Hirschsprung's Disease malady

NIH Rare Diseases: Hirschsprung disease is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to expel stools from the body normally. Symptoms of Hirschsprung disease usually show up in very young children, but sometimes not until adolescence or adulthood. The symptoms may vary with age, but often involve constipation and/or obstruction of the bowel.³⁰

MalaCards: Hirschsprung's Disease, also known as hirschsprung disease, is related to colonic aganglionosis and multiple endocrine neoplasia type 2a. An important gene associated with Hirschsprung's Disease is RET (ret proto-oncogene), and among its related pathways are Development GDNF family signaling and Development_GDNF family signaling. The compounds carbachol and catecholamine have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, colon and kidney, and related mouse phenotypes are other and limbs/digits/tail.

Genetics Home Reference: 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.¹⁷

OMIM: 142623

GeneReviews summary for hirschsprung-ov

Aliases & Descriptions:

hirschsprung's disease 6 30 hirschsprung disease 7 15 16 17 32 43 aganglionic megacolon 6 15 30 16 17 hscr 15 30 16 17 hirschsprung disease 1 30 33 hirschsprung's disease nos (disorder) 6 congenital intestinal aganglionosis 17 hirschsprung's disease (disorder) 6 congenital megacolon (disorder) 6

hirschsprung disease type 1 30 neonatal hemochromatosis 43 hirschsprungs disease 8 macrocolon (disorder) 6 pelvirectal achalasia 6 congenital megacolon 17 aganglionosis 6 macrocolon 6 hscr 1 30

Disease types for hirschsprung's disease family:

hirschsprung disease type 2	hirschsprung disease type 3
hirschsprung disease 9	hirschsprung disease 8
hirschsprung disease 7	hirschsprung disease 5
hirschsprung disease 6	hirschsprung disease 4

Diseases related to hirschsprung's disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 590)

id	Related Disease	Score	Top Affiliating Genes
1	colonic aganglionosis	33.4	RET, NRTN, EDN3, EDNRB, ACHE, SYP
2	multiple endocrine neoplasia type 2a	33.3	RET, CALCA, GFRA1, GDNF
3	megacolon	33.3	KIAA1279, VIP, BLVRB, HOXA4, NRTN, EDN3
4	multiple endocrine neoplasia	33.0	RET, GCG, VIP, CHGA, GNAS, CALCA
5	familial medullary thyroid carcinoma	32.6	RET, CALCA, GDNF
6	hirschsprung disease, cardiac defects, and autonomic dysfunction	32.3	MME, MMEL1, PHEX, ECE1
7	hydrocephalus	31.8	VIP, BDNF, L1CAM, PYY, NTF3, NOS1
8	waardenburg syndrome type 4	31.8	EDN3, EDNRB, SOX10
9	hirschsprung disease, short-segment	31.8	HSCRS3, HSCRS2, PHOX2B
10	congenital central hypoventilation syndrome	31.4	RET, BDNF, PHOX2B, EDN3, EDNRB
11	waardenburg's syndrome	31.3	RET, KIT, PAX3, ASS1, MITF, EDN3
12	central hypoventilation syndrome	31.1	RET, BDNF, GRP, PHOX2B, EDN3, EDNRB
13	mental retardation syndrome	30.3	VIP, BDNF, ZEB2, L1CAM, GNAS, NTRK1
14	achalasia	30.2	RET, VIP, BLVRB, GRP, ENO2, NOS1
15	shah-waardenburg syndrome	29.7	RET, MITF, EDN3, EDNRB, SOX10
16	microcephaly	29.4	KIAA1279, ZEB2, LAMA2, L1CAM, MNX1, GJA1
17	intestinal pseudo-obstruction	29.2	RET, L1CAM, SST, EDN3, EDNRB, ACHE
18	hereditary sensory neuropathy	28.7	BDNF, IKBKAP, NTRK1, NGFR
19	esophageal atresia	28.4	VIP, CHGA, GRP, ENO2, CALCA, NPY
20	autonomic dysfunction	28.4	BDNF, UCHL1, MME, MMEL1, PHEX, PHOX2B
21	coronary artery anomaly	27.7	GCG, BDNF, BCHE, ITGB2, NOS1, EDN1
22	constipation	27.3	NCAM1, RET, KIT, VIP, CHGA, S100B
23	congenital heart defect	27.2	GCG, BBS2, IKBKAP, CALCA, GJA1, EDN1
24	wilms tumor	27.0	NCAM1, RET, PAX3, BDNF, BCL2, CHGA
25	down syndrome	26.4	NCAM1, RET, VIP, NAPG, BDNF, KCNN3
26	thyroid carcinoma	26.4	NCAM1, RET, KIT, VIP, BCL2, CHGA
27	papillary thyroid carcinoma	25.1	RET, BCL2, ITGB1, CALCA, SST, NTRK1
28	thyroiditis	24.6	NCAM1, RET, KIT, PCK1, GCG, VIP
29	neuropathy	23.1	NCAM1, GCG, VIP, BDNF, BCHE, CHGA
30	neuronitis	21.3	NCAM1, RET, KIT, PCK1, GCG, SEMA3A
31	carcinoma	19.4	NCAM1, RET, KIT, GCG, SEMA3A, VIP
32	intestinal obstruction	14.1	RET, NRTN, EDN3, EDNRB, ACHE, SOX10
33	waardenburg syndrome type 2	14.0	PAX3, MITF, EDN3, EDNRB, SOX10
34	hypertrophic pyloric stenosis	13.8	BLVRB, S100B, HMOX2, NOS1, NGFR, GDNF
35	brain malformations	13.8	L1CAM, GLUL, CTSD, SYP
36	ovarian small cell carcinoma	13.8	CALB2, TTF1, NKX2-1
37	pyloric stenosis	13.8	NCAM1, BLVRB, S100B, HMOX2, NOS1, NGFR
38	sacrococcygeal teratoma	13.8	RET, MNX1, GFAP, GDNF
39	gastric small cell carcinoma	13.7	NCAM1, CHGA, ENO2, SYP
40	ovarian sex cord tumors	13.7	MME, ENO2, CALB2, SYP
41	supratentorial neoplasm	13.7	CHGA, ENO2, SYP
42	fetal alcohol syndrome	13.7	VIP, L1CAM, CALB2, GFAP
43	peripheral neuroblastoma	13.7	CHGA, S100B, SYP
44	pulmonary blastoma	13.7	TTF1, SYP, NKX2-1
45	sex cord-gonadal stromal tumor	13.7	S100B, CALB2, NPY, NKX2-1
46	autonomic neuropathy	13.6	GCG, IKBKAP, NTF3, NTRK1, NGFR, NPY
47	lentigo maligna melanoma	13.6	S100B, MITF, NKX2-1
48	epithelioid malignant peripheral nerve sheath tumor	13.6	CHGA, S100B, NGFR
49	pulmonary sclerosing hemangioma	13.6	CHGA, ENO2, SYP, NKX2-1
50	central neurocytoma	13.6	CHGA, GFAP, SYP

