Details of Disease

Disease Name

Hirschsprung disease

macrocolon; congenital intestinal aganglionosis; pelvirectal achalasia; Hirschsprung's disease; Hirschsprung disease susceptibility; aganglionic megacolon; congenital megacolon; HSCR; Hirschsprung disease

Definition

Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

Disease Hierarchy

DISYKSRF: Genetic disease

DIS2IQBH: Neurocristopathy

DISBI73X: Intestinal motility disease

DISUUSM1: Hirschsprung disease

Disease Identifiers

MONDO ID

MONDO_0018309

MESH ID

D006627

UMLS CUI

C0019569

MedGen ID

5559

HPO ID

HP:0002251

Orphanet ID

388

SNOMED CT ID

204739008

General Information of Disease (ID: DISUUSM1)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 43 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BDNF	TTSMLOH	Limited	Biomarker	[1]
DYRK1A	TTSBVFO	Limited	Genetic Variation	[2]
GAL	TTXZAJ5	Limited	Genetic Variation	[3]
GAP43	TTSGLN5	Limited	Genetic Variation	[3]
NTRK3	TTXABCW	Limited	Genetic Variation	[4]
PROKR1	TTB9CIL	Limited	Genetic Variation	[5]
PTGER2	TT1ZAVI	Limited	Biomarker	[6]
SCN10A	TT90XZ8	Limited	Biomarker	[7]
ERBB2	TT6EO5L	Supportive	Autosomal dominant	[8]
ERBB3	TTSINU2	Supportive	Autosomal dominant	[8]
RET	TTY0WT7	Supportive	Autosomal dominant	[9]
SMO	TTW6JVU	Supportive	Autosomal dominant	[10]
SREBF1	TTER0UB	Supportive	Autosomal dominant	[11]
BACE2	TT69DB8	moderate	Genetic Variation	[12]
BMP10	TTTG6H1	moderate	Biomarker	[13]
CTH	TTLQUZS	moderate	Biomarker	[14]
CUL3	TTPCU0Q	moderate	Altered Expression	[15]
EDNRB	TT3ZTGU	moderate	Genetic Variation	[16]
GDNF	TTF23ML	moderate	Altered Expression	[17]
HOXA13	TTN26OM	moderate	Altered Expression	[18]
IL1RL2	TTUS18T	moderate	Altered Expression	[19]
JAG2	TTOJY1B	moderate	Altered Expression	[20]
KITLG	TTDJ51N	moderate	Biomarker	[21]
MAPK10	TT056SO	moderate	Genetic Variation	[22]
PLCB1	TTLPGU7	moderate	Biomarker	[23]
PRKCI	TTWJTHX	moderate	Altered Expression	[23]
PROKR2	TTM67AX	moderate	Genetic Variation	[24]
ACHE	TT1RS9F	Strong	Biomarker	[25]
BMI1	TTIPNSR	Strong	Biomarker	[26]
CD14	TT6I7DC	Strong	Biomarker	[27]
COMT	TTKWFB8	Strong	Genetic Variation	[28]
ECE1	TTQ9RYT	Strong	Biomarker	[29]
GABRG2	TT06RH5	Strong	Genetic Variation	[30]
IL11	TTGUYTR	Strong	Genetic Variation	[31]
KCNN3	TT9JH25	Strong	Altered Expression	[32]
KIR2DL1	TT4UXPE	Strong	Genetic Variation	[33]
KIR2DS1	TTVWAGF	Strong	Genetic Variation	[33]
NTF3	TTZHKV9	Strong	Biomarker	[4]
RGS6	TTJ96M8	Strong	Biomarker	[34]
SEMA3A	TTVKD3S	Strong	Altered Expression	[35]
ZEB2	TTT2WK4	Strong	Biomarker	[36]
DNMT3B	TT6VZ78	Definitive	Biomarker	[37]
NRG1	TTEH395	Definitive	Genetic Variation	[38]
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⏷ Show the Full List of 43 DTT(s)

