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Total intestinal aganglionosis

MedGen UID:
83378
Concept ID:
C0345240
Congenital Abnormality
Synonyms: Aganglionosis, total colonic; Near-total intestinal aganglionosis; Rare form of Hirschsprung's disease
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Total intestinal aganglionosis (204745000)
 
OMIM®: 202550
HPO: HP:0005241

Definition

A complete lack of ganglia in the intestine. This is an extremely severe form of Hirschsprung Disease. [from NCI]

Clinical features

Total intestinal aganglionosis
MedGen UID:
83378
Concept ID:
C0345240
Congenital Abnormality
A complete lack of ganglia in the intestine. This is an extremely severe form of Hirschsprung Disease.

Term Hierarchy

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

Conditions with this feature

Total intestinal aganglionosis
MedGen UID:
83378
Concept ID:
C0345240
Congenital Abnormality
A complete lack of ganglia in the intestine. This is an extremely severe form of Hirschsprung Disease.

Recent clinical studies

Etiology

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
Sauvat F, Grimaldi C, Lacaille F, Ruemmele F, Dupic L, Bourdaud N, Fusaro F, Colomb V, Jan D, Cezard JP, Aigrain Y, Revillon Y, Goulet O
J Pediatr Surg 2008 Oct;43(10):1833-8. doi: 10.1016/j.jpedsurg.2008.03.028. PMID: 18926216
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
Saxton ML, Ein SH, Hoehner J, Kim PC
J Pediatr Surg 2000 May;35(5):669-72. doi: 10.1053/jpsu.2000.5939. PMID: 10813319
Shimotake T, Iwai N, Inoue K, Kimura T, Ichikawa D, Abe T, Inazawa J
J Pediatr Surg 1997 Mar;32(3):498-500. PMID: 9094027

Diagnosis

Ruttenstock E, Puri P
Pediatr Surg Int 2009 Oct;25(10):833-9. doi: 10.1007/s00383-009-2439-2. PMID: 19669647
Sauvat F, Grimaldi C, Lacaille F, Ruemmele F, Dupic L, Bourdaud N, Fusaro F, Colomb V, Jan D, Cezard JP, Aigrain Y, Revillon Y, Goulet O
J Pediatr Surg 2008 Oct;43(10):1833-8. doi: 10.1016/j.jpedsurg.2008.03.028. PMID: 18926216
Takahashi A, Tomomasa T, Suzuki N, Kuroiwa M, Mochiki E, Tsuchida Y, Morikawa A, Kuwano H
J Pediatr Surg 2004 Jul;39(7):1104-6. PMID: 15213908
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
Saxton ML, Ein SH, Hoehner J, Kim PC
J Pediatr Surg 2000 May;35(5):669-72. doi: 10.1053/jpsu.2000.5939. PMID: 10813319

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
Ganousse-Mazeron S, Lacaille F, Colomb-Jung V, Talbotec C, Ruemmele F, Sauvat F, Chardot C, Canioni D, Jan D, Revillon Y, Goulet O
Clin Nutr 2015 Jun;34(3):428-35. Epub 2014 Apr 30 doi: 10.1016/j.clnu.2014.04.015. PMID: 25015836
Tatekawa Y, Muraji T, Takamizawa S
J Pediatr Surg 2007 Apr;42(4):E9-12. doi: 10.1016/j.jpedsurg.2007.01.058. PMID: 17448751
Rodrigues AF, van Mourik ID, Sharif K, Barron DJ, de Giovanni JV, Bennett J, Bromley P, Protheroe S, John P, de Ville de Goyet J, Beath SV
J Pediatr Gastroenterol Nutr 2006 Apr;42(4):427-33. doi: 10.1097/01.mpg.0000215311.71040.89. PMID: 16641582

Prognosis

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
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
Sauvat F, Grimaldi C, Lacaille F, Ruemmele F, Dupic L, Bourdaud N, Fusaro F, Colomb V, Jan D, Cezard JP, Aigrain Y, Revillon Y, Goulet O
J Pediatr Surg 2008 Oct;43(10):1833-8. doi: 10.1016/j.jpedsurg.2008.03.028. PMID: 18926216
Saxton ML, Ein SH, Hoehner J, Kim PC
J Pediatr Surg 2000 May;35(5):669-72. doi: 10.1053/jpsu.2000.5939. PMID: 10813319
Finaly R, Cohen Z, Mares AJ
Eur J Pediatr Surg 1999 Aug;9(4):253-5. doi: 10.1055/s-2008-1072257. PMID: 10532270

Clinical prediction guides

Tomuschat C, Puri P
Pediatr Surg Int 2015 Aug;31(8):701-10. Epub 2015 Jul 12 doi: 10.1007/s00383-015-3731-y. PMID: 26164711
Ganousse-Mazeron S, Lacaille F, Colomb-Jung V, Talbotec C, Ruemmele F, Sauvat F, Chardot C, Canioni D, Jan D, Revillon Y, Goulet O
Clin Nutr 2015 Jun;34(3):428-35. Epub 2014 Apr 30 doi: 10.1016/j.clnu.2014.04.015. PMID: 25015836
Tatekawa Y, Muraji T, Takamizawa S
J Pediatr Surg 2007 Apr;42(4):E9-12. doi: 10.1016/j.jpedsurg.2007.01.058. PMID: 17448751
Takahashi A, Tomomasa T, Suzuki N, Kuroiwa M, Mochiki E, Tsuchida Y, Morikawa A, Kuwano H
J Pediatr Surg 2004 Jul;39(7):1104-6. PMID: 15213908
Shimotake T, Iwai N, Inoue K, Kimura T, Ichikawa D, Abe T, Inazawa J
J Pediatr Surg 1997 Mar;32(3):498-500. PMID: 9094027

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
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
Tomuschat C, Puri P
Pediatr Surg Int 2015 Aug;31(8):701-10. Epub 2015 Jul 12 doi: 10.1007/s00383-015-3731-y. PMID: 26164711
Hofmann AD, Duess JW, Puri P
Pediatr Surg Int 2014 Aug;30(8):757-61. Epub 2014 Jun 29 doi: 10.1007/s00383-014-3529-3. PMID: 24974188
Ruttenstock E, Puri P
Pediatr Surg Int 2009 Oct;25(10):833-9. doi: 10.1007/s00383-009-2439-2. PMID: 19669647

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