Clinical features from OMIM: 142623

Approved drugs:

Drug clinical trials:

Genetic tests related to hirschsprung's disease:

id	Genetic test	Affiliating Genes
1	Hirschsprung's Disease clinical/research	RET, ATF1, ATF2, NRTN, EDN3, EDNRB, ECE1, GDNF

MalaCards organs/tissues related to hirschsprung's disease:

²²

MGI Mouse Phenotypes related to hirschsprung's disease:

²⁵ (show all 25)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	other phenotype	MP:0005395	9.1	NID1, NOS1, GJA1, MME, ITGB1, LAMA5
2	limbs/digits/tail phenotype	MP:0005371	8.5	HOXA9, HOXD9, NTRK1, PHEX, NGFR, EDNRB
3	embryogenesis phenotype	MP:0005380	8.4	EDN3, EDNRB, GFRA1, STX1A, PRMT1, SOX10
4	endocrine/exocrine gland phenotype	MP:0005379	8.3	HOXA9, HOXD9, GJA1, NRG1, NRTN, GFRA4
5	pigmentation phenotype	MP:0001186	8.1	EDN3, EDNRB, AEBP2, SOX10, ECE1, NTRK1
6	reproductive system phenotype	MP:0005389	7.8	HOXA13, HOXA9, GJA1, NRG1, NRTN, ACHE
7	renal/urinary system phenotype	MP:0005367	7.5	HOXA13, HOXD9, PHEX, NGFR, EDNRB, GFRA1
8	skeleton phenotype	MP:0005390	7.1	HOXA13, HOXA4, HOXB7, HOXD9, GJA1, PYY
9	muscle phenotype	MP:0005369	6.0	EDN1, NGFR, NID1, NOS1, NRTN, EDNRB
10	immune system phenotype	MP:0005387	5.5	NRTN, NRP1, NTRK1, CTSD, SST, NOS1
11	cardiovascular system phenotype	MP:0005385	3.7	PHOX2B, NID1, NOS1, NRP1, NRG1, NTRK3
12	cellular phenotype	MP:0005384	INF	NID1, NOS1, NRP1, NRG1, CTSD, GJA1
13	behavior/neurological phenotype	MP:0005386	INF	NID1, STX1A, SOX10, NPY, NKX2-1, ADCYAP1
14	normal phenotype	MP:0002873	INF	NOS1, NTRK3, NTRK1, NTF3, SST, PYY
15	digestive/alimentary phenotype	MP:0005381	INF	EDN3, GDNF, ECE1, EDNRB, AEBP2, GFAP
16	hearing/vestibular/ear phenotype	MP:0005377	INF	NTRK1, NTRK3, PHEX, NGFR, EDN1, EDNRB
17	homeostasis/metabolism phenotype	MP:0005376	INF	MITF, NRG1, NOS1, PHEX, PHOX2B, NGFR
18	mortality/aging	MP:0010768	INF	UCHL1, LAMA1, LAMA2, LAMA5, L1CAM, AXIN2
19	integument phenotype	MP:0010771	INF	PCK1, PAX3, , BCL2, KCNN2, BBS2
20	respiratory system phenotype	MP:0005388	INF	HMOX2, NTF3, NOS1, PHOX2B, ACHE, DHCR7
21	no phenotypic analysis	MP:0003012	INF	SST, NTRK1, EDNRB, ACHE, SYP, STX1A
22	nervous system phenotype	MP:0003631	INF	GEMIN2, GDNF, KIT, IKBKAP, IHH, CALB2
23	growth/size phenotype	MP:0005378	INF	HOXA13, PHOX2B, NGFR, EDNRB, ACHE, AEBP2
24	craniofacial phenotype	MP:0005382	INF	NRP1, GJA1, GNAS, IHH, PHEX, NGFR
25	vision/eye phenotype	MP:0005391	INF	, BCL2, ZEB2, BBS2, LAMA1, L1CAM

