| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (47.0%) |
9098491 |
Elejalde syndrome: a case report. Thornton CM, Stewart F. Am J Med Genet. 1997;69(4):406-8. |
| 短い頸部 軸後性多指趾症 | ||
| ヒト 女 新生児 症候群 致死的転帰 | ||
| 2 (31.0%) |
8055141 |
An 18 week fetus with Elejalde syndrome (acrocephalopolydactylyous dysplasia). Nevin NC, Herron B, Armstrong MJ. Clin Dysmorphol. 1994;3(2):180-4. |
| 軸後性多指趾症 | ||
| ヒト 先天性脚変形 手 浮腫 男 症候群 結合組織 胎児 腎臓 頭蓋縫合早期癒合症 | ||
| 3 (4.0%) |
27416089 |
Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia. Galve J, Martin-Santiago A, Clavero C, Saus C, Alfaro-Arenas R, Perez-Granero A, Balliu PR, Ferrando J. Cutis. 2016;97(6):E1-5. |
| 甲状腺機能低下症 | ||
| ヒト 低蛋白血症 先天性甲状腺機能低下症 幼児 染色体異常 毛髪疾患 無ガンマグロブリン血症 男 胎児水腫 自然寛解 | ||
| 3 (4.0%) |
26622160 (4639960) |
Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings. Raghuveer C, Murthy SC, Mithuna MN, Suresh T. Int J Trichology. 2015;7(3):133-5. |
| 反復性呼吸器感染症 | ||
| 3 (4.0%) |
25780981 |
Elejalde syndrome (ES). Mohammadzadeh Shanehsaz S, Rezazadeh A, Dandashli A. Dermatol Online J. 2015;21(3):. |
| 発作 | ||
| てんかん発作 ヒト 同胞 女 子供 毛 皮膚 神経皮膚症候群 色素異常症 鑑別診断 | ||
| 3 (4.0%) |
23180914 (3500078) |
Silvery grey hair: clue to diagnose immunodeficiency. Sahana M, Sacchidanand S, Hiremagalore R, Asha G. Int J Trichology. 2012;4(2):83-5. |
| 免疫不全 | ||
| 3 (4.0%) |
22711375 |
Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients. Cagdas D, Ozgur TT, Asal GT, Tezcan I, Metin A, Lambert N, de Saint Basile G, Sanal O. Eur J Pediatr. 2012;171(10):1527-31. |
| 眼振 | ||
| GTP結合タンパク質Rab GTP結合タンパク質Rab27 まだら症 ヒト ミオシンV ミオシン重鎖 女 子供 子供（未就学） 幼児 情報伝達アダプタータンパク質 男 病状悪化 色素異常症 | ||
| 3 (4.0%) |
22413886 |
Sibs with acrocephalopolydactylous dysplasia (Elejalde syndrome) in a non-consanguineous family. Onyeama CO, Lotke M, Vickers D, Harper T. Fetal Pediatr Pathol. 2012;31(3):140-4. |
| 停留精巣 | ||
| ヒト 同胞 新生児 男 神経皮膚症候群 色素異常症 | ||
| 3 (4.0%) |
12522785 |
Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans. Aksu G, Kutukculer N, Genel F, Vergin C, Omowaire B. Am J Med Genet A. 2003;116A(4):329-33. |
| 肝脾腫 | ||
| RAB27A | ||
| c|DEL|51|CT p|SUB|S|18|X | ||
| GTP結合タンパク質Rab GTP結合タンパク質Rab27 ヒト 免疫不全症候群 女 子供 症候群 肝腫大 脾腫 表現型 |
合計: 19
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000153 | 口の異常 | Very frequent (99-80%) |
| HP:0000234 | 頭部の異常 | Very frequent (99-80%) |
| HP:0000263 | 塔状頭 | Very frequent (99-80%) |
| HP:0000286 | 内眼角贅皮 | Very frequent (99-80%) |
| HP:0000316 | 両眼隔離 | Very frequent (99-80%) |
| HP:0000457 | 落ちくぼんだ鼻梁 | Very frequent (99-80%) |
| HP:0000470 | 短い頸部 | Very frequent (99-80%) |
| HP:0000476 | 水滑性嚢腫 | Very frequent (99-80%) |
| HP:0001156 | 短指症候群 | Very frequent (99-80%) |
| HP:0001433 | 肝脾腫 | Very frequent (99-80%) |
| HP:0001538 | 腹部突出 | Very frequent (99-80%) |
| HP:0002816 | 反張膝 | Very frequent (99-80%) |
| HP:0003026 | 短い長管骨 | Very frequent (99-80%) |
| HP:0003196 | 短い鼻 | Very frequent (99-80%) |
| HP:0005257 | 胸郭低形成 | Very frequent (99-80%) |
| HP:0005458 | 早発性泉門閉鎖 | Very frequent (99-80%) |
| HP:0008551 | 小耳 | Very frequent (99-80%) |
| HP:0009826 | 四肢成長不全 | Very frequent (99-80%) |
| HP:0012210 | 腎形態異常 | Very frequent (99-80%) |
合計: 10
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0100259 | 軸後性多指趾症 | 2 |
| HP:0000470 | 短い頸部 | 1 |
| HP:0000639 | 眼振 | 1 |
| HP:0000651 | 複視 | 1 |
| HP:0001250 | 発作 | 1 |
| HP:0001582 | 過剰な皮膚 | 1 |
| HP:0002721 | 免疫不全 | 1 |
| HP:0007443 | 部分白皮症 | 1 |
| HP:0012156 | 血液貪食症 | 1 |
| HP:0012758 | 神経発生遅延 | 1 |
合計: 0
| Gene Symbol | 遺伝子名 | Entrez Gene ID |
|---|