| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 11 (4.0%) |
23890587 |
Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation. Helander A, Stodberg T, Jaeken J, Matthijs G, Eriksson M, Eggertsen G. Mol Genet Metab. 2013;110(3):342-4. |
| 自閉症 | ||
| DOLK PMM2 | ||
| c|SUB|T|2|C;RS#:587777137 rs587777137 | ||
| アルコール基へのリン酸転移酵素 トランスフェリン ヒト 先天性グリコシル化異常症 同胞 変異 女 子供 幼児 男 遺伝子型 | ||
| 11 (4.0%) |
22649348 (3362223) |
Macular hypoplasia in congenital disorder of glycosylation type ia. Wang BZ, Siriwardana P, Taranath D. Case Rep Ophthalmol. 2012;3(1):142-4. |
| 黄斑低形成 | ||
| rs398123309 | ||
| 11 (4.0%) |
22374380 |
Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia. Rudaks LI, Andersen C, Khong TY, Kelly A, Fietz M, Barnett CP. Pediatr Cardiol. 2012;33(5):827-30. |
| 心筋症 | ||
| ヒト ミスセンス変異 先天性グリコシル化異常症 剖検 同胞 女 心エコー 心タンポナーデ 肥大型心筋症 致死的転帰 | ||
| 11 (4.0%) |
20638314 |
Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis? Leticee N, Bessieres-Grattagliano B, Dupre T, Vuillaumier-Barrot S, de Lonlay P, Razavi F, El Khartoufi N, Ville Y, Vekemans M, Bouvier R, Seta N, Attie-Bitach T. Mol Genet Metab. 2010;101(2-3):253-7. |
| 貧血 | ||
| PMM2 | ||
| rs80338701 | ||
| ヒト リソソーム蓄積症 先天性グリコシル化異常症 女 妊娠 胎児水腫 | ||
| 11 (4.0%) |
20398363 (2861021) |
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report. Al-Owain M, Mohamed S, Kaya N, Zagal A, Matthijs G, Jaeken J. Orphanet J Rare Dis. 2010;5:7. |
| 斜視 | ||
| ALG6 TF | ||
| c|SUB|A|482|G;RS#:201354339 p|SUB|Y|161|C;RS#:201354339 | ||
| グルコース転移酵素 ヒト 先天性グリコシル化異常症 変異 子供 拡張型心筋症 男 膜タンパク質 | ||
| 11 (4.0%) |
19757145 |
Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review. Footitt EJ, Karimova A, Burch M, Yayeh T, Dupre T, Vuillaumier-Barrot S, Chantret I, Moore SE, Seta N, Grunewald S. J Inherit Metab Dis. 2009;32 Suppl 1:S313-9. |
| 心筋症 | ||
| ヒト 先天性グリコシル化異常症 女 子供 心筋症 心臓補助装置 致死的転帰 血液凝固異常 | ||
| 11 (4.0%) |
19396570 |
Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency. Shanti B, Silink M, Bhattacharya K, Howard NJ, Carpenter K, Fietz M, Clayton P, Christodoulou J. J Inherit Metab Dis. 2009;32 Suppl 1:S241-51. |
| 甲状腺機能低下症 | ||
| rs190521996 rs398123309 rs532870929 rs80338702 | ||
| びまん性膵ラ氏島細胞増殖症 オリーブ橋小脳萎縮症 ヒト 先天性グリコシル化異常症 先天性高インスリン症 変異 多臓器不全 女 子供（未就学） 幼児 新生児 男 脳 鑑別診断 | ||
| 11 (4.0%) |
19168813 |
CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions. Jamroz E, Adamek D, Paprocka J, Adamowicz M, Marszal E, Wevers RA. J Child Neurol. 2009;24(1):13-8. |
| 運動失調 | ||
| PMM2 | ||
| rs768021123 rs786204436 | ||
| サイトメガロウイルス感染症 ヒト 先天性グリコシル化異常症 女 幼児 | ||
| 11 (4.0%) |
19165618 |
Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation. Thong MK, Fietz M, Nicholls C, Lee MH, Asma O. J Inherit Metab Dis. 2009;32 Suppl 1:S41-4. |
| 甲状腺機能低下症 | ||
| PMM2 | ||
| c|SUB|C|618|A c|SUB|T|422|A;RS#:28936415 p|SUB|F|206|L;RS#:750490877 p|SUB|F|206|S p|SUB|L|206|F;RS#:750490877 p|SUB|R|141|H;RS#:28936415 rs1460691341 | ||
| Asians Malaysia Molecular Sequence Data アミノ酸配列 アミノ酸配列相同性 エクソン ヒト ヘテロ接合体 ミスセンス変異 先天性グリコシル化異常症 変異 女 妊娠 幼児 新生児 男 致死的転帰 遺伝相談 | ||
| 11 (4.0%) |
18571450 |
Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. Truin G, Guillard M, Lefeber DJ, Sykut-Cegielska J, Adamowicz M, Hoppenreijs E, Sengers RC, Wevers RA, Morava E. Mol Genet Metab. 2008;94(4):481-4. |
| 腹水 | ||
| PMM2 TF | ||
| rs1258107584 rs1555448899 rs80338704 | ||
| トランスフェリン ヒト 先天性代謝異常 女 幼児 男 腹水 致死的転帰 |
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 |