This Disease Is Related to 4 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
KCNK4	DTK2TVF	Limited	Altered Expression	[39]
ABCD1	DTKM9DZ	Supportive	Autosomal dominant	[11]
ATP7A	DT0LT17	Supportive	Autosomal dominant	[11]
SLC6A20	DT97OMP	moderate	Biomarker	[40]
------------------------------------------------------------------------------------

This Disease Is Related to 108 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARID1B	OTILK3Q7	Limited	Biomarker	[41]
ASCL1	OTI4X44G	Limited	Genetic Variation	[5]
C17orf107	OTOU43J4	Limited	Biomarker	[7]
CCDC66	OTE8VSSO	Limited	Altered Expression	[42]
CHRNE	OTGGXGGB	Limited	Biomarker	[7]
DSCAM	OTL7PRMK	Limited	Genetic Variation	[43]
FXYD1	OTNKT6GP	Limited	Altered Expression	[44]
FZD3	OTIWDN78	Limited	Biomarker	[45]
KCNG3	OTSQKEMV	Limited	Altered Expression	[46]
KCNG4	OT7AOD0Y	Limited	Altered Expression	[46]
MED12	OTQZ4D2X	Limited	Biomarker	[47]
NLRP6	OTEREN4W	Limited	Altered Expression	[48]
NOX5	OTHTH59G	Limited	Genetic Variation	[49]
NRSN1	OT1KKXC8	Limited	Biomarker	[3]
PLAGL2	OT6AP4V2	Limited	Biomarker	[50]
PTPRR	OT790UA2	Limited	Biomarker	[51]
RELN	OTLKMW1O	Limited	Biomarker	[30]
SCN1B	OTGD78J3	Limited	Altered Expression	[44]
TSGA13	OT81V4LS	Limited	Genetic Variation	[52]
ABCD1	OT3FL9W0	Supportive	Autosomal dominant	[11]
ATP7A	OTMR3GXP	Supportive	Autosomal dominant	[11]
ERBB2	OTOAUNCK	Supportive	Autosomal dominant	[8]
ERBB3	OTRSST0A	Supportive	Autosomal dominant	[8]
RET	OTLU040A	Supportive	Autosomal dominant	[9]
SMO	OTXXE208	Supportive	Autosomal dominant	[10]
SREBF1	OTWBRPAI	Supportive	Autosomal dominant	[11]
ADARB1	OTGKSZEV	moderate	Biomarker	[53]
ARNT2	OTAQD3YV	moderate	Altered Expression	[54]
AUTS2	OTAEXHSC	moderate	Biomarker	[55]
BANF1	OTP7Z38L	moderate	Biomarker	[41]
BBS2	OTPF9JIB	moderate	Genetic Variation	[56]
BMP5	OTC0Y6E0	moderate	Biomarker	[57]
CAVIN2	OTFHHDRU	moderate	Biomarker	[58]
CDX1	OTOHTMJE	moderate	Altered Expression	[59]
CELSR3	OT8P6QNJ	moderate	Altered Expression	[60]
COL6A1	OTYKSCOB	moderate	Biomarker	[61]
COL6A2	OTQC6PPO	moderate	Biomarker	[61]
CSGALNACT2	OT2SH7HJ	moderate	Genetic Variation	[62]
DOK6	OTX55OIF	moderate	Biomarker	[45]
DPF3	OTEWLMNB	moderate	Biomarker	[63]
DVL1	OTD67RF1	moderate	Biomarker	[64]
DVL2	OTMNYNCM	moderate	Altered Expression	[65]
DVL3	OTPRROHJ	moderate	Biomarker	[64]
EDN3	OTN7Q9BE	moderate	Genetic Variation	[66]
EIF4A3	OTYYFE7K	moderate	Altered Expression	[67]
FABP7	OTRE2H4G	moderate	Biomarker	[68]
FGD2	OTQBDP2E	moderate	Biomarker	[69]
GFRA2	OT34CXNN	moderate	Genetic Variation	[70]
HAND2	OTCXYW4Y	moderate	Biomarker	[71]
IARS2	OTDX4SCA	moderate	Altered Expression	[72]