Articles related to hirschsprung's disease:

(show top 50)    (show all 320)

id	Title	Authors	Year	Affiliating Genes
1	Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene. (22344793)	Fernandez R.M.... Borrego S.	2012	L1CAM
2	Reduced RET expression in gut tissue of individuals c arrying risk alleles of Hirschsprung's disease. (20089534)	Miao X.... Garcia-BarcelA^ M.	2010	RET
3	Polymorphisms of the RET gene in hirschsprung disease , anorectal malformation and intestinal pseudo-obstruction in Taiwan. (20123584)	Wu T.T.... Li C.	2010	RET
4	Severe clinical course of Hirschsprung disease in a M owat-Wilson syndrome patient. (20145308)	Smigiel R.... Patkowski D.	2010	ZEB2
5	A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease. (19040714)	FernA!ndez R.M.... Borrego S.	2009	NTRK3
6	Hirschsprung's disease: the 'Swiss roll' te chnique revisited. (19521706)	Osterheld M.C.... Meyrat B.J.	2009	ACHE
7	Studies of RET gene expression and acetylcholinesterase activity in a series of sporadic Hirschsprung's disease. (18665368)	Coelho M.C.... Santos M.M.	2008	RET, ACHE
8	Uncommon causes of postoperative chronic diarrhoea mimicking enterocolitis in Hirschsprung's disease: is there a role for digestive endoscopy? (18026735)	Pini Prato A.... Jasonni V.	2008	SI
9	Coding-sequence point mutation and polymorphism analyses of SIP1 gene in Hirschsprung disease (18247312)	Gao H.... Huang Y.	2008	ZEB2, GEMIN2
10	A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease. (16986122)	Griseri P.... Ceccherini I.	2007	RET
11	Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease. (17397038)	de Pontual L.... Amiel J.	2007	RET
12	Evaluation of the thyroid transcription factor-1 gene (TITF1) as a Hirschsprung's disease locus. (17640327)	Garcia-Barcelo M.M.... Tam P.K.	2007	RET, NKX2-1
13	Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype. (16877807)	Smigiel R.... Sasiadek M.M.	2006	RET
14	Coding-sequence mutation and polymorphism analysis of EDNRB gene in patients with Hirschsprung's disease from Zhejiang region (16944573)	Zhou M.N.... Ding S.P.	2006	EDNRB
15	Genome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung disease. (15843399)	Owens S.E.... Southard-Smith E.M.	2005	SOX10
16	The combination of Hirschsprung's disease and achalasia. (15750914)	Kohler S.... Holland-Cunz S.	2005	RET
17	Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan. (15834508)	Wu T.T.... Li C.	2005	RET, EDNRB
18	Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease. (15294878)	Cantrell V.A.... Southard-Smith E.M.	2004	EDNRB, ECE1, EDN3
19	Synaptophysin expression abnormalities in Hirschsprung's disease (15738866)	Corsois L.... Boccon-Gibod L.	2004	ACHE, SYP
20	Rescue of human RET gene expression by sodium butyrate: a novel powerful tool for molecular studies in Hirschsprung disease. (12865274)	Griseri P.... Ceccherini I.	2003	RET
21	Is there a role for the IHH gene in Hirschsprung's disease? (14651602)	Garcia-Barcelo M.M.... Tam P.K.	2003	IHH
22	SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants. (11454798)	Sham M.H.... Tam P.K.	2001	SOX10
23	CDX-1 and CDX-2 are expressed in human colonic mucosa and are down-regulated in patients with Hirschsprung's disease associated enterocolitis. (11566252)	Lui V.C.... Tam P.K.	2001	CDX1
24	Altered immunoreactivity of HPC-1/syntaxin 1A in proliferated nerve fibers in the human aganglionic colon of Hirschsprung's disease. (11345516)	Nirasawa Y.... Akagawa K.	2001	STX1A, NAPG
25	Prediction of the outcome of pull-through surgery for Hirschsprung's disease using acetylcholinesterase activity. (11802518)	Huang S.F.... Lai H.S.	2001	ACHE
