Giuliano F. Am J Med Genet A. 2009;149A(8):1754-7. |
| 小頭 | ||
| ヒト 先天性手変形 女 子供 子供（未就学） 幼児 新生児 症候群 磁気共鳴画像法 頸椎 | ||
| 3 (39.0%) |
17847009 |
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K. Am J Hum Genet. 2007;81(4):835-41. |
| 三角頭蓋 | ||
| CD96 | ||
| c|SUB|C|839|T;RS#:119477056 p|SUB|T|280|M;RS#:119477056 rs119477056 rs200703204 | ||
| CD抗原 DNAプライマー ヒト ヒト3番染色体 マウス ミスセンス変異 動物 塩基配列 変異 女 男 症候群 細胞接着 蛍光インサイツハイブリダイゼーション法 表現型 遺伝子発現 頭蓋顔面奇形 | ||
| 3 (39.0%) |
10405439 |
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Bohring A, Silengo M, Lerone M, Superneau DW, Spaich C, Braddock SR, Poss A, Opitz JM. Am J Med Genet. 1999;85(5):438-46. |
| 三角頭蓋 | ||
| ヒト 女 幼児 男 症候群 脳 頭蓋顔面奇形 | ||
| 7 (36.6%) |
16691589 |
New cases of Bohring-Opitz syndrome, update, and critical review of the literature. Bohring A, Oudesluijs GG, Grange DK, Zampino G, Thierry P. Am J Med Genet A. 2006;140(12):1257-63. |
| 両眼隔離 眼瞼裂斜上 唇裂 | ||
| ヒト 前頭 口蓋裂 女 幼児 新生児 男 症候群 眼球突出 致死的転帰 頭蓋顔面奇形 | ||
| 8 (4.0%) |
31041292 |
Double outlet right ventricle and aortopulmonary window in a neonate with Bohring-Opitz (Oberklaid-Danks) syndrome: First case report. Verma B, Abhinay A, Singh A, Kumar M. J Family Med Prim Care. 2019;8(3):1279-1281. |
| 発作 | ||
| 8 (4.0%) |
29681105 |
Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome. Kibe M, Ibara S, Inagaki H, Kato T, Kurahashi H, Ikeda T. Am J Med Genet A. 2018;176(5):1245-1248. |
| 両眼隔離 | ||
| ASXL1 | ||
| c|DUP|1934|G| | ||
| DNAコピー数多型 アミノ酸置換 ヒト リプレッサータンパク質 変異 女 対立遺伝子 新生児 知的障害 胎児循環遺残症候群 表現型 超音波検査 頭蓋縫合早期癒合症 | ||
| 8 (4.0%) |
29305346 (5983172) |
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P. Cold Spring Harb Mol Case Stud. 2018;4(3):. |
| 知的障害 | ||
| ASXL3 | ||
| p|SUB|R|1036|X rs1131691668 | ||
| ゲノムワイド関連解析 ナンセンスコドン ヒト 全エクソーム解析 同胞 女 症候群 発達障害 表現型 遺伝子関連解析 |
合計: 55
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000175 | 口蓋裂 | Very frequent (99-80%) |
| HP:0000243 | 三角頭蓋 | Very frequent (99-80%) |
| HP:0000252 | 小頭 | Very frequent (99-80%) |
| HP:0000278 | 下顎後退 | Very frequent (99-80%) |
| HP:0000293 | 大きな頬 | Very frequent (99-80%) |
| HP:0000294 | 低い前部毛髪線 | Very frequent (99-80%) |
| HP:0000369 | 耳介低位 | Very frequent (99-80%) |
| HP:0000431 | 幅広い鼻梁 | Very frequent (99-80%) |
| HP:0000444 | 凸の鼻梁 | Very frequent (99-80%) |
| HP:0000520 | 眼球突出 | Very frequent (99-80%) |
| HP:0000582 | 眼瞼裂斜上 | Very frequent (99-80%) |
| HP:0000998 | 多毛症 | Very frequent (99-80%) |