INMT	OT5NWOZH	moderate	Genetic Variation	[73]
ITIH5	OTP46PZM	moderate	Biomarker	[74]
ITPKC	OT73T6T6	moderate	Genetic Variation	[75]
KCNJ12	OTYN1E1R	moderate	Biomarker	[69]
MITF	OT6XJCZH	moderate	Genetic Variation	[76]
MNX1	OTXP9FH1	moderate	Genetic Variation	[77]
NKX2-1	OTCMEJTA	moderate	Biomarker	[78]
NLGN2	OTHDYL3H	moderate	Altered Expression	[79]
NLGN3	OTKDEC1Q	moderate	Genetic Variation	[80]
PAX3	OTN5PJZV	moderate	Biomarker	[58]
PCDH9	OTX3BFV4	moderate	Biomarker	[81]
PCDHA9	OTMDYFZR	moderate	Biomarker	[81]
PIGA	OT51UWUR	moderate	Biomarker	[82]
PIGO	OTGDOBO1	moderate	Biomarker	[82]
PLEK	OTB73XXA	moderate	Biomarker	[83]
RASGEF1A	OT88HCDY	moderate	Genetic Variation	[62]
RBP3	OTIWM4GT	moderate	Genetic Variation	[84]
RBPMS2	OTY24L1F	moderate	Altered Expression	[85]
RYR3	OT4EHIP4	moderate	Altered Expression	[86]
SEMA3C	OTEGUY7F	moderate	Biomarker	[87]
SEMA3D	OTD5TJV1	moderate	Genetic Variation	[88]
SIGLEC8	OTQ5TRRV	moderate	Altered Expression	[72]
SIM2	OT0QWHK4	moderate	Altered Expression	[54]
STMN2	OT0FUHLH	moderate	Biomarker	[89]
SUFU	OT0IRYG1	moderate	Genetic Variation	[90]
SVEP1	OTOBICRD	moderate	Biomarker	[91]
TCF4	OTB9ASTK	moderate	Biomarker	[92]
TCOF1	OT4BOYTM	moderate	Biomarker	[93]
ABHD1	OTY56U02	Strong	Genetic Variation	[33]
ACTR2	OT3C8U5T	Strong	Biomarker	[6]
AEBP2	OTOAZJ55	Strong	Biomarker	[94]
ANGPTL2	OTB6JG41	Strong	Biomarker	[6]
ARTN	OTWIWGL6	Strong	Biomarker	[95]
DNTT	OTFSEF12	Strong	Biomarker	[96]
ELP1	OTYEWBF7	Strong	Genetic Variation	[97]
GFRA1	OT3WBVYB	Strong	Biomarker	[7]
IHH	OT1DWGXC	Strong	Biomarker	[98]
KIFBP	OT1XADKG	Strong	Altered Expression	[99]
KIR2DS4	OT00N6UJ	Strong	Genetic Variation	[33]
KIR3DL1	OTPOSXFX	Strong	Genetic Variation	[33]
LRSAM1	OTOKWR6C	Strong	Altered Expression	[100]
NID1	OTKLBLS6	Strong	Biomarker	[101]
NLGN1	OTGHRRFQ	Strong	Altered Expression	[79]
NRTN	OT4PAKUY	Strong	Biomarker	[95]
PGP	OT6QQ7OR	Strong	Biomarker	[102]
PIGV	OTI6LT46	Strong	Genetic Variation	[103]
PROK1	OT8S7RUG	Strong	Genetic Variation	[5]
PSPN	OT54LLZJ	Strong	Genetic Variation	[95]
RIMBP2	OTUNSVUJ	Strong	Genetic Variation	[33]
SNRNP70	OTP52YZ3	Strong	Genetic Variation	[104]
TLX3	OTBUHHK3	Strong	Genetic Variation	[105]
TRAF3IP2	OTLLZERL	Strong	Altered Expression	[106]
GEMIN2	OT4L6TLL	Definitive	Biomarker	[36]
GFRA4	OTOLGKQM	Definitive	Posttranslational Modification	[107]
HOXB5	OTU74TB8	Definitive	Biomarker	[108]
NRG3	OTIFZ5CT	Definitive	Genetic Variation	[109]
SCAF11	OTX59D0X	Definitive	Biomarker	[36]
SOX10	OTF25ULQ	Definitive	Posttranslational Modification	[110]
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⏷ Show the Full List of 108 DOT(s)

