| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (48.2%) |
10463356 |
Troyer syndrome: a combination of central brain abnormality and motor neuron disease? Auer-Grumbach M, Fazekas F, Radner H, Irmler A, Strasser-Fuchs S, Hartung HP. J Neurol. 1999;246(7):556-61. |
| 構音障害 小さい手 | ||
| ヒト 女 成人 手 症候群 磁気共鳴画像法 組織診 脳梁 運動ニューロン疾患 遺伝性痙性対麻痺 | ||
| 2 (36.7%) |
1261070 |
Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or "new" syndrome. Neuhauser G, Wiffler C, Opitz JM. Clin Genet. 1976;9(3):315-23. |
| 痙性両麻痺 流涎 | ||
| Ohio Religion ヒト 女 子供 対麻痺 成長障害 男 症候群 知的障害 筋ジストロフィー 筋痙縮 | ||
| 3 (17.5%) |
28875386 |
Novel SPG20 mutation in an extended family with Troyer syndrome. Bizzari S, Hamzeh AR, Nair P, Mohamed M, Saif F, Aithala G, Al-Ali MT, Bastaki F. Metab Brain Dis. 2017;32(6):2155-2159. |
| 痙性対不全麻痺 | ||
| SPART | ||
| c|SUB|G|1324|C p|SUB|A|442|P | ||
| タンパク質 ヒト 変異 女 子供 子供（未就学） 男 細胞周期タンパク質 遺伝性痙性対麻痺 | ||
| 3 (17.5%) |
28679690 (5495031) |
SPG20 mutation in three siblings with familial hereditary spastic paraplegia. Dardour L, Roelens F, Race V, Souche E, Holvoet M, Devriendt K. Cold Spring Harb Mol Case Stud. 2017;3(4):. |
| 知的障害 痙性 | ||
| SPART | ||
| c|SUB|C|1369|T;RS#:200373703 p|SUB|R|457|*;RS#:200373703 | ||
| エクソン タンパク質 ナンセンスコドン ヒト 同胞 変異 女 子供 男 知的障害 細胞周期タンパク質 若年成人 遺伝性痙性対麻痺 | ||
| 3 (17.5%) |
26003402 |
Recurrent null mutation in SPG20 leads to Troyer syndrome. Tawamie H, Wohlleber E, Uebe S, Schmal C, Nothen MM, Abou Jamra R. Mol Cell Probes. 2015;29(5):315-8. |
| 知的障害 痙性対麻痺 | ||
| SPART | ||
| c|DEL|1110|A c|DEL|364_365|TA rs775736341 | ||
| DNA変異解析 タンパク質 ヒト 女 子供 成人 男 疾患の遺伝的素因 細胞周期タンパク質 遺伝子欠失 遺伝性痙性対麻痺 | ||
| 6 (4.0%) |
21171093 |
Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families. Rainier S, Albers JW, Dyck PJ, Eldevik OP, Wilcock S, Richardson RJ, Fink JK. Muscle Nerve. 2011;43(1):19-25. |
| 低身長 | ||
| PNPLA6 | ||
| 80歳以上 DNA変異解析 カルボキシルエステル加水分解酵素 ヒト 中年 変異 女 成人 末梢神経系疾患 男 疾患の遺伝的素因 運動ニューロン疾患 遺伝子型 |
合計: 52
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000316 | 両眼隔離 | Frequent (79-30%) |
| HP:0000750 | 発語および言語発達遅延 | Frequent (79-30%) |
| HP:0000924 | 骨格の異常 | Frequent (79-30%) |
| HP:0001155 | 手の異常 | Frequent (79-30%) |
| HP:0001257 | 痙性 | Frequent (79-30%) |
| HP:0001260 | 構音障害 | Frequent (79-30%) |
| HP:0001263 | 全般性発達遅滞 | Frequent (79-30%) |
| HP:0001270 | 運動発達遅滞 | Frequent (79-30%) |
| HP:0001290 | 全身性筋緊張低下 | Frequent (79-30%) |
| HP:0001317 | 小脳の異常 | Frequent (79-30%) |
| HP:0001328 | 特異的学習障害 | Frequent (79-30%) |
| HP:0001347 | 反射亢進 | Frequent (79-30%) |
| HP:0001350 | 不明瞭言語 | Frequent (79-30%) |
| HP:0001382 | 関節過動 | Frequent (79-30%) |
| HP:0001510 | 成長遅滞 | Frequent (79-30%) |
| HP:0001760 | 足の異常 | Frequent (79-30%) |
| HP:0002015 | 嚥下障害 | Frequent (79-30%) |
| HP:0002019 | 便秘 | Frequent (79-30%) |
| HP:0002313 | 痙性対不全麻痺 | Frequent (79-30%) |
| HP:0002464 | 痙性構音障害 | Frequent (79-30%) |
| HP:0002495 | 振動覚障害 | Frequent (79-30%) |
| HP:0003202 | 筋萎縮 | Frequent (79-30%) |
| HP:0003484 | 上肢筋虚弱 | Frequent (79-30%) |
| HP:0003487 | Babinski サイン | Frequent (79-30%) |
| HP:0004322 | 低身長 | Frequent (79-30%) |
| HP:0005922 | 手形態異常 | Frequent (79-30%) |
| HP:0011094 | オーバーバイト | Frequent (79-30%) |
| HP:0012443 | 脳形態の異常 | Frequent (79-30%) |
| HP:0100518 | 排尿障害 | Frequent (79-30%) |
| HP:0100543 | 認知障害 | Frequent (79-30%) |
| HP:0000252 | 小頭 | Occasional (29-5%) |
| HP:0000286 | 内眼角贅皮 | Occasional (29-5%) |
| HP:0000369 | 耳介低位 | Occasional (29-5%) |
| HP:0000448 | 目立つ鼻 | Occasional (29-5%) |
| HP:0000494 | 眼瞼裂斜下 | Occasional (29-5%) |
| HP:0000709 | 精神病 | Occasional (29-5%) |
| HP:0000712 | 情動不安定 | Occasional (29-5%) |
| HP:0000738 | 幻覚 | Occasional (29-5%) |
| HP:0000739 | 不安 | Occasional (29-5%) |
| HP:0001172 | 母指の異常 | Occasional (29-5%) |
| HP:0001609 | 嗄声 | Occasional (29-5%) |
| HP:0001761 | 凹足 | Occasional (29-5%) |
| HP:0002064 | 痙性歩行 | Occasional (29-5%) |
| HP:0002360 | 睡眠障害 | Occasional (29-5%) |
| HP:0002857 | 外反膝 | Occasional (29-5%) |
| HP:0003693 | 遠位筋萎縮 | Occasional (29-5%) |
| HP:0005288 | 鼻孔の異常 | Occasional (29-5%) |
| HP:0011098 | 発語失行症 | Occasional (29-5%) |
| HP:0011448 | 足クローヌス | Occasional (29-5%) |
| HP:0025269 | Panic attack | Occasional (29-5%) |
| HP:0030084 | Clinodactyly | Occasional (29-5%) |
| HP:0000126 | 水腎症 | Very rare (4-1%) |
合計: 5
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0004322 | 低身長 | 2 |
| HP:0001260 | 構音障害 | 1 |
| HP:0001264 | 痙性両麻痺 | 1 |
| HP:0100543 | 認知障害 | 1 |
| HP:0200055 | 小さい手 | 1 |