| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
22966035 |
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. Morava E, Vodopiutz J, Lefeber DJ, Janecke AR, Schmidt WM, Lechner S, Item CB, Sykut-Cegielska J, Adamowicz M, Wierzba J, Zhang ZH, Mihalek I, Stockler S, Bodamer OA, Lehle L, Wevers RA. Pediatrics. 2012;130(4):e1034-9. |
| 小頭 | ||
| ALG1 PMM2 | ||
| ヒト マンノシルトランスフェラーゼ 先天性グリコシル化異常症 変異 女 子供 子供（未就学） 幼児 男 致死的転帰 若年成人 表現型 遺伝マーカー | ||
| 1 (39.0%) |
12920791 |
[Congenital disorder of type Ia protein glycosylation: clinical, biochemical and molecular characteristics in 2 siblings with cerebellar hypoplasia]. Honzik T, Malonova E, Hansikova H, Rosipal R, Poupetova H, Martasek P, Zeman J. Cas Lek Cesk. 2003;142(5):276-9. |
| 小頭 | ||
| ARSA GUSB PMM2 SERPINC1 TF | ||
| c|SUB|C|357|A;RS#:80338701 c|SUB|C|IVS5+19|T c|SUB|G|422|A;RS#:563605311|28936415 c|SUB|T|IVS5+22|A | ||
| ヒト 先天性グリコシル化異常症 変異 女 子供 小脳 幼児 男 | ||
| 3 (35.4%) |
24739649 |
Congenital disorders of glycosylation with neonatal presentation. Resende C, Carvalho C, Alegria A, Oliveira D, Quelhas D, Bandeira A, Proenca E. BMJ Case Rep. 2014;2014:. |
| くも指 | ||
| PMM2 | ||
| c|SUB|G|193|T;RS#:104894527 c|SUB|T|470|C;RS#:190521996 p|SUB|D|65|Y;RS#:104894527 p|SUB|F|157|S;RS#:190521996 rs190521996 | ||
| ヒト 先天性グリコシル化異常症 変異 小脳 心エコー 新生児 男 発達障害 磁気共鳴分光法 肥大型心筋症 | ||
| 4 (23.3%) |
17639595 |
Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia). Krasnewich D, O'Brien K, Sparks S. Am J Med Genet C Semin Med Genet. 2007;145C(3):302-6. |
| 性腺機能低下症 骨減少症 後側弯 | ||
| ヒト 先天性グリコシル化異常症 女 子供 子供（未就学） 成人 男 | ||
| 5 (21.2%) |
19176971 |
Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a. Malhotra A, Pateman A, Chalmers R, Coman D, Menahem S. Fetal Diagn Ther. 2009;25(1):54-7. |
| 心外膜滲出液 多発性骨格奇形 | ||
| ヒト 先天性代謝異常 先天性心疾患 先天性異常 出生前超音波検査 新生児 男 胎児 | ||
| 5 (21.2%) |
16423609 |
Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA. Schade van Westrum SM, Nederkoorn PJ, Schuurman PR, Vulsma T, Duran M, Poll-The BT. J Pediatr. 2006;148(1):115-7. |
| 脊髄圧迫 骨格異形成 | ||
| ヒト 不全麻痺 先天性グリコシル化異常症 外科的減圧術 幼児 男 発達障害 脊髄疾患 | ||
| 7 (17.5%) |
28807751 |
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect. Vicario M, Cali T, Cieri D, Vallese F, Bortolotto R, Lopreiato R, Zonta F, Nardella M, Micalizzi A, Lefeber DJ, Valente EM, Bertini E, Zanotti G, Zanni G, Brini M, Carafoli E. Biochim Biophys Acta Mol Basis Dis. 2017;1863(12):3303-3312. |
| 眼振 筋緊張低下 | ||
| ATP2B3 PMM2 | ||
| p|SUB|G|214|S p|SUB|G|733|R p|SUB|R|123|Q;RS#:141498002 rs1555453238 | ||
| HeLa細胞 ヒト ミスセンス変異 先天性グリコシル化異常症 子供（未就学） 男 細胞膜カルシウム輸送ATPアーゼ 脳 運動失調 | ||
| 7 (17.5%) |
27343064 (4919849) |
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity. Sabry S, Vuillaumier-Barrot S, Mintet E, Fasseu M, Valayannopoulos V, Heron D, Dorison N, Mignot C, Seta N, Chantret I, Dupre T, Moore SE. Orphanet J Rare Dis. 2016;11(1):84. |
| 停留精巣 筋緊張亢進 | ||
| DHDDS PMM2 | ||
| p|SUB|F|304|S rs147394623 rs1553121545 rs764831063 | ||