References

1	Molecular analysis of congenital central hypoventilation syndrome.Hum Genet. 2003 Dec;114(1):22-6. doi: 10.1007/s00439-003-1036-z. Epub 2003 Oct 18.
2	Down syndrome mouse models have an abnormal enteric nervous system.JCI Insight. 2019 Apr 18;5(11):e124510. doi: 10.1172/jci.insight.124510.
3	Common genetic variants in GAL, GAP43 and NRSN1 and interaction networks confer susceptibility to Hirschsprung disease.J Cell Mol Med. 2018 Jul;22(7):3377-3387. doi: 10.1111/jcmm.13612. Epub 2018 Apr 14.
4	A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease.Ann Hum Genet. 2009 Jan;73(1):19-25. doi: 10.1111/j.1469-1809.2008.00479.x. Epub 2008 Oct 20.
5	Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.J Hum Genet. 2012 Aug;57(8):485-93. doi: 10.1038/jhg.2012.54. Epub 2012 May 31.
6	MPGES-1 derived PGE2 inhibits cell migration by regulating ARP2/3 in the pathogenesis of Hirschsprung disease.J Pediatr Surg. 2019 Oct;54(10):2032-2037. doi: 10.1016/j.jpedsurg.2019.01.001. Epub 2019 Feb 24.
7	Familial chronic megacolon presenting in childhood or adulthood: Seeking the presumed gene association.Neurogastroenterol Motil. 2019 Apr;31(4):e13550. doi: 10.1111/nmo.13550. Epub 2019 Jan 20.
8	Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans. J Clin Invest. 2021 Mar 15;131(6):e145837. doi: 10.1172/JCI145837.
9	Hirschsprung disease: Insights on genes, penetrance, and prenatal diagnosis. Neurogastroenterol Motil. 2019 Nov;31(11):e13732. doi: 10.1111/nmo.13732.
10	Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. Am J Hum Genet. 2020 Jun 4;106(6):779-792. doi: 10.1016/j.ajhg.2020.04.010. Epub 2020 May 14.
11	A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease. PLoS Genet. 2020 Nov 5;16(11):e1009106. doi: 10.1371/journal.pgen.1009106. eCollection 2020 Nov.
12	Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development.Gastroenterology. 2018 Dec;155(6):1908-1922.e5. doi: 10.1053/j.gastro.2018.09.012. Epub 2018 Sep 12.
13	BMP10 suppresses hepatocellular carcinoma progression via PTPRS-STAT3 axis.Oncogene. 2019 Nov;38(48):7281-7293. doi: 10.1038/s41388-019-0943-y. Epub 2019 Aug 15.
14	Reduction of hydrogen sulfide synthesis enzymes cystathionine--synthase and cystathionine--lyase in the colon of patients with Hirschsprungs disease.J Pediatr Surg. 2018 Mar;53(3):525-530. doi: 10.1016/j.jpedsurg.2017.06.011. Epub 2017 Jun 23.
15	Aberrant reduction of MiR-141 increased CD47/CUL3 in Hirschsprung's disease.Cell Physiol Biochem. 2013;32(6):1655-67. doi: 10.1159/000356601. Epub 2013 Dec 5.
16	A gene regulatory network explains RET-EDNRB epistasis in Hirschsprung disease.Hum Mol Genet. 2019 Sep 15;28(18):3137-3147. doi: 10.1093/hmg/ddz149.
17	Treatment of aganglionic megacolon mice via neural stem cell transplantation.Mol Neurobiol. 2013 Dec;48(3):429-37. doi: 10.1007/s12035-013-8430-x. Epub 2013 Mar 20.