26	Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13. (11484199)	Shanske A.... Marion R.W.	2001	EDNRB
27	Incidence of RET mutations in patients with Hirschsprung's disease. (10646792)	Sancandi M.... Tam P.K.	2000	RET
28	The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease. (10921886)	Bordeaux M.C.... Mehlen P.	2000	RET, GDNF
29	Altered endothelin-3 and endothelin-B receptor mRNA expression in Hirschsprung's disease. (10466607)	Oue T.... Puri P.	1999	EDNRB, EDN3
30	Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function? (10220148)	Takahashi M.... Billaud M.	1999	RET, GFRA1, ARTN
31	Diagnosis of hirschsprung disease using the rectal biopsy: multi-institutional survey. (10508885)	Qualman S.J.... Monforte-MuA+oz H.	1999	ACHE
32	Reduced glial cell line-derived neurotrophic factor level in aganglionic bowel in Hirschsprung's disease. (9660226)	Ohshiro K.... Puri P.	1998	GDNF
33	Genomic structure of the gene for the SH2 and pleckstrin homology domain-containing protein GRB10 and evaluation of its role in Hirschsprung disease. (9881709)	Angrist M.... Chakravarti A.	1998	GDNF, GRB10
34	Hirschsprung's disease genes and the development of the enteric nervous system. (9556091)	Wartiovaara K.... Sariola H.	1998	EDNRB
35	Mechanisms of development of multiple endocrine neopl asia type 2 and Hirschsprung's disease by ret mutations. (10027003)	Takahashi M.... Ito S.	1998	RET
36	Altered mRNA expression of the neuronal nitric oxide synthase gene in Hirschsprung's disease. (9247233)	Kusafuka T.... Puri P.	1997	NOS1
37	Glial-derived neurotrophic factor in human adult and fetal intestine and in Hirschsprung's disease. (9098026)	Bar K.J.... Anand P.	1997	GDNF
38	Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease. (9067749)	Eng C.... Mulligan L.M.	1997	RET
39	Frequency of RET mutations in long- and short-segment Hirschsprung disease. (9090527)	Seri M.... Romeo G.	1997	RET
40	Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. (8896569)	Salomon R.... Lyonnet S.	1996	GDNF
41	Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease. (8852658)	Kusafuka T.... Puri P.	1996	EDNRB
42	Abnormal internal anal sphincter innervation in patients with Hirschsprung's disease and allied disorders. (8783106)	Kobayashi H.... Puri P.	1996	BLVRB
43	NADPH-diaphorase histochemistry: a reliable test for the intraoperative diagnosis of Hirschsprung's disease. (8943120)	Kobayashi H.... Puri P.	1996	BLVRB
44	Mutational analysis of multiple endocrine neoplasia t ype 2A associated with Hirschsprung's disease. (7716719)	Borst M.J.... Decker R.A.	1995	NRP1
45	Lack of expression of NADPH-diaphorase and neural cell adhesion molecule (NCAM) in colonic muscle of patients with Hirschsprung's disease. (8176609)	Kobayashi H.... Puri P.	1994	NCAM1, BLVRB
46	Mutations of the RET proto-oncogene in Hirschsprung's disease. (8114939)	Edery P.... Munnich A.	1994	RET
47	Immunocytochemistry for neuronal markers shows deficiencies in conventional histology in the treatment of Hirschsprung's disease. (7693908)	Romanska H.M.... Polak J.M.	1993	S100A12
48	Regional reduction in intestinal neuroendocrine cell populations in enterocolitis complicating Hirschsprung's disease. (7901360)	Soeda J.... Puri P.	1993	SST, SYP, GCG
49	Immunocytochemical characterization of supporting cells in the enteric nervous system in Hirschsprung's disease. (1972188)	Kato H.... Iwasaki Y.	1990	S100B, GLUL, GFAP
50	Hirschsprung disease: a genetic study. (2934185)	Garver K.L.... Garver B.	1985	HSCR5

Genes related to hirschsprung's disease according to GeneCards:

