Classical Ehlers-Danlos syndrome

Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.



患者の 徴候・症状 を入力


症例報告を絞り込む



合計: 12 （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)
10
(4.0%)		 11992482
 Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.
Giunta C, Nuytinck L, Raghunath M, Hausser I, De Paepe A, Steinmann B.
Am J Med Genet. 2002;109(4):284-90.
柔らかい皮膚
COL1A1 COL5A1 COL5A2 COL5A3 THBS2 TNXB
p|SUB|G|1489|E;RS#:121912932 p|SUB|G|530|S;RS#:61735045 rs61735045
DNA変異解析 アミノ酸置換 エーラース・ダンロス症候群 デオキシリボ核酸 ハプロタイプ ヒト ホモ接合体 女 子供（未就学） 男 皮膚 電子顕微鏡
10
(4.0%)		 9148166
 [Ehlers-Danlos syndrome IV: phenotype variation].
Engels CH, van Dongen PW, Boers GH, Steijlen PM, Hamel BC.
Ned Tijdschr Geneeskd. 1997;141(6):296-8.
過伸展皮膚
エーラース・ダンロス症候群 ヒト 女 子供（未就学） 成人
        

徴候・症状リスト（Orphanetデータベースから取得）

    合計: 74

HPO ID 徴候・症状 頻度
HP:0000157 舌の異常 Very frequent (99-80%)
HP:0000168 歯肉の異常 Very frequent (99-80%)
HP:0000325 三角形の顔 Very frequent (99-80%)
HP:0000501 緑内障 Very frequent (99-80%)
HP:0000768 はと胸 Very frequent (99-80%)
HP:0000822 高血圧 Very frequent (99-80%)
HP:0000964 湿疹 Very frequent (99-80%)
HP:0000967 点状出血 Very frequent (99-80%)
HP:0000974 過伸展皮膚 Very frequent (99-80%)
HP:0000987 非典型的皮膚瘢痕 Very frequent (99-80%)
HP:0001065 伸展線 Very frequent (99-80%)
HP:0001166 くも指 Very frequent (99-80%)
HP:0002097 肺気腫 Very frequent (99-80%)
HP:0002099 喘息 Very frequent (99-80%)
HP:0002615 低血圧 Very frequent (99-80%)
HP:0002705 高狭口蓋 Very frequent (99-80%)
HP:0003298 潜在性二分脊椎 Very frequent (99-80%)
HP:0003307 前弯 Very frequent (99-80%)
HP:0005105 異常な鼻形態 Very frequent (99-80%)
HP:0005294 動脈解離 Very frequent (99-80%)
HP:0005692 関節過伸展 Very frequent (99-80%)
HP:0009721 粒起革(なめし革)様斑 Very frequent (99-80%)
HP:0010620 頬突出 Very frequent (99-80%)
HP:0011830 口腔粘膜異常 Very frequent (99-80%)
HP:0000275 狭い顔 Frequent (79-30%)
HP:0000963 薄い皮膚 Frequent (79-30%)
HP:0000978 出血傾向 Frequent (79-30%)
HP:0001063 肢端チアノーゼ Frequent (79-30%)
HP:0001324 筋虚弱 Frequent (79-30%)
HP:0001373 関節脱臼 Frequent (79-30%)
HP:0001537 臍ヘルニア Frequent (79-30%)
HP:0001622 早産 Frequent (79-30%)
HP:0001634 僧帽弁逸脱 Frequent (79-30%)
HP:0001704 三尖弁逸脱 Frequent (79-30%)
HP:0002036 裂孔ヘルニア Frequent (79-30%)
HP:0002650 側弯 Frequent (79-30%)
HP:0003326 筋痛 Frequent (79-30%)
HP:0005293 静脈不全 Frequent (79-30%)
HP:0010318 腹壁筋無形成/低形成 Frequent (79-30%)
HP:0010783 紅斑 Frequent (79-30%)
HP:0100720 耳軟骨低形成 Frequent (79-30%)
HP:0000023 鼠径ヘルニア Occasional (29-5%)
HP:0000091 腎尿細管異常 Occasional (29-5%)
HP:0000286 内眼角贅皮 Occasional (29-5%)
HP:0000431 幅広い鼻梁 Occasional (29-5%)
HP:0000482 小角膜 Occasional (29-5%)
HP:0000541 網膜剥離 Occasional (29-5%)
HP:0000545 近視 Occasional (29-5%)
HP:0000592 青色強膜 Occasional (29-5%)
HP:0000689 不正咬合 Occasional (29-5%)
HP:0000691 小歯 Occasional (29-5%)
HP:0001025 蕁麻疹 Occasional (29-5%)
HP:0001083 異所性水晶体 Occasional (29-5%)
HP:0001119 球状角膜 Occasional (29-5%)
HP:0001131 角膜ジストロフィー Occasional (29-5%)
HP:0001252 筋緊張低下 Occasional (29-5%)
HP:0001631 心房中隔欠損 Occasional (29-5%)
HP:0001763 扁平足 Occasional (29-5%)
HP:0002076 偏頭痛 Occasional (29-5%)
HP:0002107 気胸 Occasional (29-5%)
HP:0002758 骨関節炎 Occasional (29-5%)
HP:0002808 後弯 Occasional (29-5%)
HP:0004322 低身長 Occasional (29-5%)
HP:0004326 悪液質 (カヘキシー) Occasional (29-5%)
HP:0004372 意識減少/混乱 Occasional (29-5%)
HP:0005111 上行大動脈拡張 Occasional (29-5%)
HP:0009804 歯数の減少 number of teeth Occasional (29-5%)
HP:0010807 開放咬合 Occasional (29-5%)
HP:0012378 疲労 Occasional (29-5%)
HP:0100326 免疫学的過敏性 Occasional (29-5%)
HP:0100543 認知障害 Occasional (29-5%)
HP:0100818 長い胸郭 Occasional (29-5%)
HP:0100823 性器ヘルニア Occasional (29-5%)
HP:0200034 丘疹 Occasional (29-5%)


徴候・症状リスト（症例報告から取得）

    合計: 9

HPO ID 徴候・症状 症例報告数
HP:0001382 関節過動 2
HP:0000974 過伸展皮膚 1
HP:0000977 柔らかい皮膚 1
HP:0001058 傷治癒不全 1
HP:0001075 萎縮性瘢痕 1
HP:0002650 側弯 1
HP:0005294 動脈解離 1
HP:0008443 脊椎変形 1
HP:0100699 瘢痕 1


疾患原因遺伝子リスト（Orphanetデータベースから取得）

    合計: 3

Gene Symbol 遺伝子名 Entrez Gene ID
COL5A2 collagen type V alpha 2 chain 1290
COL5A1 collagen type V alpha 1 chain 1289
COL1A1 collagen type I alpha 1 chain 1277