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Hirschsprung disease, susceptibility to, 1(HSCR1; MGC; HSCR)

MedGen UID:
854827
Concept ID:
C3888239
Finding
Synonyms: Hirschsprung disease 1; HSCR 1; RET-Related Hirschsprung Disease
 
RET (10q11.21)
 
Monarch Initiative: MONDO:0007723
OMIM®: 142623

Definition

Hirschsprung disease can occur in combination with other conditions, such as Waardenburg syndrome, type IV; Mowat-Wilson syndrome; or congenital central hypoventilation syndrome. These cases are described as syndromic. Hirschsprung disease can also occur without other conditions, and these cases are referred to as isolated or nonsyndromic.

There are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, which are defined by the region of the intestine lacking nerve cells. In short-segment disease, nerve cells are missing from only the last segment of the large intestine (colon). This type is most common, occurring in approximately 80 percent of people with Hirschsprung disease. For unknown reasons, short-segment disease is four times more common in men than in women. Long-segment disease occurs when nerve cells are missing from most of the large intestine and is the more severe type. Long-segment disease is found in approximately 20 percent of people with Hirschsprung disease and affects men and women equally. Very rarely, nerve cells are missing from the entire large intestine and sometimes part of the small intestine (total colonic aganglionosis) or from all of the large and small intestine (total intestinal aganglionosis).

Enteric nerves trigger the muscle contractions that move stool through the intestine. Without these nerves in parts of the intestine, the material cannot be pushed through, causing severe constipation or complete blockage of the intestine in people with Hirschsprung disease. Other signs and symptoms of this condition include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth. People with this disorder are at risk of developing more serious conditions such as inflammation of the intestine (enterocolitis) or a hole in the wall of the intestine (intestinal perforation), which can cause serious infection and may be fatal.

Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). This condition is usually identified in the first two months of life, although less severe cases may be diagnosed later in childhood. [from MedlinePlus Genetics]

Clinical features

From HPO

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
Klemetti P, Valta H, Kostjukovits S, Taskinen M, Toiviainen-Salo S, Mäkitie O
Clin Genet 2017 Aug;92(2):204-207. Epub 2017 Mar 19 doi: 10.1111/cge.12969. PMID: 28094436
Moore SW, Zaahl MG
J Pediatr Surg 2008 Feb;43(2):325-9. doi: 10.1016/j.jpedsurg.2007.10.021. PMID: 18280283

Recent clinical studies

Etiology

Kamihara J, Diller LR, Foulkes WD, Michaeli O, Nakano Y, Pajtler KW, Perrino M, Scollon SR, Stewart DR, Voss S, Weksberg R, Hansford JR, Brodeur GM
Clin Cancer Res 2024 Aug 1;30(15):3137-3143. doi: 10.1158/1078-0432.CCR-24-0237. PMID: 38860978
Lan C, Wu Y, Wang N, Luo Y, Zhao J, Zheng Y, Zhang Y, Huang L, Zhu Y, Lu L, Zhong W, Zeng J, Xia H
J Cell Mol Med 2021 Oct;25(20):9609-9616. Epub 2021 Sep 20 doi: 10.1111/jcmm.16905. PMID: 34545688Free PMC Article
Zhang H, Zhao JL, Zheng Y, Xie XL, Huang LH, Li L, Zhu Y, Lu LF, Hu TQ, Zhong W, He QM
BMC Med Genomics 2021 Jan 19;14(1):21. doi: 10.1186/s12920-020-00867-x. PMID: 33468134Free 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
Alves MM, Sribudiani Y, Brouwer RW, Amiel J, Antiñolo G, Borrego S, Ceccherini I, Chakravarti A, Fernández RM, Garcia-Barcelo MM, Griseri P, Lyonnet S, Tam PK, van Ijcken WF, Eggen BJ, te Meerman GJ, Hofstra RM
Dev Biol 2013 Oct 1;382(1):320-9. Epub 2013 May 23 doi: 10.1016/j.ydbio.2013.05.019. PMID: 23707863

