| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 11 (35.3%) |
18813423 |
Townes-Brocks syndrome. A neonate with extended spectrum and thrombocytopenia. Bhat RY, Sen S. Saudi Med J. 2008;29(9):1337-9. |
| 顔面麻痺 | ||
| ヒト 新生児 男 血小板減少症 | ||
| 12 (31.0%) |
27073431 (4812390) |
Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. Lin FJ, Lu W, Gale D, Yao Y, Zou R, Bian F, Jiang GR. Exp Ther Med. 2016;11(4):1249-1252. |
| 外耳奇形 軸前性多指趾症 | ||
| SALL1 | ||
| c|SUB|C|874|T p|SUB|Q|292|X | ||
| 12 (31.0%) |
25336016 |
16q12 microdeletion syndrome in two Japanese boys. Morisada N, Sekine T, Ishimori S, Tsuda M, Adachi M, Nozu K, Nakanishi K, Tanaka R, Iijima K. Pediatr Int. 2014;56(5):e75-8. |
| 腎不全 多指趾症 | ||
| SALL1 | ||
| Asians ヒト 染色体異常 男 症候群 遺伝子欠失 | ||
| 12 (31.0%) |
18280297 |
Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature. Liang Y, Shen D, Cai W. J Pediatr Surg. 2008;43(2):391-3. |
| 軸前性多指趾症 | ||
| SALL1 | ||
| c|SUB|C|2574|T;RS#:1965024 g|SUB|G|3823|A;RS#:4614723 rs1965024 rs4614723 | ||
| DNA変異解析 Forms and Records Control ヒト 一塩基多型 先天性脚変形 変異 外耳 多指症 幼児 男 症候群 経過観察 遺伝暗号 鎖肛 | ||
| 12 (31.0%) |
17431915 |
Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome. Kosaki R, Fujimaru R, Samejima H, Yamada H, Izumi K, Iijima K, Kosaki K. Am J Med Genet A. 2007;143A(10):1087-90. |
| 前方位肛門 軸前性多指趾症 | ||
| SALL1 | ||
| c|SUB|T|1256|A;RS#:137853084 p|SUB|L|419|X;RS#:137853084 rs137853084 rs140827311 | ||
| DNA変異解析 ゴールデンハー症候群 ヒト ファミリー 同胞 外耳 女 子供（未就学） 点変異 表現型 | ||
| 12 (31.0%) |
8818947 |
An autosomal dominant syndrome of renal and anogenital malformations with syndactyly. Green AJ, Sandford RN, Davison BC. J Med Genet. 1996;33(7):594-6. |
| 骨盤腎 合指趾症 | ||
| rs63749972 | ||
| ヒト 優性遺伝子 先天性異常 合指症 女 幼児 染色体異常 生殖器 腎臓 骨盤 | ||
| 17 (27.8%) |
23716951 (3656532) |
A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome. Babu TA, Chandrasekaran V, Balachandran S. Indian J Hum Genet. 2012;18(3):366-8. |
| 単一正中上顎切歯 | ||
| 18 (27.8%) |
7640757 |
[Clinical heterogeneity of Townes-Brocks syndrome]. Parent P, Bensaid M, Le Guern H, Colin A, Broussine L, Chabarot A, Cozic A, Jehannin B, de Parscau L. Arch Pediatr. 1995;2(6):551-4. |
| Pierre-Robin シークェンス | ||
| ヒト ピエール・ロバン症候群 ファロー四徴症 先天性脚変形 外耳 新生児 男 症候群 直腸 食道閉鎖 | ||
| 19 (23.3%) |
17668723 |
Twenty-one-year-old male with congenital anomalies, obstructive uropathy and chronic renal failure: is this a case of Townes Brocks syndrome? Unuigbe EI, Azubike CA, Okaka EI, Osarenkhoe JO, Onuora VC. Niger J Clin Pract. 2007;10(1):91-4. |
| 側弯 | ||
| ヒト 尿道狭窄 慢性腎不全 成人 男 症候群 腎臓 鑑別診断 | ||
| 20 (4.0%) |
29110636 (5674755) |
Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation. Liberalesso PBN, Cordeiro ML, Karuta SCV, Koladicz KRJ, Nitsche A, Zeigelboim BS, Raskin S, Rauchman M. BMC Med Genet. 2017;18(1):125. |
| 外耳奇形 | ||
| SALL1 | ||
| Brazil ナンセンスコドン ヒト 先天性心疾患 先天性脚変形 子供（未就学） 気管 男 疾患の遺伝的素因 腎臓 表現型 遺伝子型 鎖肛 鑑別診断 食道 |
合計: 66
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000143 | 直腸膣瘻 | Very frequent (99-80%) |
| HP:0000384 | 耳介前皮膚肉柱 | Very frequent (99-80%) |
| HP:0001177 | 軸前性多指症 | Very frequent (99-80%) |
