| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (47.5%) |
29538102 |
Use of the Masquerade Flap in Ablepharon-Macrostomia Syndrome: A Case Report. Hollanders K, Casteels I, Vandelanotte S, Reyniers R, Segers K, Nevens T, Mombaerts I. Cornea. 2018;37(7):929-932. |
| 無眼瞼 屈指 | ||
| ヒト 巨口症 新生児 男 皮弁 眼奇形 眼科手術 角膜 | ||
| 2 (36.0%) |
30450715 |
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y, Kosaki K. Am J Med Genet A. 2018;176(12):2777-2780. |
| 両眼隔離 無眼瞼 | ||
| TWIST1 TWIST2 | ||
| c|SUB|C|351,117|G,E,D p|SUB|E|117|D | ||
| Twist関連タンパク質1 アミノ酸置換 スパイラル断層撮影 タンパク質ドメイン ヒト 対立遺伝子 新生児 核タンパク質 男 疾患の遺伝的素因 症候群 眼奇形 遺伝子型 遺伝子関連解析 頭蓋縫合早期癒合症 顔貌 | ||
| 2 (36.0%) |
23198177 (3504267) |
Clinical variant of ablepharon macrostomia syndrome. Larumbe J, Villalta P, Velez I. Case Rep Dermatol Med. 2011;2011:593045. |
| 顔の異常 無眼瞼 | ||
| 2 (36.0%) |
19760652 |
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. Haensel J, Kohlschmidt N, Pitz S, Keilmann A, Zenker M, Ullmann R, Haaf T, Bartsch O. Am J Med Genet A. 2009;149A(10):2236-40. |
| 伝音難聴 球状の鼻 無眼瞼 | ||
| rs869320750 | ||
| ヒト 多毛症 女 子供 巨口症 症候群 鑑別診断 | ||
| 2 (36.0%) |
3293678 |
A new feature of the ablepharon macrostomia syndrome: zygomatic arch absence. Jackson IT, Shaw KE, del Pinal Matorras F. Br J Plast Surg. 1988;41(4):410-6. |
| 性別不明の外性器 無眼瞼 | ||
| ヒト 子供 巨口症 男 症候群 | ||
| 6 (30.8%) |
9674915 |
Barber-Say Syndrome: report of a new case. Mazzanti L, Bergamaschi R, Neri I, Perri A, Patrizi A, Cacciari E, Forabosco A. Am J Med Genet. 1998;78(2):188-91. |
| 球状の鼻 外反(眼瞼) | ||
| rs1553565143 | ||
| ヒト 乳房 女 子供 症候群 精神運動障害 言語学習 言語発達障害 顔面 | ||
| 7 (29.4%) |
15103726 |
Ablepharon-macrostomia syndrome in a 46-year-old woman. Brancati F, Mingarelli R, Sarkozy A, Dallapiccola B. Am J Med Genet A. 2004;127A(1):96-8. |
| 過剰な皮膚 眉毛欠損 | ||
| rs1553565140 | ||
| ヒト 中年 先天性手変形 女 巨口症 症候群 眼奇形 顔貌 顔面 | ||
| 8 (27.8%) |
2036354 |
Ablepharon macrostomia syndrome. Price NJ, Pugh RE, Farndon PA, Willshaw HE. Br J Ophthalmol. 1991;75(5):317-9. |
| 幅広い口 | ||
| rs1553565140 | ||
| ヒト 巨口症 新生児 男 症候群 皮弁 視覚障害 | ||
| 9 (21.2%) |
21595001 |
Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome. Rohena L, Kuehn D, Marchegiani S, Higginson JD. Am J Med Genet A. 2011;155A(4):850-4. |
| 両眼隔離 屈指 | ||
| rs1553565140 | ||