18	Long none coding RNA HOTTIP/HOXA13 act as synergistic role by decreasing cell migration and proliferation in Hirschsprung disease.Biochem Biophys Res Commun. 2015 Aug 7;463(4):569-74. doi: 10.1016/j.bbrc.2015.05.096. Epub 2015 Jun 2.
19	Altered expression of IL36 and IL36 receptor (IL1RL2) in the colon of patients with Hirschsprung's disease.Pediatr Surg Int. 2017 Feb;33(2):181-186. doi: 10.1007/s00383-016-4011-1. Epub 2016 Nov 16.
20	Downregulation of Notch-1/Jagged-2 in human colon tissues from Hirschsprung disease patients.Int J Colorectal Dis. 2012 Jan;27(1):37-41. doi: 10.1007/s00384-011-1295-4. Epub 2011 Sep 3.
21	A lack of intestinal pacemaker (c-kit) in aganglionic bowel of patients with Hirschsprung's disease.J Pediatr Surg. 1995 Mar;30(3):441-4. doi: 10.1016/0022-3468(95)90051-9.
22	A Novel Zebrafish ret Heterozygous Model of Hirschsprung Disease Identifies a Functional Role for mapk10 as a Modifier of Enteric Nervous System Phenotype Severity.PLoS Genet. 2016 Nov 30;12(11):e1006439. doi: 10.1371/journal.pgen.1006439. eCollection 2016 Nov.
23	Down-regulation of circ-PRKCI inhibits cell migration and proliferation in Hirschsprung disease by suppressing the expression of miR-1324 target PLCB1.Cell Cycle. 2018;17(9):1092-1101. doi: 10.1080/15384101.2018.1480210. Epub 2018 Jul 9.
24	Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.PLoS One. 2011;6(8):e23475. doi: 10.1371/journal.pone.0023475. Epub 2011 Aug 12.
25	Appendicular Biopsy in Total Colonic Aganglionosis: A Histologically Challenging and Inadvisable Practice.Pediatr Dev Pathol. 2017 Jul-Aug;20(4):277-287. doi: 10.1177/1093526617692913. Epub 2017 Jan 1.
26	Long non-coding RNA LOC100507600 functions as a competitive endogenous RNA to regulate BMI1 expression by sponging miR128-1-3p in Hirschsprung's disease.Cell Cycle. 2018;17(4):459-467. doi: 10.1080/15384101.2017.1403688. Epub 2018 Feb 12.
27	Muscularis inflammation and the loss of interstitial cells of Cajal in the endothelin ETB receptor null rat.Am J Physiol Gastrointest Liver Physiol. 2004 Sep;287(3):G638-46. doi: 10.1152/ajpgi.00077.2004. Epub 2004 Apr 29.
28	Exome-Wide Association Study Identified New Risk Loci for Hirschsprung's Disease.Mol Neurobiol. 2017 Apr;54(3):1777-1785. doi: 10.1007/s12035-016-9752-2. Epub 2016 Feb 18.
29	A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.Am J Hum Genet. 1999 Jan;64(1):304-8. doi: 10.1086/302184.
30	Contribution of Common Variants in GABRG2, RELN and NRG3 and Interaction Networks to the Risk of Hirschsprung Disease.Cell Physiol Biochem. 2016;40(3-4):509-526. doi: 10.1159/000452565. Epub 2016 Nov 25.
31	GT-repeat extension in the IL11 promoter is associated with Hirschsprung's disease (HSCR).Gene. 2018 Nov 30;677:163-168. doi: 10.1016/j.gene.2018.07.054. Epub 2018 Jul 26.
32	The impact of down-regulated SK3 expressions on Hirschsprung disease.BMC Med Genet. 2018 Feb 13;19(1):24. doi: 10.1186/s12881-018-0539-3.