Diagnosis

Ji Y, Tam PK, Tang CS
Int J Mol Sci 2021 Sep 7;22(18) doi: 10.3390/ijms22189659. PMID: 34575824Free PMC Article
Tam PK
J Pediatr Surg 2016 Jan;51(1):18-22. Epub 2015 Oct 21 doi: 10.1016/j.jpedsurg.2015.10.021. PMID: 26611330
Borrego S, Ruiz-Ferrer M, Fernández RM, Antiñolo G
Histol Histopathol 2013 Sep;28(9):1117-36. Epub 2013 Apr 19 doi: 10.14670/HH-28.1117. PMID: 23605783
Martucciello G
Eur J Pediatr Surg 2008 Jun;18(3):140-9. doi: 10.1055/s-2008-1038625. PMID: 18493886
Moore SW, Zaahl MG
Pediatr Surg Int 2008 May;24(5):521-30. Epub 2008 Mar 26 doi: 10.1007/s00383-008-2137-5. PMID: 18365214

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
Zhang Z, Li Q, Diao M, Liu N, Cheng W, Xiao P, Zou J, Su L, Yu K, Wu J, Li L, Jiang Q
Sci Rep 2017 Nov 1;7(1):14796. doi: 10.1038/s41598-017-14835-6. PMID: 29093530Free PMC Article
Cheng WW, Tang CS, Gui HS, So MT, Lui VC, Tam PK, Garcia-Barcelo MM
World J Gastroenterol 2015 Feb 21;21(7):2040-6. doi: 10.3748/wjg.v21.i7.2040. PMID: 25717236Free PMC Article

Prognosis

Gunadi, Budi NYP, Sethi R, Fauzi AR, Kalim AS, Indrawan T, Iskandar K, Makhmudi A, Adrianto I, San LP
BMC Pediatr 2018 Sep 4;18(1):292. doi: 10.1186/s12887-018-1265-x. PMID: 30180823Free PMC Article
Zhang Z, Li Q, Diao M, Liu N, Cheng W, Xiao P, Zou J, Su L, Yu K, Wu J, Li L, Jiang Q
Sci Rep 2017 Nov 1;7(1):14796. doi: 10.1038/s41598-017-14835-6. PMID: 29093530Free PMC Article
Kim JH, Jung SM, Shin JG, Cheong HS, Seo JM, Kim DY, Oh JT, Kim HY, Jung K, Shin HD
Mol Biol Rep 2017 Jul;44(3):307-313. Epub 2017 Jun 29 doi: 10.1007/s11033-017-4111-6. PMID: 28664405
Moore SW, Zaahl MG
Pediatr Surg Int 2008 May;24(5):521-30. Epub 2008 Mar 26 doi: 10.1007/s00383-008-2137-5. PMID: 18365214
Lantieri F, Griseri P, Ceccherini I
Ann Med 2006;38(1):11-9. doi: 10.1080/07853890500442758. PMID: 16448984

Clinical prediction guides

Zhang Z, Li Q, Diao M, Liu N, Cheng W, Xiao P, Zou J, Su L, Yu K, Wu J, Li L, Jiang Q
Sci Rep 2017 Nov 1;7(1):14796. doi: 10.1038/s41598-017-14835-6. PMID: 29093530Free PMC Article
Kim JH, Jung SM, Shin JG, Cheong HS, Seo JM, Kim DY, Oh JT, Kim HY, Jung K, Shin HD
Mol Biol Rep 2017 Jul;44(3):307-313. Epub 2017 Jun 29 doi: 10.1007/s11033-017-4111-6. PMID: 28664405
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
Moore SW, Zaahl MG
Pediatr Surg Int 2008 May;24(5):521-30. Epub 2008 Mar 26 doi: 10.1007/s00383-008-2137-5. PMID: 18365214
Lantieri F, Griseri P, Ceccherini I
Ann Med 2006;38(1):11-9. doi: 10.1080/07853890500442758. PMID: 16448984

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

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