| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (71.0%) |
21980822 |
A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis. Karaer K, Rosti RO, Torun D, Sanal HT, Bahce M, Guran S. Turk J Pediatr. 2011;53(3):346-51. |
| 長い人中 小顎 眼瞼裂斜上 骨端異形成 | ||
| ヒト 低身長症 女 子供（未就学） 脊椎疾患 鑑別診断 骨軟骨異形成症 | ||
| 2 (63.7%) |
25091507 |
A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia. Hufnagel SB, Weaver KN, Hufnagel RB, Bader PI, Schorry EK, Hopkin RJ. Am J Med Genet A. 2014;164A(10):2607-12. |
| 小顎 短指症候群 小肢症 | ||
| COL11A1 | ||
| XI型コラーゲン ヒト 変異 女 発達性骨疾患 近視 | ||
| 3 (60.5%) |
18950500 (2579916) |
Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report. Al Kaissi A, Ganger R, Klaushofer K, Grill F. Cases J. 2008;1(1):270. |
| 舌根沈下 小顎 | ||
| 4 (57.8%) |
28841907 (5574094) |
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature. Higuchi Y, Hasegawa K, Yamashita M, Tanaka H, Tsukahara H. J Med Case Rep. 2017;11(1):237. |
| 小顎 | ||
| COL11A1 COL11A2 COL2A1 | ||
| c|SUB|G|1142|A;RS#:765231668 p|SUB|G|381|D;RS#:765231668 | ||
| XI型コラーゲン ヒト 口蓋裂 変異 子供 子供（未就学） 小顎症 成長障害 男 白内障 結合組織病 網膜剥離 表現型 軟口蓋 鑑別診断 関節炎 頭蓋顔面奇形 骨軟骨異形成症 | ||
| 5 (32.2%) |
9188673 |
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. van Steensel MA, Buma P, de Waal Malefijt MC, van den Hoogen FH, Brunner HG. Am J Med Genet. 1997;70(3):315-23. |
| 骨端異形成 | ||
| COL11A1 COL11A2 | ||
| rs121912945 rs750006299 rs797044915 | ||
| ヒト ホモ接合体 変異 女 子供 子供（未就学） 成人 男 聴覚消失 電子顕微鏡 | ||
| 6 (27.8%) |
27858841 (5591089) |
Marshall syndrome in a young child, a reality: Case report. Trandafir LM, Chiriac MI, Diaconescu S, Ioniuc I, Miron I, Rusu D. Medicine (Baltimore). 2016;95(44):e5065. |
| 発熱 口内炎 | ||
| XI型コラーゲン ヒト 女 子供（未就学） 白内障 頭蓋顔面奇形 骨軟骨異形成症 | ||
| 7 (21.2%) |
9489375 |
[A case of Marshall syndrome with secondary glaucoma due to spontaneous rupture of the lens capsule]. Endo S, Hashimoto Y, Ishida N, Kusano Y, Ohkoshi K, Yamaguchi T. Nippon Ganka Gakkai Zasshi. 1998;102(1):75-9. |
| 両眼隔離 関節症 | ||
| ヒト 子供 急性疾患 水晶体亜脱臼 男 症候群 白内障 硝子体切除術 緑内障 自然破裂 顔貌 | ||
| 7 (21.2%) |
4014313 |
Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome. Miny P, Lenz W. Am J Med Genet. 1985;21(2):317-24. |
| 骨格異形成 | ||
| ヒト 劣性遺伝子 女 子供（未就学） 幼児 成人 男 症候群 発達性骨疾患 聴覚消失 表情 | ||
| 9 (4.0%) |
30650974 |
Marshall and stickler syndrome in one family. Tomikova D, Buanyova B, Krasnik V, Gerinec A. Cesk Slov Oftalmol. 0000;74(3):108-111. |
| 緑内障 | ||
| c|SUB|C|2710|T;RS#:121912882 p|SUB|R|904|C;RS#:121912882 rs121912882 | ||
| ヒト 女 幼児 男 結合組織病 網膜剥離 近視 関節炎 | ||
| 9 (4.0%) |
10889003 |
Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome. Griffith AJ, Gebarski SS, Shepard NT, Kileny PR. Arch Otolaryngol Head Neck Surg. 2000;126(7):891-4. |
| 白内障 | ||
| COL11A1 | ||
| RNAスプライシング X線コンピュータ断層撮影 ヒト 前庭疾患 変異 女 標準純音聴力検査 男 症候群 表現型 電気眼振検査 頭蓋顔面奇形 |
合計: 42
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000164 | 歯の異常 | Very frequent (99-80%) |
| HP:0000179 | 分厚い下口唇唇紅部 | Very frequent (99-80%) |
| HP:0000215 | 分厚い上口唇唇紅部 | Very frequent (99-80%) |
| HP:0000248 | 短頭 | Very frequent (99-80%) |
| HP:0000272 | 平坦な頬 | Very frequent (99-80%) |
| HP:0000316 | 両眼隔離 | Very frequent (99-80%) |
| HP:0000343 | 長い人中 | Very frequent (99-80%) |
| HP:0000347 | 小顎 | Very frequent (99-80%) |
| HP:0000407 | 感音難聴 | Very frequent (99-80%) |
| HP:0000431 | 幅広い鼻梁 | Very frequent (99-80%) |
| HP:0000463 | 上向きの鼻孔 | Very frequent (99-80%) |
| HP:0000518 | 白内障 | Very frequent (99-80%) |
| HP:0000545 | 近視 | Very frequent (99-80%) |
| HP:0002829 | 関節痛 | Very frequent (99-80%) |
| HP:0003196 | 短い鼻 | Very frequent (99-80%) |
| HP:0004322 | 低身長 | Very frequent (99-80%) |
| HP:0005280 | 落ちくぼんだ鼻梁 | Very frequent (99-80%) |
| HP:0010669 | 頬骨未発達 | Very frequent (99-80%) |
| HP:0012368 | 平坦な顔 | Very frequent (99-80%) |
| HP:0000175 | 口蓋裂 | Frequent (79-30%) |
| HP:0000327 | 上顎低形成 | Frequent (79-30%) |
| HP:0000501 | 緑内障 | Frequent (79-30%) |
| HP:0000505 | 視力障害 | Frequent (79-30%) |
| HP:0000520 | 眼球突出 | Frequent (79-30%) |
| HP:0000541 | 網膜剥離 | Frequent (79-30%) |
| HP:0000646 | 弱視 | Frequent (79-30%) |
| HP:0000655 | 硝子体網膜変性 | Frequent (79-30%) |
| HP:0000966 | 減汗症 | Frequent (79-30%) |
| HP:0001006 | 寡毛症 | Frequent (79-30%) |
| HP:0001083 | 異所性水晶体 | Frequent (79-30%) |
| HP:0002514 | 大脳石灰化 | Frequent (79-30%) |
| HP:0002684 | 分厚い頭蓋冠 | Frequent (79-30%) |
| HP:0002738 | 前頭洞低形成 | Frequent (79-30%) |
| HP:0002758 | 骨関節炎 | Frequent (79-30%) |
| HP:0002857 | 外反膝 | Frequent (79-30%) |
| HP:0004327 | 硝子体液の異常 | Frequent (79-30%) |
| HP:0000218 | 高口蓋 | Occasional (29-5%) |
| HP:0000486 | 斜視 | Occasional (29-5%) |
| HP:0000535 | 疎な眉毛 | Occasional (29-5%) |
| HP:0000639 | 眼振 | Occasional (29-5%) |
| HP:0000653 | 疎な睫毛 | Occasional (29-5%) |
| HP:0002007 | 前頭突出, 額突出 | Occasional (29-5%) |
合計: 12
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0000518 | 白内障 | 3 |
| HP:0000501 | 緑内障 | 2 |
| HP:0000545 | 近視 | 2 |
| HP:0002652 | 骨格異形成 | 2 |
| HP:0000316 | 両眼隔離 | 1 |
| HP:0000589 | コロボーマ | 1 |
| HP:0001945 | 発熱 | 1 |
| HP:0003040 | 関節症 | 1 |
| HP:0010280 | 口内炎 | 1 |
| HP:0011003 | 重度近視 | 1 |
| HP:0025439 | Pharyngitis | 1 |
| HP:0100719 | 水晶体コロボーマ | 1 |