(show top 50)    (show all 105)

id	Symbol	Description	Score	GeneCards Section Context
1	RET	ret proto-oncogene	11.1	Summaries, UniProt Related, Publications, Aliases & Descriptions
2	HSCR5	Hirschsprung disease, susceptibility to, 5	11.1	Publications, Aliases & Descriptions, Disorders, Summaries
3	EDNRB	endothelin receptor type B	11.1	Summaries, Publications
4	GDNF	glial cell derived neurotrophic factor	11.1	Publications, Summaries
5	EDN3	endothelin 3	11.1	Publications, Summaries
6	ECE1	endothelin converting enzyme 1	11.1	Summaries, Publications
7	HSCRS3	Hirschsprung disease, short-segment, 3	11.1	Aliases & Descriptions
8	HSCRS2	Hirschsprung disease, short-segment, 2	11.1	Aliases & Descriptions
9	NRTN	neurturin	11.1	Summaries, Publications, Functions
10	HSCR9	Hirschsprung disease, susceptibility to, 9	11.1	Aliases & Descriptions
11	HSCRM2	Hirschsprung disease modifier 2	11.1	Publications, Aliases & Descriptions
12	SOX10	SRY (sex determining region Y)-box 10	11.1	Summaries, Publications
13	ZEB2	zinc finger E-box binding homeobox 2	11.1	Summaries, Publications
14	GFRA1	GDNF family receptor alpha 1	11.1	Functions, Summaries, Publications
15	CALB2	calbindin 2	11.1	Summaries, Publications
16	PHOX2B	paired-like homeobox 2b	11.0	Publications
17	L1CAM	L1 cell adhesion molecule	11.0	Publications
18	PSPN	persephin	11.0	Publications
19	ARTN	artemin	11.0	Publications
20	ACHE	acetylcholinesterase	11.0	Publications
21	BLVRB	biliverdin reductase B (flavin reductase (NADPH))	11.0	Publications
22	MMEL1	membrane metallo-endopeptidase-like 1	11.0	Orthologs
23	HMOX2	heme oxygenase (decycling) 2	11.0	Publications
24	NGFR	nerve growth factor receptor	11.0	Publications
25	GFRA2	GDNF family receptor alpha 2	11.0	Publications
26	SYP	synaptophysin	11.0	Publications
27	VIP	vasoactive intestinal peptide	11.0	Publications
28	ADCYAP1	adenylate cyclase activating polypeptide 1 (pituitary)	11.0	Publications
29	CTSD	cathepsin D	11.0	Publications
30	NTRK3	neurotrophic tyrosine kinase, receptor, type 3	11.0	Publications
31	PAX3	paired box 3	11.0
32	NTF3	neurotrophin 3	11.0	Publications
33	PHEX	phosphate regulating endopeptidase homolog, X-linked	11.0	Orthologs
34	KCNN3	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	11.0	Publications
35	NOS1	nitric oxide synthase 1 (neuronal)	11.0	Publications
36	NTRK1	neurotrophic tyrosine kinase, receptor, type 1	11.0
37	MITF	microphthalmia-associated transcription factor	11.0
38	MME	membrane metallo-endopeptidase	11.0	Orthologs
39	NPY	neuropeptide Y	11.0	Publications
40	NCAM1	neural cell adhesion molecule 1	11.0	Publications
41	BCHE	butyrylcholinesterase	11.0
42	GFRA4	GDNF family receptor alpha 4	11.0	Publications
43	GFRA3	GDNF family receptor alpha 3	11.0	Publications
44	HOXD9	homeobox D9	11.0	Publications
45	MNX1	motor neuron and pancreas homeobox 1	11.0	Publications
46	HOXA13	homeobox A13	11.0	Publications
47	HOXB7	homeobox B7	11.0	Publications
48	HOXA4	homeobox A4	11.0	Publications
49	NAPG	N-ethylmaleimide-sensitive factor attachment protein, gamma	11.0	Publications
50	IHH	Indian hedgehog	11.0	Publications

Pathways related to hirschsprung's disease according to GeneDecks:

(show all 50)