| ヒト 優性遺伝子 女 巨口症 新生児 男 眼奇形 若年成人 表現型 超音波検査 | ||
| 10 (17.5%) |
4003491 |
Ablepharon macrostomia syndrome. Hornblass A, Reifler DM. Am J Ophthalmol. 1985;99(5):552-6. |
| 性別不明の外性器 腹壁ヘルニア | ||
| ヒト 女 巨口症 新生児 角膜 |
合計: 39
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000154 | 幅広い口 | Very frequent (99-80%) |
| HP:0000430 | 鼻翼未発達 | Very frequent (99-80%) |
| HP:0000561 | 睫毛欠損 | Very frequent (99-80%) |
| HP:0000750 | 発語および言語発達遅延 | Very frequent (99-80%) |
| HP:0001582 | 過剰な皮膚 | Very frequent (99-80%) |
| HP:0002213 | 細い毛髪 | Very frequent (99-80%) |
| HP:0002223 | 眉毛欠損 | Very frequent (99-80%) |
| HP:0008070 | 疎な毛髪 | Very frequent (99-80%) |
| HP:0008551 | 小耳 | Very frequent (99-80%) |
| HP:0010669 | 頬骨未発達 | Very frequent (99-80%) |
| HP:0011224 | 無眼瞼 | Very frequent (99-80%) |
| HP:0000055 | 女性外性器異常 | Frequent (79-30%) |
| HP:0000062 | 性別不明の外性器 | Frequent (79-30%) |
| HP:0000327 | 上顎低形成 | Frequent (79-30%) |
| HP:0000365 | 難聴 | Frequent (79-30%) |
| HP:0000463 | 上向きの鼻孔 | Frequent (79-30%) |
| HP:0000505 | 視力障害 | Frequent (79-30%) |
| HP:0000545 | 近視 | Frequent (79-30%) |
| HP:0000691 | 小歯 | Frequent (79-30%) |
| HP:0000958 | 乾いた皮膚 | Frequent (79-30%) |
| HP:0000963 | 薄い皮膚 | Frequent (79-30%) |
| HP:0001126 | 潜在眼球 | Frequent (79-30%) |
| HP:0001263 | 全般性発達遅滞 | Frequent (79-30%) |
| HP:0001537 | 臍ヘルニア | Frequent (79-30%) |
| HP:0003187 | 乳房低形成 | Frequent (79-30%) |
| HP:0006709 | 乳頭無形成/低形成 | Frequent (79-30%) |
| HP:0007392 | 過剰な皺の多い皮膚 | Frequent (79-30%) |
| HP:0007957 | 角膜混濁 | Frequent (79-30%) |
| HP:0008736 | 陰茎低形成 | Frequent (79-30%) |
| HP:0100490 | 屈指 | Frequent (79-30%) |
| HP:0000233 | 薄い唇紅部縁 | Occasional (29-5%) |
| HP:0000413 | 外耳道閉鎖 | Occasional (29-5%) |
| HP:0001000 | 皮膚色素の異常 | Occasional (29-5%) |
| HP:0001510 | 成長遅滞 | Occasional (29-5%) |
| HP:0001539 | 臍帯ヘルニア | Occasional (29-5%) |
| HP:0001770 | 合趾症 | Occasional (29-5%) |
| HP:0005280 | 落ちくぼんだ鼻梁 | Occasional (29-5%) |
| HP:0010720 | 異常な毛髪パターン | Occasional (29-5%) |
| HP:0200020 | 角膜びらん | Occasional (29-5%) |
合計: 9
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0001582 | 過剰な皮膚 | 3 |
| HP:0000062 | 性別不明の外性器 | 2 |
| HP:0011224 | 無眼瞼 | 2 |
| HP:0000154 | 幅広い口 | 1 |
| HP:0000316 | 両眼隔離 | 1 |
| HP:0000656 | 外反(眼瞼) | 1 |
| HP:0000963 | 薄い皮膚 | 1 |
| HP:0002561 | 乳頭欠損 | 1 |
| HP:0002933 | 腹壁ヘルニア | 1 |