High anorectal malformation

High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence.



患者の 徴候症状 を入力


症例報告を絞り込む



合計: 19 (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
(50.2%)
14743324
Exstrophy variants: should they be considered malformation complexes separate from classic exstrophy?
Gupta DK, Charles AR, Srinivas M.
Eur J Pediatr Surg. 2003;13(6):377-82.
二分陰嚢 橈骨欠損
ヒト 新生児 膀胱外反症 膀胱瘻 遡及研究
2
(17.5%)
17001481
Perineal lipomas associated with anorectal malformations.
Wester T, Rintala RJ.
Pediatr Surg Int. 2006;22(12):979-81.
便秘 脂肪腫
ヒト 子供(未就学) 幼児 直腸 脂肪腫 遡及研究
3
(4.0%)
27695213
(4980882)
Currarino syndrome: Rare clinical variants.
Kumar B, Sinha AK, Kumar P, Kumar A.
J Indian Assoc Pediatr Surg. 2016;21(4):187-189.
Rectal atresia
3
(4.0%)
22689733
Association of anorectal malformation with duplicated colon, sacral meningomyelocele and scrotal anomalies.
Singh S, Ahmed I, Rawat J, Panday A.
BMJ Case Rep. 2011;2011:.
重複結腸
ヒト 敗血症 新生児 肛門直腸奇形 致死的転帰 鎖肛 陰嚢 髄膜脊髄瘤
3
(4.0%)
21180503
(2998667)
Coeliac disease in a child with anorectal malformation: The importance of considering other causes of diarrhea.
Gopal M, Nour S, Hoskyns W.
J Indian Assoc Pediatr Surg. 2010;15(1):30-1.
体重喪失
3
(4.0%)
20807404
(2936323)
High anorectal malformation in a five-month-old boy: a case report.
Pandey A, Gangopadhyay AN, Kumar V, Sharma SP.
J Med Case Rep. 2010;4:296.
鎖肛
3
(4.0%)
19685046
3-D MR imaging of ectopia vasa deferentia.
Goenka AH, Parihar M, Sharma R, Bhatnagar V, Gupta AK.
Pediatr Radiol. 2009;39(11):1246-9.
交叉癒合性異所性腎
ヒト 三次元イメージング 分離腫 成人 磁気共鳴画像法
3
(4.0%)
19548194
Patients with anorectal malformation and Hirschsprung's disease.
Raboei EH.
Eur J Pediatr Surg. 2009;19(5):325-7.
成長障害 (成長不全)
Saudi Arabia ダウン症候群 ヒト ヒルシュスプルング病 新生児 直腸 遡及研究 鎖肛
3
(4.0%)
19524712
Abdominotransanal approach to pouch colon associated with rectal atresia.
Kazez A, Ozel SK, Bakal U, Sarac M.
J Pediatr Surg. 2009;44(6):E19-21.
Rectal atresia
ヒト 新生児 消化器外科手術 直腸 腸閉鎖
3
(4.0%)
18485937
Congenital pouch colon with duplicate bladder exstrophy.
Mathur P, Rana YP, Simlot A, Soni V.
J Pediatr Surg. 2008;43(5):E9-11.
外反
ヒト 新生児 膀胱外反症 鎖肛
        

徴候・症状リスト(Orphanetデータベースから取得)

    合計: 0

HPO ID 徴候・症状 頻度


徴候・症状リスト(症例報告から取得)

    合計: 11

HPO ID 徴候・症状 症例報告数
HP:0000048 二分陰嚢 1
HP:0001537 臍ヘルニア 1
HP:0001738 外分泌性膵不全 1
HP:0002617 動脈瘤 1
HP:0003244 陰茎尿道下裂 1
HP:0003974 橈骨欠損 1
HP:0004736 交叉癒合性異所性腎 1
HP:0008722 尿道憩室 1
HP:0010480 尿道瘻 1
HP:0025407 Rectourethral fistula 1
HP:0100548 外反 1


疾患原因遺伝子リスト(Orphanetデータベースから取得)

    合計: 0

Gene Symbol 遺伝子名 Entrez Gene ID