| HepG2細胞 アルキル基転移酵素 エクソン オリゴ糖 ドリコール ヒト 低分子干渉RNA 先天性グリコシル化異常症 変異 多糖類 新生児 男 皮膚 糖タンパク質 薄層クロマトグラフィー | ||
| 7 (17.5%) |
22012410 |
Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia). Casado M, O'Callaghan MM, Montero R, Perez-Cerda C, Perez B, Briones P, Quintana E, Muchart J, Aracil A, Pineda M, Artuch R. Cerebellum. 2012;11(2):557-63. |
| 斜視 リポジストロフィー | ||
| PMM2 TF | ||
| c|SUB|G|368|A;RS#:141498002 c|SUB|G|722|C;RS#:80338709 c|SUB|T|470|C;RS#:190521996 p|SUB|C|241|S;RS#:80338709 p|SUB|F|157|S;RS#:190521996 p|SUB|R|123|Q;RS#:141498002 rs190521996 rs80338709 | ||
| DNA変異解析 Image Processing, Computer-Assisted デオキシリボ核酸 トランスフェリン ヒト リポジストロフィー 先天性グリコシル化異常症 女 小脳 幼児 発達障害 磁気共鳴画像法 神経学的検査 神経性歩行障害 等電点電気泳動 線維芽細胞 脳 表現型 | ||
| 7 (17.5%) |
15714316 |
Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. Aronica E, van Kempen AA, van der Heide M, Poll-The BT, van Slooten HJ, Troost D, Rozemuller-Kwakkel JM. Acta Neuropathol. 2005;109(4):433-42. |
| 筋緊張低下 | ||
| PMM2 | ||
| p|SUB|T|237|R;RS#:80338708 p|SUB|V|231|M;RS#:80338707 rs80338707 rs80338708 | ||
| DNA変異解析 カルビンディン ニューロン ヒト ビメンチン 先天性グリコシル化異常症 免疫組織化学 変異 小脳 新生児 男 神経膠細胞 透過型電子顕微鏡 |
合計: 86
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000218 | 高口蓋 | Very frequent (99-80%) |
| HP:0000486 | 斜視 | Very frequent (99-80%) |
| HP:0000582 | 眼瞼裂斜上 | Very frequent (99-80%) |
| HP:0000154 | 幅広い口 | Frequent (79-30%) |
| HP:0000219 | 薄い上口唇唇紅部 | Frequent (79-30%) |
| HP:0000276 | 長い顔 | Frequent (79-30%) |
| HP:0000278 | 下顎後退 | Frequent (79-30%) |
| HP:0000286 | 内眼角贅皮 | Frequent (79-30%) |
| HP:0000303 | 下顎突出 | Frequent (79-30%) |
| HP:0000316 | 両眼隔離 | Frequent (79-30%) |
| HP:0000343 | 長い人中 | Frequent (79-30%) |
| HP:0000448 | 目立つ鼻 | Frequent (79-30%) |
| HP:0000463 | 上向きの鼻孔 | Frequent (79-30%) |
| HP:0000565 | 内斜視 | Frequent (79-30%) |
| HP:0000750 | 発語および言語発達遅延 | Frequent (79-30%) |
| HP:0000938 | 骨減少症 | Frequent (79-30%) |
| HP:0000939 | 骨粗鬆症 | Frequent (79-30%) |
| HP:0001250 | 発作 | Frequent (79-30%) |
| HP:0001263 | 全般性発達遅滞 | Frequent (79-30%) |
| HP:0001265 | 反射低下 | Frequent (79-30%) |
| HP:0001321 | 小脳低形成 | Frequent (79-30%) |
| HP:0001388 | 関節指間 | Frequent (79-30%) |
| HP:0001763 | 扁平足 | Frequent (79-30%) |
| HP:0001999 | 異常な顔の形 | Frequent (79-30%) |
| HP:0002013 | 嘔吐 | Frequent (79-30%) |
| HP:0002751 | 後側弯 | Frequent (79-30%) |
| HP:0003186 | 逆位乳頭 | Frequent (79-30%) |
| HP:0007552 | 異常な皮下脂肪組織分布 | Frequent (79-30%) |
| HP:0008936 | 体幹の筋緊張低下 | Frequent (79-30%) |
| HP:0009125 | リポジストロフィー | Frequent (79-30%) |
| HP:0011220 | 目立つ額 | Frequent (79-30%) |
| HP:0011968 | 食餌摂取障害 | Frequent (79-30%) |
| HP:0012448 | 髄鞘形成遅延 | Frequent (79-30%) |
| HP:0100807 | 長い指 | Frequent (79-30%) |
| HP:0000044 | 低ゴナドトロピン性性腺機能低下症 | Occasional (29-5%) |
| HP:0000091 | 腎尿細管異常 | Occasional (29-5%) |
| HP:0000093 | 蛋白尿 | Occasional (29-5%) |
| HP:0000100 | ネフローゼ症候群 | Occasional (29-5%) |
| HP:0000377 | 耳介の異常 | Occasional (29-5%) |
| HP:0000400 | 大耳 | Occasional (29-5%) |
| HP:0000426 | 目立つ鼻梁 | Occasional (29-5%) |
