Neurogenic arthrogryposis multiplex congenita

Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.



患者の 徴候症状 を入力


症例報告を絞り込む



合計: 1 (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)
1
(4.0%)
8677028
Arthrogryposis multiplex congenita and bilateral parietal polymicrogyria in association with the intrauterine death of a twin.
Baker EM, Khorasgani MG, Gardner-Medwin D, Gholkar A, Griffiths PD.
Neuropediatrics. 1996;27(1):54-6.
発作
Age of Onset X線コンピュータ断層撮影 てんかん発作 ヒト 分離腫 子供 磁気共鳴画像法 細胞運動 胎児死亡 関節拘縮症 頭頂葉
        

徴候・症状リスト(Orphanetデータベースから取得)

    合計: 23

HPO ID 徴候・症状 頻度
HP:0001387 関節拘縮 Very frequent (99-80%)
HP:0001562 羊水過少 Very frequent (99-80%)
HP:0002592 胃潰瘍 Very frequent (99-80%)
HP:0002648 頭蓋冠形態異常 Very frequent (99-80%)
HP:0002814 下肢の異常 Very frequent (99-80%)
HP:0002817 上肢の異常 Very frequent (99-80%)
HP:0002983 小肢症 Very frequent (99-80%)
HP:0003043 肩の異常 Very frequent (99-80%)
HP:0003202 筋萎縮 Very frequent (99-80%)
HP:0009800 母体糖尿病 Very frequent (99-80%)
HP:0011100 腸閉鎖 Very frequent (99-80%)
HP:0100016 腸間膜の異常 Very frequent (99-80%)
HP:0100490 屈指 Very frequent (99-80%)
HP:0003272 寛骨の異常 Frequent (79-30%)
HP:0006501 橈骨無形成/低形成 Frequent (79-30%)
HP:0010781 皮膚小孔 Frequent (79-30%)
HP:0000311 丸い顔 Occasional (29-5%)
HP:0000324 顔面非対称 Occasional (29-5%)
HP:0000347 小顎 Occasional (29-5%)
HP:0003196 短い鼻 Occasional (29-5%)
HP:0004374 片麻痺/片側不全麻痺 Occasional (29-5%)
HP:0005988 先天性筋性斜頚 Occasional (29-5%)
HP:0100790 ヘルニア Occasional (29-5%)


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: 1

Gene Symbol 遺伝子名 Entrez Gene ID
ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 57222