33	Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.Proc Natl Acad Sci U S A. 2009 Feb 24;106(8):2694-9. doi: 10.1073/pnas.0809630105. Epub 2009 Feb 5.
34	Differential expression of FOXA1, DUSP6, and HA117 in colon segments of Hirschsprung's disease.Int J Clin Exp Pathol. 2015 Apr 1;8(4):3979-86. eCollection 2015.
35	Increased expression of Semaphorin 3A in the endothelin receptor-B null mouse model of Hirschsprung disease.J Pediatr Surg. 2018 Feb;53(2):326-329. doi: 10.1016/j.jpedsurg.2017.11.034. Epub 2017 Nov 14.
36	Mutations in Smad-interacting protein 1 gene are responsible for absence of its expression in Hirschsprung's disease.Clin Exp Med. 2018 Aug;18(3):445-451. doi: 10.1007/s10238-018-0496-3. Epub 2018 Mar 29.
37	Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease.Sci Rep. 2017 Jul 24;7(1):6221. doi: 10.1038/s41598-017-06539-8.
38	Combined Genetic Effects of RET and NRG1 Susceptibility Variants on Multifactorial Hirschsprung Disease in Indonesia.J Surg Res. 2019 Jan;233:96-99. doi: 10.1016/j.jss.2018.07.067. Epub 2018 Aug 17.
39	Decreased expression of TRAAK channels in Hirschsprung's disease: a possible cause of postoperative dysmotility.Pediatr Surg Int. 2019 Dec;35(12):1431-1435. doi: 10.1007/s00383-019-04572-4. Epub 2019 Sep 21.
40	Association Analysis of SLC6A20 Polymorphisms With Hirschsprung Disease.J Pediatr Gastroenterol Nutr. 2016 Jan;62(1):64-70. doi: 10.1097/MPG.0000000000000880.
41	Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation.Am J Med Genet A. 2016 Dec;170(12):3249-3252. doi: 10.1002/ajmg.a.37861. Epub 2016 Aug 11.
42	Circular RNA CCDC66 targets DCX to regulate cell proliferation and migration by sponging miR-488-3p in Hirschsprung's disease.J Cell Physiol. 2019 Jul;234(7):10576-10587. doi: 10.1002/jcp.27733. Epub 2018 Nov 15.
43	Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population.BMC Med Genet. 2018 Jul 13;19(1):116. doi: 10.1186/s12881-018-0637-2.
44	Abnormal Scn1b and Fxyd1 gene expression in the pulled-through ganglionic colon may influence functional outcome in patients with Hirschsprung's disease.Pediatr Surg Int. 2019 Jan;35(1):9-14. doi: 10.1007/s00383-018-4370-x. Epub 2018 Nov 1.
45	Preliminary identification of key miRNAs, signaling pathways, and genes associated with Hirschsprung's disease by analysis of tissue microRNA expression profiles.World J Pediatr. 2017 Oct;13(5):489-495. doi: 10.1007/s12519-017-0064-z. Epub 2017 Sep 30.
46	Altered expression of KCNG3 and KCNG4 in Hirschsprung's disease.Pediatr Surg Int. 2019 Feb;35(2):193-197. doi: 10.1007/s00383-018-4394-2. Epub 2018 Nov 1.
47	Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.Am J Med Genet A. 2014 Jul;164A(7):1821-5. doi: 10.1002/ajmg.a.36539. Epub 2014 Apr 8.
48	Reduced expression of the NLRP6 inflammasome in the colon of patients with Hirschsprung's disease.J Pediatr Surg. 2019 Aug;54(8):1573-1577. doi: 10.1016/j.jpedsurg.2018.08.059. Epub 2018 Sep 7.
