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Hirschsprung disease, susceptibility to, 8(HSCR8)

MedGen UID:
409841
Concept ID:
C1969482
Finding
Synonyms: Hirschsprung disease 8; HSCR8
 
Monarch Initiative: MONDO:0012042
OMIM®: 608462

Definition

The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623. [from OMIM]

Professional guidelines

PubMed

Zhang ZW, Guo X, Qi XP
Endocr Metab Immune Disord Drug Targets 2021;21(3):534-543. doi: 10.2174/1871530320666200910112230. PMID: 32914730
Shimokaze T, Sasaki A, Meguro T, Hasegawa H, Hiraku Y, Yoshikawa T, Kishikawa Y, Hayasaka K
J Hum Genet 2015 Sep;60(9):473-7. Epub 2015 Jun 11 doi: 10.1038/jhg.2015.65. PMID: 26063465
Borrego S, Ruiz A, Saez ME, Gimm O, Gao X, López-Alonso M, Hernández A, Wright FA, Antiñolo G, Eng C
J Med Genet 2000 Aug;37(8):572-8. doi: 10.1136/jmg.37.8.572. PMID: 10922382Free PMC Article

Recent clinical studies

Therapy

Nassar R, Hazan G, Leibovitz E, Ling G, Lazar I, Khalaila A, Fruchtman Y, Yerushalmi B
Eur J Clin Microbiol Infect Dis 2020 Mar;39(3):517-525. Epub 2019 Nov 25 doi: 10.1007/s10096-019-03753-2. PMID: 31768705
Xie X, He Q, Huang L, Li L, Yao Y, Xia H, Zhao J, Zhong W, Zhang Y
Biosci Rep 2019 Aug 30;39(8) Epub 2019 Aug 13 doi: 10.1042/BSR20182290. PMID: 31358688Free PMC Article
Sato K, Sasaki R, Ohta Y, Takemoto M, Hishikawa N, Yamashita T, Abe K
J Stroke Cerebrovasc Dis 2019 Aug;28(8):e113-e115. Epub 2019 May 22 doi: 10.1016/j.jstrokecerebrovasdis.2019.04.035. PMID: 31129106

Prognosis

Yang W, Chen SC, Lai JY, Ming YC, Chen JC, Chen PL
Neurogastroenterol Motil 2019 Nov;31(11):e13665. Epub 2019 Jun 25 doi: 10.1111/nmo.13665. PMID: 31240788
El-Matary W, Nugent Z, Yu BN, Lix LM, Targownik LE, Bernstein CN, Singh H
J Pediatr 2019 Mar;206:20-25. Epub 2018 Nov 15 doi: 10.1016/j.jpeds.2018.10.041. PMID: 30448272
Nakamura H, Lim T, Puri P
Pediatr Surg Int 2018 Feb;34(2):149-154. Epub 2017 Oct 5 doi: 10.1007/s00383-017-4182-4. PMID: 28983688
Gunadi, Kapoor A, Ling AY, Rochadi, Makhmudi A, Herini ES, Sosa MX, Chatterjee S, Chakravarti A
J Pediatr Surg 2014 Nov;49(11):1614-8. Epub 2014 Aug 28 doi: 10.1016/j.jpedsurg.2014.04.011. PMID: 25475805Free PMC Article
Moore SW
Pediatr Surg Int 2006 Apr;22(4):305-15. Epub 2006 Mar 4 doi: 10.1007/s00383-006-1655-2. PMID: 16518596

Clinical prediction guides

Yang W, Chen SC, Lai JY, Ming YC, Chen JC, Chen PL
Neurogastroenterol Motil 2019 Nov;31(11):e13665. Epub 2019 Jun 25 doi: 10.1111/nmo.13665. PMID: 31240788
El-Matary W, Nugent Z, Yu BN, Lix LM, Targownik LE, Bernstein CN, Singh H
J Pediatr 2019 Mar;206:20-25. Epub 2018 Nov 15 doi: 10.1016/j.jpeds.2018.10.041. PMID: 30448272
Su L, Zhang Z, Gan L, Jiang Q, Xiao P, Zou J, Li Q, Jiang H
Exp Mol Pathol 2016 Oct;101(2):241-248. Epub 2016 Sep 13 doi: 10.1016/j.yexmp.2016.09.003. PMID: 27619161
Shimokaze T, Sasaki A, Meguro T, Hasegawa H, Hiraku Y, Yoshikawa T, Kishikawa Y, Hayasaka K
J Hum Genet 2015 Sep;60(9):473-7. Epub 2015 Jun 11 doi: 10.1038/jhg.2015.65. PMID: 26063465
Fernández RM, Bleda M, Luzón-Toro B, García-Alonso L, Arnold S, Sribudiani Y, Besmond C, Lantieri F, Doan B, Ceccherini I, Lyonnet S, Hofstra RM, Chakravarti A, Antiñolo G, Dopazo J, Borrego S
Orphanet J Rare Dis 2013 Dec 2;8:187. doi: 10.1186/1750-1172-8-187. PMID: 24289864Free PMC Article

Recent systematic reviews

Zhang ZW, Guo X, Qi XP
Endocr Metab Immune Disord Drug Targets 2021;21(3):534-543. doi: 10.2174/1871530320666200910112230. PMID: 32914730
Amooee A, Lookzadeh MH, Mirjalili SR, Miresmaeili SM, Aghili K, Zare-Shehneh M, Neamatzadeh H
Arq Bras Cir Dig 2019;32(3):e1448. Epub 2019 Oct 21 doi: 10.1590/0102-672020190001e1448. PMID: 31644668Free PMC Article
Nakamura H, Lim T, Puri P
Pediatr Surg Int 2018 Feb;34(2):149-154. Epub 2017 Oct 5 doi: 10.1007/s00383-017-4182-4. PMID: 28983688

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