id	Pathway	Score	Top Affiliating Genes
1	Development GDNF family signaling10	10.8	RET, GDNF, ARTN, NRTN, GFRA1, GFRA2
2	Development_GDNF family signaling41	10.8	GDNF, PSPN, GFRA4, GFRA3, GFRA2, GFRA1
3	GDNF-Family Ligands and Receptor Interactions36	10.8	GDNF, PSPN, GFRA4, GFRA3, GFRA2, GFRA1
4	Axon guidance38	10.1	GDNF, PSPN, GFRA1, NRTN, ARTN, ITGB1
5	Neuroscience3	9.8	SYP, GFAP, NGFR, NOS1, NRP1, NTRK3
6	G alpha (q) signalling events38	9.8	TAC1, EDNRB, EDN3, EDN1, GRP
7	Breast Cancer Regulation by Stathmin136	9.8	NGFR, NRG1, NTRK3, NTRK1, NTF3, GRB10
8	Endothelin-1 Signaling Pathway36	9.6	ECE1, EDNRB, EDN1, NOS1, NTRK3, NTRK1
9	Melanocyte Development and Pigmentation36	9.3	SOX10, MITF, BCL2, PAX3, KIT
10	Adenylate cyclase-activating neuropeptides10	9.3	ADCYAP1, CALCA, GNAS, GCG
11	Pathways in cancer20	9.2	NTRK1, MITF, ITGB1, AXIN2, LAMA5, LAMA1
12	Amoebiasis20	9.2	GNAS, ITGB2, LAMA5, LAMA2, LAMA1, MUC2
13	Ras Pathway36	9.1	NRG1, NTRK3, NTF3, ITGB1, SEMA3A, KIT
14	Akt Signaling36	9.0	NGFR, NRG1, NTRK3, NTF3, ITGB2, SEMA3A
15	PPAR Pathway36	8.7	NGFR, NRP1, NRG1, NTRK3, NTRK1, NTF3
16	JNK Pathway36	8.5	NGFR, NRG1, NTRK3, NTRK1, NTF3, BCL2
17	PAK Pathway36	8.4	NRP1, NRG1, NTRK3, NTF3, BCL2, SEMA3A
18	ERK Signaling36	8.2	NRG1, NTRK3, ITGB2, ITGB1, LAMA5, LAMA2
19	Antioxidant Action of Vitamin-C36	INF	NGFR, NRP1, NRG1, NTRK3, NTRK1, NTF3
20	Actin-Based Motility by Rho Family GTPases36	INF	NGFR, NRG1, NTRK1, , SEMA3A
21	eIF2 Pathway36	INF	NGFR, NRP1, NRG1, NTRK3, NTRK1, NTF3
22	Tec Kinases Signaling36	INF	NGFR, NRG1, NTRK3, NTRK1, NTF3, ITGB2
23	ILK Signaling36	INF	ITGB2, NTF3, NTRK1, NTRK3, NRG1, ITGB1
24	ERK5 Signaling36	INF	NGFR, NRP1, NRG1, NTRK3, NTRK1, NTF3
25	Nuclear Receptor Activation by Vitamin-A36	INF	NGFR, NRP1, NRG1, NTRK3, NTRK1, NTF3
26	DHA Signaling36	INF	NTRK3, NRG1, NRP1, NGFR, NTRK1, NTF3
27	p70S6K Signaling36	INF	NGFR, NRP1, NRG1, NTRK3, NTRK1, NTF3
28	Development_MAG-dependent inhibition of neurite outgrowth41	INF	NGFR, NTRK3, NTRK1, NTF3,
29	CDK5 Pathway36	INF	NGFR, LAMA2, LAMA1,
30	Phospholipase-C Pathway36	INF	NTF3, NTRK1, NTRK3, NRG1, NRP1, NGFR
31	Telomerase Components in Cell Signaling36	INF	NGFR, NRP1, NRG1, NTRK3, NTRK1, NTF3
32	Rap1 Pathway36	INF	NRG1, NTRK3, NTRK1, NTF3, ITGB2, ITGB1
33	Activation of PKC through GPCR36	INF	NGFR, NRP1, NRG1, NTRK3, NTRK1, NTF3
34	Molecular Mechanisms of Cancer36	INF	SOX10, NRG1, NTF3, IHH, ITGB2, ITGB1
35	Paxillin Interactions36	INF	NRG1, NTRK3, NTRK1, NTF3, ITGB2, ITGB1
36	CREB Pathway36	INF	NGFR, NRP1, NTRK3, NTF3, , SEMA3A
37	Rho Family GTPases36	INF	ITGB2, NTF3, NTRK1, NTRK3, NRG1, GFAP
38	Mitochondrial Apoptosis36	INF	NGFR, NRP1, NRG1, NTRK3, NTRK1, NTF3
39	Renin-Angiotensin Pathway36	INF	NGFR, NRP1, NRG1, NTRK3, NTRK1, NTF3
40	Guidance Cues and Growth Cone Motility36	INF	NGFR, NRP1, NTRK3, NTRK1, , SEMA3A
41	Cellular Apoptosis Pathway36	INF	NGFR, NRP1, NRG1, NTRK3, NTRK1, NTF3
42	Rac1 Pathway36	INF	NGFR, NRP1, NRG1, NTRK3, NTRK1, NTF3
43	Apoptotic Pathways in Synovial Fibroblasts36	INF	NGFR, NRP1, NRG1, NTRK3, NTRK1, NTF3
44	p53 Mediated Apoptosis36	INF	NTRK3, NRG1, NRP1, NGFR, NTRK1, NTF3
45	Development_Neurotrophin family signaling41	INF	NGFR, NTRK3, NTRK1, NTF3,
46	MAPK Signaling36	INF	NTF3, NTRK1, NTRK3, NRG1, NRP1, NGFR
47	Development MAG-dependent inhibition of neurite outgrowth10	INF	, NTF3, NTRK1, NTRK3, NGFR
48	PTEN Pathway36	INF	NGFR, NRP1, NRG1, NTRK3, NTRK1, NTF3
49	Development Neurotrophin family signaling10	INF	, NTF3, NTRK1, NTRK3, NGFR
50	Pancreatic Adenocarcinoma36	INF	NTRK3, NTRK1, NTF3, BCL2, , SEMA3A

Compounds related to hirschsprung's disease according to GeneDecks:

(show top 50)    (show all 228)

id	Compound	Score	Top Affiliating Genes
1	carbachol32 9 9	11.9	GCG, GRP, SST, EDN3, TAC1
2	catecholamine32	9.9	RET, BLVRB, CHGA, S100B, ENO2, NTF3
3	glucose32	9.5	KIT, GCG, BLVRB, S100A12, S100B, MME
4	phosphoramidon32 9 9	11.1	VIP, MME, GRP, CALCA, EDN1, EDN3
5	gnrh32	9.1	NCAM1, GCG, BLVRB, MME, GRP, GNAS
6	isoproterenol32 9 9	10.7	GCG, CHGA, GNAS, GJA1, PYY, SST
7	hematoxylin32	8.6	NCAM1, KIT, BLVRB, CHGA, MUC2, S100B
8	cysteine32	8.5	GCG, PAX3, MUC2, UCHL1, S100B, ITGB1
9	atropine32 9 9	10.3	GCG, VIP, BCHE, MME, GRP, CALCA
10	12-o-tetradecanoylphorbol 13-acetate32	8.2	NCAM1, RET, MUC2, UCHL1, ITGB1, ITGB2
11	octreotide32 42 9 9	10.9	GCG, VIP, CHGA, MME, GRP, ENO2
12	alanine32	7.8	NCAM1, RET, GCG, VIP, BCHE, S100B
13	5-hydroxytryptamine32	7.3	GCG, VIP, CHGA, MME, GRP, ENO2
14	glutamine32	7.3	NCAM1, KIT, GCG, VIP, PAX3, KCNN3
15	progesterone32 42 9 18 9	11.1	NCAM1, KIT, BCL2, CHGA, S100B, ITGB1
16	arginine32	6.6	RET, GCG, VIP, BLVRB, BCHE, CHGA
17	paraffin32	6.6	NCAM1, RET, KIT, BLVRB, BCL2, CHGA
18	nitric oxide32 9 18 9	9.3	NCAM1, KIT, VIP, BLVRB, CHGA, S100B
19	dexamethasone32 42 34 9 9	10.2	NCAM1, PCK1, VIP, BCL2, CHGA, MUC2
20	glutamate32	5.8	NCAM1, GCG, VIP, BLVRB, BCHE, KCNN2
21	nmda32 42	INF	NCAM1, BLVRB, , BCHE, GRP, ENO2
22	tyrosine32	INF	NCAM1, RET, KIT, SEMA3A, VIP, BLVRB
23	potassium32 9 18 9	INF	NCAM1, VIP, BLVRB, , BCHE, KCNN2
24	indomethacin32 9 9	INF	GCG, VIP, BLVRB, , ITGB2, MME
25	thymidine32 18	INF	KIT, VIP, , S100B, ITGB1, MME
26	capsaicin32	INF	VIP, , S100A12, MME, GRP, CALCA
27	adenylate32	INF	GCG, VIP, BLVRB, , CHGA, S100B
28	dbc-amp32	INF	NCAM1, VIP, , S100B, ITGB1, ENO2
29	cycloheximide32	INF	KIT, GCG, PAX3, , BCL2, CHGA
30	tetrodotoxin32	INF	GCG, VIP, , MME, GRP, ENO2
31	forskolin32 42 9 9	INF	GCG, VIP, , CHGA, MUC2, S100B
32	histamine32 18	INF	NCAM1, KIT, GCG, VIP, , CHGA
33	cyclic amp32 18	INF	RET, GCG, , CHGA, MITF, GRP
34	ethanol32 34 9 18 9	INF	NCAM1, BLVRB, , BCHE, S100B, ITGB2
35	dopamine32 9 18 9	INF	NCAM1, RET, GCG, VIP, BLVRB,
36	vegf32	INF	NCAM1, RET, KIT, GCG, SEMA3A, VIP
37	aspartate32	INF	RET, VIP, , S100B, ITGB2, GLUL
38	gaba32 42	INF	NCAM1, GCG, VIP, BLVRB, , CHGA
39	choline32 9 18 9	INF	RET, VIP, BLVRB, , BCHE, S100B
40	calcium32 9 18 9	INF	KIT, VIP, NAPG, BLVRB, , BCHE
41	creatinine32	INF	NCAM1, GCG, , BCHE, CHGA, LAMA2
42	serine32	INF	NCAM1, RET, KIT, GCG, SEMA3A, VIP
43	phosphatidylinositol32	INF	NCAM1, RET, KIT, , BCL2, P2RY1
44	testosterone32 9 18 9	INF	NCAM1, RET, KIT, VIP, BLVRB,
45	acth32	INF	VIP, , MME, GRP, GNAS, GJA1
46	retinoic acid32 42 18	INF	NCAM1, RET, KIT, PCK1, , BCL2
47	acetylcholine32 9 18 9	INF	NCAM1, GCG, VIP, BLVRB, , BCHE
48	estrogen32	INF	NCAM1, KIT, GCG, VIP, , BCL2
49	norepinephrine32 9 18 9	INF	GCG, VIP, , BCHE, CHGA, S100B
50	steroid32	INF	KIT, BLVRB, , CHGA, S100B, ITGB1