| HP:0001199 | 三指節母指 | Very frequent (99-80%) |
| HP:0002023 | 鎖肛 | Very frequent (99-80%) |
| HP:0004792 | 直腸会陰瘻 | Very frequent (99-80%) |
| HP:0008572 | 外耳奇形 | Very frequent (99-80%) |
| HP:0000028 | 停留精巣 | Frequent (79-30%) |
| HP:0000083 | 腎不全 | Frequent (79-30%) |
| HP:0000365 | 難聴 | Frequent (79-30%) |
| HP:0000396 | 耳輪の過剰な巻き込み | Frequent (79-30%) |
| HP:0001482 | 皮下結節 | Frequent (79-30%) |
| HP:0001545 | 前方位肛門 | Frequent (79-30%) |
| HP:0001760 | 足の異常 | Frequent (79-30%) |
| HP:0001763 | 扁平足 | Frequent (79-30%) |
| HP:0001863 | 弯趾 | Frequent (79-30%) |
| HP:0002019 | 便秘 | Frequent (79-30%) |
| HP:0004209 | 第5指弯指 | Frequent (79-30%) |
| HP:0008551 | 小耳 | Frequent (79-30%) |
| HP:0000047 | 尿道下裂 | Occasional (29-5%) |
| HP:0000048 | 二分陰嚢 | Occasional (29-5%) |
| HP:0000076 | 膀胱尿管逆流 | Occasional (29-5%) |
| HP:0000077 | 腎異常 | Occasional (29-5%) |
| HP:0000086 | 異所性腎 | Occasional (29-5%) |
| HP:0000089 | 腎低形成 | Occasional (29-5%) |
| HP:0000130 | 子宮異常 | Occasional (29-5%) |
| HP:0000142 | 膣異常 | Occasional (29-5%) |
| HP:0000154 | 幅広い口 | Occasional (29-5%) |
| HP:0000324 | 顔面非対称 | Occasional (29-5%) |
| HP:0000486 | 斜視 | Occasional (29-5%) |
| HP:0000504 | 視覚の異常 | Occasional (29-5%) |
| HP:0000518 | 白内障 | Occasional (29-5%) |
| HP:0000567 | 脈絡膜網膜コロボーマ | Occasional (29-5%) |
| HP:0000568 | 小眼球 | Occasional (29-5%) |
| HP:0000581 | 眼瞼裂狭小 | Occasional (29-5%) |
| HP:0000612 | コロボーマ | Occasional (29-5%) |
| HP:0000772 | 肋骨の異常 | Occasional (29-5%) |
| HP:0000821 | 甲状腺機能低下症 | Occasional (29-5%) |
| HP:0000823 | 思春期遅発 | Occasional (29-5%) |
| HP:0001140 | 眼球上デルモイド | Occasional (29-5%) |
| HP:0001249 | 知的障害 | Occasional (29-5%) |
| HP:0001274 | 脳梁無発生 | Occasional (29-5%) |
| HP:0001508 | 成長障害 (成長不全) | Occasional (29-5%) |
| HP:0001631 | 心房中隔欠損 | Occasional (29-5%) |
| HP:0001636 | Fallot 四徴症 | Occasional (29-5%) |
| HP:0001641 | 肺動脈弁の異常 | Occasional (29-5%) |
| HP:0001643 | 動脈管開存症 | Occasional (29-5%) |
| HP:0001671 | 心中隔 | Occasional (29-5%) |
| HP:0001770 | 合趾症 | Occasional (29-5%) |
| HP:0002308 | Arnold-Chiari 奇形 | Occasional (29-5%) |
| HP:0002564 | 心および大血管奇形 | Occasional (29-5%) |
| HP:0002607 | 遺糞症 | Occasional (29-5%) |
| HP:0003468 | 脊椎の異常 | Occasional (29-5%) |
| HP:0004322 | 低身長 | Occasional (29-5%) |
| HP:0005562 | 多発性腎嚢胞 | Occasional (29-5%) |
| HP:0006824 | 脳神経麻痺 | Occasional (29-5%) |
| HP:0008736 | 陰茎低形成 | Occasional (29-5%) |
| HP:0009465 | 指の尺側偏位 | Occasional (29-5%) |
| HP:0009912 | 耳珠の異常 | Occasional (29-5%) |
| HP:0009944 | 母指指骨の部分重複 | Occasional (29-5%) |
| HP:0010059 | 幅広い母趾趾骨 | Occasional (29-5%) |
| HP:0010331 | 第3趾無形成/低形成 | Occasional (29-5%) |
| HP:0010481 | 尿道弁 | Occasional (29-5%) |
| HP:0010760 | 指欠損 | Occasional (29-5%) |
| HP:0011304 | 幅広い母指 | Occasional (29-5%) |
| HP:0100559 | 下肢非対称 | Occasional (29-5%) |
合計: 11
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0000083 | 腎不全 | 1 |
| HP:0000365 | 難聴 | 1 |
| HP:0000568 | 小眼球 | 1 |
| HP:0001545 | 前方位肛門 | 1 |
| HP:0002015 | 嚥下障害 | 1 |
| HP:0002104 | 無呼吸 | 1 |
| HP:0005707 | 両側性三指節母指 | 1 |
| HP:0006315 | 単一正中上顎切歯 | 1 |
| HP:0008572 | 外耳奇形 | 1 |
| HP:0030676 | Satyr ear | 1 |
| HP:0100258 | 軸前性多指趾症 | 1 |