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Total colonic aganglionosis

MedGen UID:
43235
Concept ID:
C0085758
Congenital Abnormality
Synonyms: Aganglionosis, Colonic; Aganglionosis, Total Colonic; Colonic Aganglionosis; Total Colonic Aganglionosis
SNOMED CT: Total colonic aganglionosis (253780003); TCA - Total colonic aganglionosis (253780003); Aganglionosis of colon (360441005)
 
HPO: HP:0011286

Definition

A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTotal colonic aganglionosis

Recent clinical studies

Etiology

Miyano G, Nakamura H, Seo S, Sueyoshi R, Okawada M, Doi T, Koga H, Lane GJ, Okazaki T, Yamataka A
J Laparoendosc Adv Surg Tech A 2017 Mar;27(3):302-305. Epub 2017 Jan 12 doi: 10.1089/lap.2016.0216. PMID: 28080215
Stenström P, Brautigam M, Borg H, Graneli C, Lilja HE, Wester T
J Pediatr Surg 2017 Aug;52(8):1302-1307. Epub 2016 Nov 17 doi: 10.1016/j.jpedsurg.2016.11.033. PMID: 27912975
Shin JG, Kim DY, Seo JM, Oh JT, Park KW, Kim HY, Park BL, Kim JH, Shin HD
Neurogastroenterol Motil 2016 Jul;28(7):1055-63. Epub 2016 Mar 11 doi: 10.1111/nmo.12807. PMID: 26970437
Li Q, Li L, Jiang Q, Zhang Z, Xiao P
Pediatr Surg Int 2016 May;32(5):477-82. Epub 2016 Feb 1 doi: 10.1007/s00383-016-3870-9. PMID: 26833313
Yeh YT, Tsai HL, Chen CY, Wang JB, Chin TW, Wei CF, Liu CS
J Chin Med Assoc 2014 Oct;77(10):519-23. Epub 2014 Aug 29 doi: 10.1016/j.jcma.2014.05.012. PMID: 25167835

Diagnosis

Miyano G, Nakamura H, Seo S, Sueyoshi R, Okawada M, Doi T, Koga H, Lane GJ, Okazaki T, Yamataka A
J Laparoendosc Adv Surg Tech A 2017 Mar;27(3):302-305. Epub 2017 Jan 12 doi: 10.1089/lap.2016.0216. PMID: 28080215
Shin JG, Kim DY, Seo JM, Oh JT, Park KW, Kim HY, Park BL, Kim JH, Shin HD
Neurogastroenterol Motil 2016 Jul;28(7):1055-63. Epub 2016 Mar 11 doi: 10.1111/nmo.12807. PMID: 26970437
Li Q, Li L, Jiang Q, Zhang Z, Xiao P
Pediatr Surg Int 2016 May;32(5):477-82. Epub 2016 Feb 1 doi: 10.1007/s00383-016-3870-9. PMID: 26833313
Li MH, Eberhard M, Mudd P, Javia L, Zimmerman R, Khalek N, Zackai EH
Am J Med Genet A 2015 Mar;167A(3):617-20. Epub 2015 Jan 21 doi: 10.1002/ajmg.a.36915. PMID: 25604768
Moore SW
Pediatr Surg Int 2015 Jan;31(1):1-9. Epub 2014 Oct 31 doi: 10.1007/s00383-014-3634-3. PMID: 25367097

Therapy

Badal B, Wilsey MJ, Karjoo S
J Med Case Rep 2017 Aug 31;11(1):244. doi: 10.1186/s13256-017-1390-4. PMID: 28854959Free PMC Article
Sun S, Chen G, Zheng S, Dong K, Xiao X
J Pediatr Surg 2017 Mar;52(3):458-462. Epub 2016 Aug 31 doi: 10.1016/j.jpedsurg.2016.08.016. PMID: 27712891
Aworanti OM, McDowell DT, Martin IM, Quinn F
Eur J Pediatr Surg 2016 Apr;26(2):192-9. Epub 2015 Feb 2 doi: 10.1055/s-0034-1544053. PMID: 25643245
Das Narla L, Hingsbergen EA
Radiology 2000 May;215(2):391-4. doi: 10.1148/radiology.215.2.r00ma32391. PMID: 10796914
Ikawa H, Masuyama H, Hirabayashi T, Endo M, Yokoyama J
J Pediatr Surg 1997 Jan;32(1):25-7. PMID: 9021561

