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Aganglionosis, total intestinal

MedGen UID:
83378
Concept ID:
C0345240
Congenital Abnormality
Synonym: Rare form of Hirschsprung's disease
SNOMED CT: Total intestinal aganglionosis (204745000)
 
HPO: HP:0005241
Monarch Initiative: MONDO:0008738
OMIM®: 202550

Definition

A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel. [from HPO]

Clinical features

From HPO
Aganglionosis, total intestinal
MedGen UID:
83378
Concept ID:
C0345240
Congenital Abnormality
A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel.

Conditions with this feature

Aganglionosis, total intestinal
MedGen UID:
83378
Concept ID:
C0345240
Congenital Abnormality
A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel.
ABCD syndrome
MedGen UID:
333014
Concept ID:
C1838099
Disease or Syndrome
ABCD syndrome (ABCDS) is an autosomal recessive disorder characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease), and deafness (summary by Verheij et al., 2002).

Professional guidelines

PubMed

Kimura O, Ono S, Furukawa T, Higuchi K, Deguchi E, Iwai N
J Pediatr Surg 2009 Aug;44(8):1564-7. doi: 10.1016/j.jpedsurg.2008.11.050. PMID: 19635306
Moore SW, Zaahl MG
J Pediatr Surg 2008 Feb;43(2):325-9. doi: 10.1016/j.jpedsurg.2007.10.021. PMID: 18280283
Sharif K, Beath SV, Kelly DA, McKiernan P, van Mourik I, Mirza D, Mayer AD, Buckels JA, de Ville de Goyet J
J Pediatr Surg 2003 Jan;38(1):25-8; discussion 25-8. doi: 10.1053/jpsu.2003.50004. PMID: 12592613

Recent clinical studies

Etiology

Fusaro F, Morini F, Mutanen A, De Angelis P, Tambucci R, Capriati T, Hermans D, Candusso M, Diamanti A, Bagolan P, Pakarinen M
J Pediatr Gastroenterol Nutr 2019 May;68(5):635-641. doi: 10.1097/MPG.0000000000002260. PMID: 30614951
Moore SW, Zaahl M
J Pediatr Surg 2015 Feb;50(2):285-8. Epub 2014 Nov 7 doi: 10.1016/j.jpedsurg.2014.11.016. PMID: 25638620
HAYS DM, NORRIS WJ
Calif Med 1956 Jun;84(6):403-6. PMID: 13316549Free PMC Article

Diagnosis

Kerkeni Y, Hannachi W, Hamzaoui M
J Neonatal Perinatal Med 2020;13(3):431-433. doi: 10.3233/NPM-180083. PMID: 31771072
Fusaro F, Morini F, Mutanen A, De Angelis P, Tambucci R, Capriati T, Hermans D, Candusso M, Diamanti A, Bagolan P, Pakarinen M
J Pediatr Gastroenterol Nutr 2019 May;68(5):635-641. doi: 10.1097/MPG.0000000000002260. PMID: 30614951
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
Yasui Y, Kohno M, Nishida S, Shironomae T, Satomi M, Kuwahara T, Takahashi S, Niida Y
Congenit Anom (Kyoto) 2017 Jan;57(1):32-34. doi: 10.1111/cga.12175. PMID: 27270827
HAYS DM, NORRIS WJ
Calif Med 1956 Jun;84(6):403-6. PMID: 13316549Free PMC Article

Therapy

Kerkeni Y, Hannachi W, Hamzaoui M
J Neonatal Perinatal Med 2020;13(3):431-433. doi: 10.3233/NPM-180083. PMID: 31771072
Manyapu M, Warraich GJ, Kugathasan S, Syed S
J Pediatr Gastroenterol Nutr 2018 Jul;67(1):e11. doi: 10.1097/MPG.0000000000001161. PMID: 29927873
Jazi FS, Sinclair TJ, Thorson CM, Castillo R, Bonham AC, Esquivel CO, Bruzoni M
Pediatr Surg Int 2018 Jan;34(1):113-116. Epub 2017 Nov 23 doi: 10.1007/s00383-017-4216-y. PMID: 29170900
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

Prognosis

Pini Prato A, Faticato MG, Falconi I, Felici E, Casaccia G, Caraccia M, Nozza P
Pediatr Surg Int 2020 Dec;36(12):1507-1510. Epub 2020 Oct 23 doi: 10.1007/s00383-020-04763-4. PMID: 33095274
Kerkeni Y, Hannachi W, Hamzaoui M
J Neonatal Perinatal Med 2020;13(3):431-433. doi: 10.3233/NPM-180083. PMID: 31771072
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
Nakamura H, Henderson D, Puri P
Pediatr Surg Int 2017 Aug;33(8):837-841. Epub 2017 Jun 9 doi: 10.1007/s00383-017-4107-2. PMID: 28600659

Clinical prediction guides

Lotakis DM, Dheer R, Dame MK, Cuttitta AJ, Tigani DJ, Spence JR, Young VB, Ralls MW
J Pediatr Surg 2023 Jun;58(6):1164-1169. Epub 2023 Feb 18 doi: 10.1016/j.jpedsurg.2023.02.020. PMID: 36922279
Moore SW, Zaahl M
J Pediatr Surg 2015 Feb;50(2):285-8. Epub 2014 Nov 7 doi: 10.1016/j.jpedsurg.2014.11.016. PMID: 25638620
Volpe A, Alaggio R, Midrio P, Iaria L, Gamba P
J Pediatr Gastroenterol Nutr 2013 Dec;57(6):780-7. doi: 10.1097/MPG.0b013e3182a934c7. PMID: 23969533

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