U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Etiology

Kapoor A, Nandakumar P, Auer DR, Sosa MX, Ross H, Bollinger J, Yan J, Berrios C; Hirschsprung Disease Research Collaborative (HDRC), Chakravarti A
J Pediatr Surg 2021 Dec;56(12):2286-2294. Epub 2021 Apr 20 doi: 10.1016/j.jpedsurg.2021.04.010. PMID: 34006365Free PMC Article
Tilghman JM, Ling AY, Turner TN, Sosa MX, Krumm N, Chatterjee S, Kapoor A, Coe BP, Nguyen KH, Gupta N, Gabriel S, Eichler EE, Berrios C, Chakravarti A
N Engl J Med 2019 Apr 11;380(15):1421-1432. doi: 10.1056/NEJMoa1706594. PMID: 30970187Free PMC Article
Jiang M, Li C, Cao G, Yang D, Zhang X, Yang L, Li S, Tang ST
Sci Rep 2017 Aug 30;7(1):9913. doi: 10.1038/s41598-017-10477-w. PMID: 28855726Free PMC Article
Gunadi, Makhmudi A, Agustriani N, Rochadi
Pediatr Surg Int 2016 Nov;32(11):1025-1028. Epub 2016 Jul 28 doi: 10.1007/s00383-016-3953-7. PMID: 27469503
Liang CM, Ji DM, Yuan X, Ren LL, Shen J, Zhang HY
PLoS One 2014;9(3):e90091. Epub 2014 Mar 20 doi: 10.1371/journal.pone.0090091. PMID: 24651702Free PMC Article

Diagnosis

Bachetti T, Rosamilia F, Bartolucci M, Santamaria G, Mosconi M, Sartori S, De Filippo MR, Di Duca M, Obino V, Avanzini S, Mavilio D, Candiani S, Petretto A, Pini Prato A, Ceccherini I, Lantieri F
Int J Mol Sci 2021 Apr 7;22(8) doi: 10.3390/ijms22083831. PMID: 33917126Free PMC Article
Zhang ZW, Guo X, Qi XP
Endocr Metab Immune Disord Drug Targets 2021;21(3):534-543. doi: 10.2174/1871530320666200910112230. PMID: 32914730
Wang XJ, Camilleri M
Dig Dis Sci 2019 Oct;64(10):2750-2756. Epub 2019 Apr 5 doi: 10.1007/s10620-019-05605-7. PMID: 30953226Free 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
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

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

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...