Aicardi-Goutières syndrome

An inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.



患者の 徴候・症状 を入力


症例報告を絞り込む



合計: 0 （症例報告）
  


（表示件数）
対応する徴候・症状  遺伝子  変異  キーワード（MeSH）
順位
（類似度）		 PMID
(PMCID)
        

徴候・症状リスト（Orphanetデータベースから取得）

    合計: 72

HPO ID 徴候・症状 頻度
HP:0001257 痙性 Very frequent (99-80%)
HP:0001263 全般性発達遅滞 Very frequent (99-80%)
HP:0001276 筋緊張亢進 Very frequent (99-80%)
HP:0002132 孔脳症 Very frequent (99-80%)
HP:0002139 無嗅脳症 Very frequent (99-80%)
HP:0002187 知的障害, 最重度 Very frequent (99-80%)
HP:0007052 多巣性大脳白質異常 Very frequent (99-80%)
HP:0000252 小頭 Frequent (79-30%)
HP:0000625 眼瞼裂 Frequent (79-30%)
HP:0000737 被刺激性 Frequent (79-30%)
HP:0000958 乾いた皮膚 Frequent (79-30%)
HP:0001250 発作 Frequent (79-30%)
HP:0001332 ジストニア Frequent (79-30%)
HP:0001433 肝脾腫 Frequent (79-30%)
HP:0001955 不明熱 Frequent (79-30%)
HP:0002071 錐体外路運動機能の異常 Frequent (79-30%)
HP:0002079 脳梁低形成 Frequent (79-30%)
HP:0002119 脳室拡大 Frequent (79-30%)
HP:0002355 歩行困難 Frequent (79-30%)
HP:0002371 発語喪失 Frequent (79-30%)
HP:0002376 発達退行 Frequent (79-30%)
HP:0002415 ロイコジストロフィー Frequent (79-30%)
HP:0002514 大脳石灰化 Frequent (79-30%)
HP:0002910 肝トランスアミナーゼ上昇 Frequent (79-30%)
HP:0002960 自己免疫 Frequent (79-30%)
HP:0003683 大きな嘴鼻 Frequent (79-30%)
HP:0004322 低身長 Frequent (79-30%)
HP:0004374 片麻痺/片側不全麻痺 Frequent (79-30%)
HP:0007076 錐体外路筋硬直 Frequent (79-30%)
HP:0008936 体幹の筋緊張低下 Frequent (79-30%)
HP:0009704 慢性髄液細胞増多症 Frequent (79-30%)
HP:0009709 髄液インターフェロンα増加 Frequent (79-30%)
HP:0009710 凍瘡病変 Frequent (79-30%)
HP:0012444 脳萎縮 Frequent (79-30%)
HP:0030356 Increased serum interferon-gamma level Frequent (79-30%)
HP:0000054 小陰茎 Occasional (29-5%)
HP:0000369 耳介低位 Occasional (29-5%)
HP:0000496 眼運動の異常 Occasional (29-5%)
HP:0000501 緑内障 Occasional (29-5%)
HP:0000508 眼瞼下垂 Occasional (29-5%)
HP:0000639 眼振 Occasional (29-5%)
HP:0000819 糖尿病 Occasional (29-5%)
HP:0000821 甲状腺機能低下症 Occasional (29-5%)
HP:0000965 大理石皮膚 Occasional (29-5%)
HP:0001063 肢端チアノーゼ Occasional (29-5%)
HP:0001087 先天性緑内障 Occasional (29-5%)
HP:0001337 振戦 Occasional (29-5%)
HP:0001357 斜頭 Occasional (29-5%)
HP:0001369 関節炎 Occasional (29-5%)
HP:0001609 嗄声 Occasional (29-5%)
HP:0001640 心拡大 Occasional (29-5%)
HP:0002313 痙性対不全麻痺 Occasional (29-5%)
HP:0002315 頭痛 Occasional (29-5%)
HP:0002510 痙性四肢麻痺 Occasional (29-5%)
HP:0002650 側弯 Occasional (29-5%)
HP:0002828 多発性関節拘縮 Occasional (29-5%)
HP:0003552 筋硬直 Occasional (29-5%)
HP:0004809 新生児同種免疫性血小板減少 Occasional (29-5%)
HP:0006579 遷延性新生児黄疸 Occasional (29-5%)
HP:0007108 脱髄性末梢運動神経ニューロパチー Occasional (29-5%)
HP:0007256 錐体路運動機能の異常 Occasional (29-5%)
HP:0012490 脂肪織炎 Occasional (29-5%)
HP:0030880 Raynaud phenomenon Occasional (29-5%)
HP:0001639 肥大型心筋症 Very rare (4-1%)
HP:0004942 大動脈瘤 Very rare (4-1%)
HP:0004963 大動脈石灰化 Very rare (4-1%)
HP:0005550 慢性リンパ性白血病 Very rare (4-1%)
HP:0011834 もやもや現象 Very rare (4-1%)
HP:0030038 Enchondroma Very rare (4-1%)
HP:0040140 Degeneration of the striatum Very rare (4-1%)
HP:0100578 脂肪萎縮 Very rare (4-1%)
HP:0100614 筋炎 Very rare (4-1%)


徴候・症状リスト（症例報告から取得）

    合計: 0

HPO ID 徴候・症状 症例報告数


疾患原因遺伝子リスト（Orphanetデータベースから取得）

    合計: 7

Gene Symbol 遺伝子名 Entrez Gene ID
SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 25939
RNASEH2A ribonuclease H2 subunit A 10535
RNASEH2B ribonuclease H2 subunit B 79621
RNASEH2C ribonuclease H2 subunit C 84153
ADAR adenosine deaminase RNA specific 103
TREX1 three prime repair exonuclease 1 11277
IFIH1 interferon induced with helicase C domain 1 64135