Severe generalized recessive dystrophic epidermolysis bullosa

Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.



患者の 徴候・症状 を入力


症例報告を絞り込む



合計: 2 （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%)		 27722157
(5043167)
 Maintenance Hemodialysis Using Native Arteriovenous Fistula in a Patient with Severe Generalized Recessive Dystrophic Epidermolysis Bullosa.
Ito T, Ishikawa E, Matsuo H, Fujimoto M, Murata T, Isoda K, Mizutani H, Ito M.
Case Rep Nephrol Dial. 2016;6(2):96-100.
基底細胞癌
1
(4.0%)		 21182502
 A novel homozygous splice site mutation in COL7A1 in a Chinese patient with severe recessive dystrophic epidermolysis bullosa and squamous cell carcinoma.
Huang L, Wong YP, Burd A.
Int J Dermatol. 2011;50(1):52-6.
基底細胞癌
COL7A1
c|SUB|G|IVS64+5|A
Asians Molecular Sequence Data RNAスプライシング VII型コラーゲン エクソン ヒト ホモ接合体 劣性遺伝子 塩基配列 扁平細胞腫瘍 栄養障害型表皮水疱症 男 皮膚 皮膚癌 若年成人 配列欠損
        

徴候・症状リスト（Orphanetデータベースから取得）

    合計: 31

HPO ID 徴候・症状 頻度
HP:0000160 狭い口 Very frequent (99-80%)
HP:0000670 齲歯 Very frequent (99-80%)
HP:0000987 非典型的皮膚瘢痕 Very frequent (99-80%)
HP:0000989 掻痒 Very frequent (99-80%)
HP:0001056 稗粒腫 Very frequent (99-80%)
HP:0001510 成長遅滞 Very frequent (99-80%)
HP:0001802 趾爪欠損 Very frequent (99-80%)
HP:0001817 指爪欠損 Very frequent (99-80%)
HP:0002015 嚥下障害 Very frequent (99-80%)
HP:0002019 便秘 Very frequent (99-80%)
HP:0002043 食道胸抱く Very frequent (99-80%)
HP:0004334 皮膚萎縮 Very frequent (99-80%)
HP:0004378 肛門の異常 Very frequent (99-80%)
HP:0005505 難治性貧血 Very frequent (99-80%)
HP:0006739 皮膚基底細胞癌 Very frequent (99-80%)
HP:0008066 異常な皮膚水泡 Very frequent (99-80%)
HP:0010296 舌癒着 Very frequent (99-80%)
HP:0000498 眼瞼炎 Frequent (79-30%)
HP:0000529 進行性視力喪失 Frequent (79-30%)
HP:0000572 視力喪失 Frequent (79-30%)
HP:0000656 外反(眼瞼) Frequent (79-30%)
HP:0000823 思春期遅発 Frequent (79-30%)
HP:0000938 骨減少症 Frequent (79-30%)
HP:0000939 骨粗鬆症 Frequent (79-30%)
HP:0001371 屈曲拘縮 Frequent (79-30%)
HP:0004057 ミトン変形 Frequent (79-30%)
HP:0004552 頭皮の瘢痕性禿頭 Frequent (79-30%)
HP:0011457 睫毛喪失 Frequent (79-30%)
HP:0200020 角膜びらん Frequent (79-30%)
HP:0001644 拡張型心筋症 Occasional (29-5%)
HP:0003073 低アルブミン血症 Occasional (29-5%)


徴候・症状リスト（症例報告から取得）

    合計: 1

HPO ID 徴候・症状 症例報告数
HP:0004947 動静脈瘻 1


疾患原因遺伝子リスト（Orphanetデータベースから取得）

    合計: 2

Gene Symbol 遺伝子名 Entrez Gene ID
COL7A1 collagen type VII alpha 1 chain 1294
MMP1 matrix metallopeptidase 1 4312