| HP:0000510 | 色素性網膜炎 | Occasional (29-5%) |
| HP:0000518 | 白内障 | Occasional (29-5%) |
| HP:0000545 | 近視 | Occasional (29-5%) |
| HP:0000842 | 高インスリン血症 | Occasional (29-5%) |
| HP:0000845 | 成長ホルモン過剰症 | Occasional (29-5%) |
| HP:0000855 | インスリン抵抗性 | Occasional (29-5%) |
| HP:0000870 | プロラクチン過剰症 | Occasional (29-5%) |
| HP:0001249 | 知的障害 | Occasional (29-5%) |
| HP:0001251 | 運動失調 | Occasional (29-5%) |
| HP:0001320 | 小脳虫部低形成 | Occasional (29-5%) |
| HP:0001395 | 肝線維症 | Occasional (29-5%) |
| HP:0001508 | 成長障害 (成長不全) | Occasional (29-5%) |
| HP:0001698 | 心外膜滲出液 | Occasional (29-5%) |
| HP:0001929 | 第 XI 因子活性の減少 | Occasional (29-5%) |
| HP:0001945 | 発熱 | Occasional (29-5%) |
| HP:0001976 | アンチトロンビン III 活性の減少 | Occasional (29-5%) |
| HP:0002098 | 呼吸窮迫 | Occasional (29-5%) |
| HP:0002280 | 大槽拡大 | Occasional (29-5%) |
| HP:0002828 | 多発性関節拘縮 | Occasional (29-5%) |
| HP:0002910 | 肝トランスアミナーゼ上昇 | Occasional (29-5%) |
| HP:0002925 | 甲状腺刺激ホルモン過剰症 | Occasional (29-5%) |
| HP:0003073 | 低アルブミン血症 | Occasional (29-5%) |
| HP:0005562 | 多発性腎嚢胞 | Occasional (29-5%) |
| HP:0008734 | 精巣サイズ減少 | Occasional (29-5%) |
| HP:0009830 | 末梢神経ニューロパチー | Occasional (29-5%) |
| HP:0010463 | 卵巣無形成 | Occasional (29-5%) |
| HP:0011443 | 協調運動の異常 | Occasional (29-5%) |
| HP:0011842 | 骨格形態の異常 | Occasional (29-5%) |
| HP:0011858 | 第 IX 因子活性の減少 | Occasional (29-5%) |
| HP:0011951 | 誤嚥性肺炎 | Occasional (29-5%) |
| HP:0012509 | thyroxin-binding globulin 減少 | Occasional (29-5%) |
| HP:0012882 | 大陰唇肥大 | Occasional (29-5%) |
| HP:0030146 | Abnormal liver parenchyma morphology | Occasional (29-5%) |
| HP:0030609 | Photoreceptor layer loss on macular OCT | Occasional (29-5%) |
| HP:0000926 | 扁平脊椎 | Very rare (4-1%) |
| HP:0001004 | リンパ性浮腫 | Very rare (4-1%) |
| HP:0001305 | Dandy-Walker 奇形 | Very rare (4-1%) |
| HP:0001639 | 肥大型心筋症 | Very rare (4-1%) |
| HP:0001681 | 狭心症 | Very rare (4-1%) |
| HP:0001701 | 心外膜炎 | Very rare (4-1%) |
| HP:0002170 | 頭蓋内出血 | Very rare (4-1%) |
| HP:0002625 | 深部静脈血栓症 | Very rare (4-1%) |
| HP:0012050 | 全身性浮腫 | Very rare (4-1%) |
| HP:0031404 | Impaired antigen-specific response | Very rare (4-1%) |
| HP:0040238 | Impaired neutrophil chemotaxis | Very rare (4-1%) |
合計: 25
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0001272 | 小脳萎縮 | 2 |
| HP:0002401 | 卒中様エピソード | 2 |
| HP:0000486 | 斜視 | 1 |
| HP:0000546 | 網膜変性 | 1 |
| HP:0000639 | 眼振 | 1 |
| HP:0001104 | 黄斑低形成 | 1 |
| HP:0001250 | 発作 | 1 |
| HP:0001251 | 運動失調 | 1 |
| HP:0001269 | 片側不全麻痺 | 1 |
| HP:0001271 | ポリニューロパチー | 1 |
| HP:0001297 | 卒中 | 1 |
| HP:0001321 | 小脳低形成 | 1 |
| HP:0001337 | 振戦 | 1 |
| HP:0001508 | 成長障害 (成長不全) | 1 |
| HP:0001873 | 血小板減少 | 1 |
| HP:0002170 | 頭蓋内出血 | 1 |
| HP:0002186 | 失行症 | 1 |
| HP:0002625 | 深部静脈血栓症 | 1 |
| HP:0002652 | 骨格異形成 | 1 |
| HP:0003186 | 逆位乳頭 | 1 |
| HP:0012758 | 神経発生遅延 | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0025402 | Square-wave jerks | 1 |
| HP:0025533 | Peau d'orange | 1 |
| HP:0031931 | Ocular flutter | 1 |