Cellular components related to hirschsprung's disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	anchored to membrane	GO:031225	10.3	NCAM1, ACHE, GFRA1, GFRA2, GFRA3, GFRA4
2	laminin-1 complex	GO:005606	9.5	LAMA5, LAMA2, LAMA1
3	extracellular space	GO:005615	6.9	CTSD, NRG1, EDN1, EDN3, TAC1, PSPN
4	plasma membrane	GO:005886	6.1	ACHE, EDNRB, NGFR, PHEX, NRP1, NTRK1
5	extracellular region	GO:005576	INF	GDNF, SST, CTSD, NTF3, NRG1, NRP1

Biological processes related to hirschsprung's disease according to GeneDecks:

(show all 25)

id	Name	GO ID	Score	Top Affiliating Genes
1	enteric nervous system development	GO:048484	10.8	GDNF, SOX10, EDNRB, PHOX2B, NTF3, RET
2	neural crest cell migration	GO:001755	10.7	RET, GDNF, SOX10, EDNRB, EDN3, NRTN
3	sympathetic nervous system development	GO:048485	10.5	GDNF, GFRA3, PHOX2B, NTRK1, SEMA3A
4	vein smooth muscle contraction	GO:014826	10.4	EDNRB, EDN3, EDN1
5	regulation of systemic arterial blood pressure by endothelin	GO:003100	10.3	ECE1, EDN3, EDN1
6	peripheral nervous system development	GO:007422	10.2	SOX10, GFRA3, EDNRB, NRG1, NTF3, ARTN
7	transmembrane receptor protein tyrosine kinase signaling pathway	GO:007169	10.1	ADCYAP1, GFRA2, NRTN, NRG1, NTRK3, NTRK1
8	positive regulation of transcription from RNA polymerase II promoter	GO:045944	10.1	GDNF, NKX2-1, SOX10, PHOX2B, NOS1, NTF3
9	positive regulation of hormone secretion	GO:046887	10.0	EDN3, EDN1, P2RY1
10	vasoconstriction	GO:042310	9.8	EDNRB, EDN3, EDN1
11	cell surface receptor signaling pathway	GO:007166	9.8	PRMT1, GFRA1, EDNRB, EDN3, EDN1, SST
12	regulation of embryonic development	GO:045995	9.7	LAMA5, LAMA2, LAMA1
13	activation of adenylate cyclase activity	GO:007190	9.7	ADCYAP1, NTRK1, CALCA, GNAS
14	branching involved in ureteric bud morphogenesis	GO:001658	9.5	BCL2, LAMA5, PSPN, GDNF
15	negative regulation of calcium ion transport into cytosol	GO:010523	9.4	BCL2, CALCA, NOS1
16	melanocyte differentiation	GO:030318	9.3	SOX10, EDNRB, EDN3, MITF, BCL2, KIT
17	response to insulin stimulus	GO:032868	9.3	GAL, SI, GRB10, BCL2, PCK1
18	cell proliferation	GO:008283	9.2	NPY, ACHE, NRG1, PYY, GLUL, AXIN2
19	cell-cell signaling	GO:007267	8.4	ADCYAP1, TAC1, EDN3, EDN1, PHEX, NRP1
20	nervous system development	GO:007399	INF	ACHE, GFRA2, GFRA3, PSPN, GAL, GDNF
21	response to drug	GO:042493	INF	GAL, EDN1, SST, ENO2, ASS1, ITGB1
22	feeding behavior	GO:007631	INF	GAL, NKX2-1, NPY, PYY, CALCA,
23	mechanoreceptor differentiation	GO:042490	INF	NTRK1, NTF3,
24	nerve development	GO:021675	INF	NGFR, NRTN, NTF3, MNX1,
25	axon guidance	GO:007411	INF	NRP1, NRTN, NGFR, GFRA1, PSPN, NKX2-1

Molecular functions related to hirschsprung's disease according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	nerve growth factor binding	GO:048406	10.4	NGFR, NTRK1, NTF3
2	neuropeptide hormone activity	GO:005184	10.0	GAL, ADCYAP1, NPY, PYY, GRP, VIP
3	transmembrane receptor protein tyrosine kinase activity	GO:004714	9.8	RET, KIT, NTRK1, NTRK3
4	receptor activity	GO:004872	9.5	GFRA4, GFRA1, NGFR, ITGB2, ITGB1, P2RY1
5	hormone activity	GO:005179	9.0	EDN3, EDN1, SST, PYY, CALCA, VIP
6	receptor binding	GO:005102	7.9	GCG, EDN3, GFRA1, GFRA3, PSPN, NPY
7	growth factor activity	GO:008083	INF	GDNF, PSPN, NRTN, NRG1, NTF3, ARTN