| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (21.2%) |
29444731 |
Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation. Arroyave J, Carretero JM, Gruosso D. Cardiol Young. 2018;28(5):765-767. |
| 骨関節炎 | ||
| DNA変異解析 Smad3タンパク質 シネ磁気共鳴画像 デオキシリボ核酸 ヒト 変異 大動脈 子供 心エコー 男 胸部大動脈瘤 表現型 解離性大動脈瘤 | ||
| 1 (21.2%) |
26221609 (4499615) |
A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome. Zhang W, Zhou M, Liu C, Liu C, Qiao T, Huang D, Ran F, Wang W, Liu C, Liu Z. Biomed Res Int. 2015;2015:968135. |
| 骨関節炎 | ||
| SMAD3 | ||
| c|SUB|G|266|A p|SUB|C|89|Y | ||
| China Smad3タンパク質 ヒト 動脈瘤 変異 遺伝子関連解析 | ||
| 1 (21.2%) |
23693005 |
[Patients with aneurysms and osteoarthritis: Marfan syndrome ruled out, so what is it?]. van der Linde D, van de Laar I, Moelker A, Wessels MW, Bertoli-Avella AM, Roos-Hesselink JW. Ned Tijdschr Geneeskd. 2013;157(21):A5588. |
| 僧帽弁逸脱 骨関節炎 | ||
| SMAD3 | ||
| Smad3タンパク質 ヒト マルファン症候群 中年 動脈瘤 変異 女 循環器疾患 成人 男 疾患の遺伝的素因 症候群 鑑別診断 | ||
| 1 (21.2%) |
23272854 |
Multiple aneurysms in a patient with aneurysms-osteoarthritis syndrome. Martens T, Van Herzeele I, De Ryck F, Renard M, De Paepe A, Francois K, Vermassen F, De Backer J. Ann Thorac Surg. 2013;95(1):332-5. |
| 骨関節炎 | ||
| SMAD3 | ||
| Smad3タンパク質 デオキシリボ核酸 ヒト 変異 成人 核磁気共鳴血管撮影 疾患の遺伝的素因 病状悪化 症候群 経過観察 胸部大動脈瘤 腸骨動脈瘤 鑑別診断 | ||
| 5 (4.0%) |
27986426 |
Repeated Loss of Consciousness in a Young Woman: A Suspicious SMAD3 Mutation Underlying Spontaneous Coronary Artery Dissection. Garcia-Bermudez M, Moustafa AH, Barros-Membrilla A, Tizon-Marcos H. Can J Cardiol. 2017;33(2):292.e1-292.e3. |
| 自然冠動脈解離 | ||
| SMAD3 | ||
| DNA変異解析 Smad3タンパク質 デオキシリボ核酸 ヒト 介入的超音波検査 冠血管異常 変異 意識不明 成人 血管病 |
合計: 51
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0001763 | 扁平足 | Very frequent (99-80%) |
| HP:0002617 | 動脈瘤 | Very frequent (99-80%) |
| HP:0011645 | Valsalva 洞動脈瘤 | Very frequent (99-80%) |
| HP:0000023 | 鼠径ヘルニア | Frequent (79-30%) |
| HP:0000139 | 子宮脱 | Frequent (79-30%) |
| HP:0000193 | 二分した口蓋垂 | Frequent (79-30%) |
| HP:0000218 | 高口蓋 | Frequent (79-30%) |
| HP:0000272 | 平坦な頬 | Frequent (79-30%) |
| HP:0000276 | 長い顔 | Frequent (79-30%) |
| HP:0000316 | 両眼隔離 | Frequent (79-30%) |
| HP:0000348 | 高い額 | Frequent (79-30%) |
| HP:0000689 | 不正咬合 | Frequent (79-30%) |
| HP:0000978 | 出血傾向 | Frequent (79-30%) |
| HP:0000987 | 非典型的皮膚瘢痕 | Frequent (79-30%) |
| HP:0001065 | 伸展線 | Frequent (79-30%) |
| HP:0001166 | くも指 | Frequent (79-30%) |
| HP:0001537 | 臍ヘルニア | Frequent (79-30%) |
| HP:0001653 | 僧帽弁逆流 | Frequent (79-30%) |
| HP:0001659 | 大動脈逆流 | Frequent (79-30%) |
| HP:0002076 | 偏頭痛 | Frequent (79-30%) |
| HP:0002315 | 頭痛 | Frequent (79-30%) |
| HP:0002647 | 大動脈解離 | Frequent (79-30%) |
| HP:0002650 | 側弯 | Frequent (79-30%) |
| HP:0002758 | 骨関節炎 | Frequent (79-30%) |
| HP:0003179 | 寛骨臼突出 | Frequent (79-30%) |
| HP:0004268 | 手の小関節骨関節炎 | Frequent (79-30%) |
| HP:0004944 | 大脳動脈瘤 | Frequent (79-30%) |
| HP:0005086 | 膝骨関節炎 | Frequent (79-30%) |
| HP:0005116 | 動脈蛇行 | Frequent (79-30%) |
| HP:0005294 | 動脈解離 | Frequent (79-30%) |
| HP:0012432 | 慢性疲労 | Frequent (79-30%) |
| HP:0025487 | Abnormality of bladder morphology | Frequent (79-30%) |
| HP:0000278 | 下顎後退 | Occasional (29-5%) |
| HP:0000767 | 漏斗胸 | Occasional (29-5%) |
| HP:0000768 | はと胸 | Occasional (29-5%) |
| HP:0001388 | 関節指間 | Occasional (29-5%) |
| HP:0001519 | 不均衡型高身長 | Occasional (29-5%) |
| HP:0001627 | 心形態の異常 | Occasional (29-5%) |
| HP:0001642 | 肺動脈狭窄 | Occasional (29-5%) |
| HP:0001712 | 左室肥大 | Occasional (29-5%) |
| HP:0003302 | 脊椎すべり症 | Occasional (29-5%) |
| HP:0004953 | 腹部大動脈瘤 | Occasional (29-5%) |
| HP:0005110 | 心房細動 | Occasional (29-5%) |
| HP:0008419 | 椎間板変性 | Occasional (29-5%) |
| HP:0010886 | 離断性骨軟骨症 | Occasional (29-5%) |
| HP:0100490 | 屈指 | Occasional (29-5%) |
| HP:0100775 | 硬膜拡張 | Occasional (29-5%) |
| HP:0000175 | 口蓋裂 | Very rare (4-1%) |
| HP:0000939 | 骨粗鬆症 | Very rare (4-1%) |
| HP:0001643 | 動脈管開存症 | Very rare (4-1%) |
| HP:0001363 | Craniosynostosis | Excluded (0%) |
合計: 2
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0002758 | 骨関節炎 | 3 |
| HP:0012727 | 胸部大動脈瘤 | 2 |