| HP:0001263 | 全般性発達遅滞 | Very frequent (99-80%) |
| HP:0001376 | 関節運動制限 | Very frequent (99-80%) |
| HP:0001508 | 成長障害 (成長不全) | Very frequent (99-80%) |
| HP:0001511 | 子宮内成長遅滞 | Very frequent (99-80%) |
| HP:0004422 | 両頭頂径狭小 | Very frequent (99-80%) |
| HP:0005487 | 目立つ前頭縫合隆起 | Very frequent (99-80%) |
| HP:0007413 | 額の火炎状母斑 | Very frequent (99-80%) |
| HP:0009465 | 指の尺側偏位 | Very frequent (99-80%) |
| HP:0009891 | 眼窩上縁未発達 | Very frequent (99-80%) |
| HP:0010864 | 知的障害, 重度 | Very frequent (99-80%) |
| HP:0011968 | 食餌摂取障害 | Very frequent (99-80%) |
| HP:0100490 | 屈指 | Very frequent (99-80%) |
| HP:0100874 | 分厚い毛髪 | Very frequent (99-80%) |
| HP:0000191 | 副口腔小帯 | Frequent (79-30%) |
| HP:0000204 | 上口唇裂 | Frequent (79-30%) |
| HP:0000316 | 両眼隔離 | Frequent (79-30%) |
| HP:0000486 | 斜視 | Frequent (79-30%) |
| HP:0000488 | 網膜症 | Frequent (79-30%) |
| HP:0000593 | 前房の異常 | Frequent (79-30%) |
| HP:0000664 | 連続眉毛 | Frequent (79-30%) |
| HP:0000774 | 狭い胸郭 | Frequent (79-30%) |
| HP:0000926 | 扁平脊椎 | Frequent (79-30%) |
| HP:0001250 | 発作 | Frequent (79-30%) |
| HP:0001522 | Death in infancy | Frequent (79-30%) |
| HP:0001732 | 膵の異常 | Frequent (79-30%) |
| HP:0002020 | 胃食道逆流 | Frequent (79-30%) |
| HP:0002079 | 脳梁低形成 | Frequent (79-30%) |
| HP:0002119 | 脳室拡大 | Frequent (79-30%) |
| HP:0002120 | 大脳皮質萎縮 | Frequent (79-30%) |
| HP:0002558 | 副甲状腺乳頭 | Frequent (79-30%) |
| HP:0002564 | 心および大血管奇形 | Frequent (79-30%) |
| HP:0002566 | 腸回転異常 | Frequent (79-30%) |
| HP:0003042 | 肘脱臼 | Frequent (79-30%) |
| HP:0006610 | 幅広い乳頭間距離 | Frequent (79-30%) |
| HP:0010306 | 短い胸郭 | Frequent (79-30%) |
| HP:0000023 | 鼠径ヘルニア | Occasional (29-5%) |
| HP:0000077 | 腎異常 | Occasional (29-5%) |
| HP:0000365 | 難聴 | Occasional (29-5%) |
| HP:0000545 | 近視 | Occasional (29-5%) |
| HP:0001305 | Dandy-Walker 奇形 | Occasional (29-5%) |
| HP:0001561 | 羊水過多 | Occasional (29-5%) |
| HP:0001773 | 短い足 | Occasional (29-5%) |
| HP:0001883 | 尖足 | Occasional (29-5%) |
合計: 14
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0000316 | 両眼隔離 | 3 |
| HP:0001508 | 成長障害 (成長不全) | 3 |
| HP:0001249 | 知的障害 | 2 |
| HP:0011968 | 食餌摂取障害 | 2 |
| HP:0000243 | 三角頭蓋 | 1 |
| HP:0000252 | 小頭 | 1 |
| HP:0000582 | 眼瞼裂斜上 | 1 |
| HP:0001052 | 火炎状母斑 | 1 |
| HP:0001250 | 発作 | 1 |
| HP:0001511 | 子宮内成長遅滞 | 1 |
| HP:0001525 | 重度の成長障害 (成長不全) | 1 |
| HP:0007413 | 額の火炎状母斑 | 1 |
| HP:0011604 | 大動脈肺動脈窓 | 1 |
| HP:0410030 | 唇裂 | 1 |