Prognosis

Miyano G, Nakamura H, Seo S, Sueyoshi R, Okawada M, Doi T, Koga H, Lane GJ, Okazaki T, Yamataka A
J Laparoendosc Adv Surg Tech A 2017 Mar;27(3):302-305. Epub 2017 Jan 12 doi: 10.1089/lap.2016.0216. PMID: 28080215
Stenström P, Brautigam M, Borg H, Graneli C, Lilja HE, Wester T
J Pediatr Surg 2017 Aug;52(8):1302-1307. Epub 2016 Nov 17 doi: 10.1016/j.jpedsurg.2016.11.033. PMID: 27912975
Li MH, Eberhard M, Mudd P, Javia L, Zimmerman R, Khalek N, Zackai EH
Am J Med Genet A 2015 Mar;167A(3):617-20. Epub 2015 Jan 21 doi: 10.1002/ajmg.a.36915. PMID: 25604768
Yeh YT, Tsai HL, Chen CY, Wang JB, Chin TW, Wei CF, Liu CS
J Chin Med Assoc 2014 Oct;77(10):519-23. Epub 2014 Aug 29 doi: 10.1016/j.jcma.2014.05.012. PMID: 25167835
Hukkinen M, Koivusalo A, Rintala RJ, Pakarinen MP
J Pediatr Surg 2014 Apr;49(4):570-4. doi: 10.1016/j.jpedsurg.2013.07.021. PMID: 24726115

Clinical prediction guides

Miyano G, Nakamura H, Seo S, Sueyoshi R, Okawada M, Doi T, Koga H, Lane GJ, Okazaki T, Yamataka A
J Laparoendosc Adv Surg Tech A 2017 Mar;27(3):302-305. Epub 2017 Jan 12 doi: 10.1089/lap.2016.0216. PMID: 28080215
Stenström P, Brautigam M, Borg H, Graneli C, Lilja HE, Wester T
J Pediatr Surg 2017 Aug;52(8):1302-1307. Epub 2016 Nov 17 doi: 10.1016/j.jpedsurg.2016.11.033. PMID: 27912975
Li Q, Li L, Jiang Q, Zhang Z, Xiao P
Pediatr Surg Int 2016 May;32(5):477-82. Epub 2016 Feb 1 doi: 10.1007/s00383-016-3870-9. PMID: 26833313
Hukkinen M, Koivusalo A, Rintala RJ, Pakarinen MP
J Pediatr Surg 2014 Apr;49(4):570-4. doi: 10.1016/j.jpedsurg.2013.07.021. PMID: 24726115
Blackburn S, Corbett P, Griffiths DM, Burge D, Beattie RM, Stanton M
Eur J Pediatr Surg 2014 Dec;24(6):488-91. Epub 2013 Dec 17 doi: 10.1055/s-0033-1363159. PMID: 24347288

Recent systematic reviews

Henderson D, Zimmer J, Nakamura H, Puri P
Pediatr Surg Int 2017 Aug;33(8):855-859. Epub 2017 Jun 10 doi: 10.1007/s00383-017-4110-7. PMID: 28601901
Mc Laughlin D, Puri P
Pediatr Surg Int 2015 Aug;31(8):695-700. Epub 2015 Jul 16 doi: 10.1007/s00383-015-3730-z. PMID: 26179259
Coyle D, Friedmacher F, Puri P
Pediatr Surg Int 2014 Aug;30(8):751-6. Epub 2014 Jun 28 doi: 10.1007/s00383-014-3538-2. PMID: 24972642
Laughlin DM, Friedmacher F, Puri P
Pediatr Surg Int 2012 Aug;28(8):773-9. doi: 10.1007/s00383-012-3117-3. PMID: 22842648
Marquez TT, Acton RD, Hess DJ, Duval S, Saltzman DA
J Pediatr Surg 2009 Jan;44(1):257-65; discussion 265. doi: 10.1016/j.jpedsurg.2008.10.055. PMID: 19159753

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