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Congenital Intestinal Aganglionosis

MedGen UID:
775722
•Concept ID:
C3661523
•
Disease or Syndrome

Professional guidelines

PubMed

Guidelines for diagnosis and management of congenital central hypoventilation syndrome.
Trang H, Samuels M, Ceccherini I, Frerick M, Garcia-Teresa MA, Peters J, Schoeber J, Migdal M, Markstrom A, Ottonello G, Piumelli R, Estevao MH, Senecic-Cala I, Gnidovec-Strazisar B, Pfleger A, Porto-Abal R, Katz-Salamon M
Orphanet J Rare Dis 2020 Sep 21;15(1):252. doi: 10.1186/s13023-020-01460-2. PMID: 32958024Free PMC Article
Guidelines for the diagnosis and management of Hirschsprung-associated enterocolitis.
Gosain A, Frykman PK, Cowles RA, Horton J, Levitt M, Rothstein DH, Langer JC, Goldstein AM; American Pediatric Surgical Association Hirschsprung Disease Interest Group
Pediatr Surg Int 2017 May;33(5):517-521. Epub 2017 Feb 2 doi: 10.1007/s00383-017-4065-8. PMID: 28154902Free PMC Article
Hirschsprung's disease: diagnosis and management.
Kessmann J
Am Fam Physician 2006 Oct 15;74(8):1319-22. PMID: 17087425

Recent clinical studies

Etiology

Genetics of Hirschsprung's disease.
Tang CS, Karim A, Zhong Y, Chung PH, Tam PK
Pediatr Surg Int 2023 Feb 7;39(1):104. doi: 10.1007/s00383-022-05358-x. PMID: 36749416
Hirschsprung, RET-SOX and beyond: the challenge of examining non-mendelian traits (Review).
Pusch CM, Sasiadek MM, Blin N
Int J Mol Med 2002 Oct;10(4):367-70. PMID: 12239580
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.
Salomon R, Attié T, Pelet A, Bidaud C, Eng C, Amiel J, Sarnacki S, Goulet O, Ricour C, Nihoul-Fékété C, Munnich A, Lyonnet S
Nat Genet 1996 Nov;14(3):345-7. doi: 10.1038/ng1196-345. PMID: 8896569
Diagnosis of Hirschsprung's disease.
Kekomäki M, Rapola J, Louhimo I
Acta Paediatr Scand 1979 Nov;68(6):893-7. doi: 10.1111/j.1651-2227.1979.tb08229.x. PMID: 539412

Diagnosis

Diminished Ret expression compromises neuronal survival in the colon and causes intestinal aganglionosis in mice.
Uesaka T, Nagashimada M, Yonemura S, Enomoto H
J Clin Invest 2008 May;118(5):1890-8. doi: 10.1172/JCI34425. PMID: 18414682Free PMC Article
Diagnostic and therapeutic problems in a case of prenatally detected fetal hydrocolpos.
Geipel A, Berg C, Germer U, Ahrens P, Gloeckner-Hofmann K, Möller J, Gembruch U
Ultrasound Obstet Gynecol 2001 Aug;18(2):169-72. doi: 10.1046/j.1469-0705.2001.00410.x. PMID: 11530001
Diagnosis of Hirschsprung's disease.
Kekomäki M, Rapola J, Louhimo I
Acta Paediatr Scand 1979 Nov;68(6):893-7. doi: 10.1111/j.1651-2227.1979.tb08229.x. PMID: 539412
Hirschsprung's disease and congenital deafness.
Skinner R, Irvine D
J Med Genet 1973 Dec;10(4):337-9. doi: 10.1136/jmg.10.4.337. PMID: 4774830Free PMC Article

Prognosis

Genetics of Hirschsprung's disease.
Tang CS, Karim A, Zhong Y, Chung PH, Tam PK
Pediatr Surg Int 2023 Feb 7;39(1):104. doi: 10.1007/s00383-022-05358-x. PMID: 36749416
Diagnostic and therapeutic problems in a case of prenatally detected fetal hydrocolpos.
Geipel A, Berg C, Germer U, Ahrens P, Gloeckner-Hofmann K, Möller J, Gembruch U
Ultrasound Obstet Gynecol 2001 Aug;18(2):169-72. doi: 10.1046/j.1469-0705.2001.00410.x. PMID: 11530001

Clinical prediction guides

Genetics of Hirschsprung's disease.
Tang CS, Karim A, Zhong Y, Chung PH, Tam PK
Pediatr Surg Int 2023 Feb 7;39(1):104. doi: 10.1007/s00383-022-05358-x. PMID: 36749416
Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan.
Wu TT, Tsai TW, Chu CT, Lee ZF, Hung CM, Su CC, Li SY, Hsieh M, Li C
J Hum Genet 2005;50(4):168-174. Epub 2005 Apr 15 doi: 10.1007/s10038-005-0236-x. PMID: 15834508
Hirschsprung, RET-SOX and beyond: the challenge of examining non-mendelian traits (Review).
Pusch CM, Sasiadek MM, Blin N
Int J Mol Med 2002 Oct;10(4):367-70. PMID: 12239580
Genetics of Hirschsprung disease.
Parisi MA, Kapur RP
Curr Opin Pediatr 2000 Dec;12(6):610-7. doi: 10.1097/00008480-200012000-00017. PMID: 11106284

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