49	Association analysis of NOX5 polymorphisms with Hirschsprung disease.J Pediatr Surg. 2019 Sep;54(9):1815-1819. doi: 10.1016/j.jpedsurg.2018.12.017. Epub 2019 Jan 3.
50	PLAGL2 promotes epithelial-mesenchymal transition and mediates colorectal cancer metastasis via -catenin-dependent regulation of ZEB1.Br J Cancer. 2020 Feb;122(4):578-589. doi: 10.1038/s41416-019-0679-z. Epub 2019 Dec 12.
51	Downregulation of Protein Tyrosine Phosphatase Receptor Type R Accounts for the Progression of Hirschsprung Disease.Front Mol Neurosci. 2019 Apr 10;12:92. doi: 10.3389/fnmol.2019.00092. eCollection 2019.
52	Potential association between TSGA13 variants and risk of total colonic aganglionosis in Hirschsprung disease.Gene. 2019 Aug 20;710:240-245. doi: 10.1016/j.gene.2019.06.007. Epub 2019 Jun 7.
53	Lipopolysaccharide enhances ADAR2 which drives Hirschsprung's disease by impairing miR-142-3p biogenesis.J Cell Mol Med. 2018 Sep;22(9):4045-4055. doi: 10.1111/jcmm.13652. Epub 2018 Jun 29.
54	Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression.Gastroenterology. 2011 Feb;140(2):572-582.e2. doi: 10.1053/j.gastro.2010.10.044. Epub 2010 Oct 25.
55	Association of NRG1 and AUTS2 genetic polymorphisms with Hirschsprung disease in a South Chinese population.J Cell Mol Med. 2018 Apr;22(4):2190-2199. doi: 10.1111/jcmm.13498. Epub 2018 Jan 29.
56	Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13921-6. doi: 10.1073/pnas.0901219106. Epub 2009 Jul 31.
57	Expression analysis of BMP2, BMP5, BMP10 in human colon tissues from Hirschsprung disease patients.Int J Clin Exp Pathol. 2014 Jan 15;7(2):529-36. eCollection 2014.
58	Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease.Orphanet J Rare Dis. 2019 Jan 7;14(1):5. doi: 10.1186/s13023-018-0973-5.
59	CDX-1 and CDX-2 are expressed in human colonic mucosa and are down-regulated in patients with Hirschsprung's disease associated enterocolitis.Biochim Biophys Acta. 2001 Sep 28;1537(2):89-100. doi: 10.1016/s0925-4439(01)00056-4.
60	Deregulation of the planar cell polarity genes CELSR3 and FZD3 in Hirschsprung disease.Exp Mol Pathol. 2016 Oct;101(2):241-248. doi: 10.1016/j.yexmp.2016.09.003. Epub 2016 Sep 13.
61	A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease.J Clin Invest. 2015 Dec;125(12):4483-96. doi: 10.1172/JCI83178. Epub 2015 Nov 16.
62	A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.PLoS One. 2014 Oct 13;9(10):e110292. doi: 10.1371/journal.pone.0110292. eCollection 2014.
63	Expression profiles of HA117 and its neighboring gene DPF3 in different colon segments of Hirschsprung's disease.Int J Clin Exp Pathol. 2014 Jun 15;7(7):3966-74. eCollection 2014.
64	Expression of dishevelled gene in Hirschsprung's disease.Int J Clin Exp Pathol. 2013 Aug 15;6(9):1791-8. eCollection 2013.
65	Expression patterns of dishevelled-2 in different colon tissue segments in Hirschsprung's disease.Mol Med Rep. 2015 Mar;11(3):2092-6. doi: 10.3892/mmr.2014.2932. Epub 2014 Nov 12.
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