TIA
MCID: HRS001
MIFTS: 81

Hirschsprung's Disease (TIA) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Fetal diseases categories

Summaries for Hirschsprung's Disease

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OMIM:46 The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is... (142623) more...

MalaCards based summary: Hirschsprung's Disease, also known as hirschsprung disease, is related to central hypoventilation syndrome and central hypoventilation syndrome, congenital, with or without hirschsprung disease, and has symptoms including nausea and vomiting, constipation and abdominal pain. An important gene associated with Hirschsprung's Disease is RET (ret proto-oncogene), and among its related pathways are Endothelin and Signaling events regulated by Ret tyrosine kinase. The compounds bq610 and pd 142893 have been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and bone, and related mouse phenotypes are pigmentation and muscle.

Disease Ontology:9 A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.

Genetics Home Reference:22 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.

NIH Rare Diseases:42 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. last updated: 10/17/2013

Descriptions from OMIM:46 202550, 613712, 600155, 613711, 600156 606874, 606875, 608462, 611644 more

GeneReviews summary for hirschsprung-ov

Aliases & Classifications for Hirschsprung's Disease

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Sources:
9Disease Ontology, 42NIH Rare Diseases, 22Genetics Home Reference, 61UMLS, 44Novoseek, 20GeneReviews, 21GeneTests, 23GTR, 48Orphanet, 46OMIM, 11DISEASES, 34MeSH, 56SNOMED-CT, 28ICD9CM, 39NCIt, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet, 26ICD10
See all sources

Hirschsprung's Disease, Aliases & Descriptions:

Name: Hirschsprung's Disease 9 42 22
Hirschsprung Disease 9 20 21 23 22 44 48 61
Aganglionic Megacolon 9 20 42 22 48 61
Hscr 20 42 22 48
Congenital Intestinal Aganglionosis 22 48 61
Hirschsprung Disease Type 1 42 23 61
Hirschsprung Disease 1 42 46 61
Total Intestinal Aganglionosis 9 44
Hirschsprungs Disease 11 61
Pelvirectal Achalasia 9 61
 
Congenital Megacolon 9 22
Tia 42 61
Rare Form of Hirschsprung's Disease 42
Near-Total Intestinal Aganglionosis 42
Aganglionosis, Total Intestinal 42
Aganglionosis, Total Colonic 42
Aganglionosis 9
Macrocolon 9
Hscr 1 42
Ntia 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
hirschsprung disease:
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Any age


External Ids:

Disease Ontology9 DOID:10487
MeSH34 D006627
ICD9CM28 751.3
NCIt39 C34700
MESH via Orphanet35 D006627
ICD10 via Orphanet27 Q43.1
UMLS via Orphanet62 C0019569
ICD1026 Q43.1

Related Diseases for Hirschsprung's Disease

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Diseases in the Hirschsprung's Disease family:

Hirschsprung Disease Type 2 Hirschsprung Disease Type 3
Ret-Related Hirschsprung Disease Nrtn-Related Hirschsprung Disease
Gdnf-Related Hirschsprung Disease Ednrb-Related Hirschsprung Disease
Edn3-Related Hirschsprung Disease Ece1-Related Hirschsprung Disease
Hirschsprung Disease 6 Hirschsprung Disease 9
Hirschsprung Disease 5 Hirschsprung Disease 8
Hirschsprung Disease 7 Hirschsprung Disease 4

Diseases related to Hirschsprung's Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 166)
idRelated DiseaseScoreTop Affiliating Genes
1central hypoventilation syndrome31.3GDNF
2central hypoventilation syndrome, congenital, with or without hirschsprung disease31.2RET, PHOX2B
3multiple endocrine neoplasia31.0RET, GDNF
4waardenburg syndrome type 431.0RET, SOX10, EDN3, EDNRB
5multiple endocrine neoplasia type 2a30.9GDNF, GFRA1, RET
6familial medullary thyroid carcinoma30.7GDNF
7pyloric stenosis30.5BLVRB
8intestinal obstruction30.5GDNF, EDNRB, EDN3, RET
9renal agenesis30.5RET, GFRA1, GDNF
10waardenburg's syndrome30.4RET, SOX10, EDN3, EDNRB
11megacolon10.7
12transient cerebral ischemia10.6
13mini stroke10.5
14mowat-wilson syndrome10.5
15renal dysplasia10.5RET, GDNF
16neuroma10.4GDNF, RET
17parkinson's disease10.4NRTN, GDNF
18piebaldism10.4
19developmental disabilities10.4EDNRB, SOX10, RET
20thyroid medullary carcinoma10.4RET, GFRA1, GDNF
21pulmonary hypertension10.4EDNRB, EDN3, ECE1
22cerebritis10.4
23neuroendocrine tumor10.4RET, GFRA1, GDNF
24hirschsprung disease ganglioneuroblastoma10.4
25hirschsprung disease type 310.4
26down syndrome10.3
27congenital central hypoventilation syndrome10.3
28hirschsprung disease type 210.3
29hirschsprung disease type d brachydactyly10.3
30mental retardation10.3
31meningioma10.3CALB2, EDN3, EDNRB
32primary hyperoxaluria10.3ECE1, EDN3, EDNRB, GDNF
33malignant peripheral nerve sheath tumor10.3CALB2, SOX10
34thyroiditis10.3
35hirschsprung disease polydactyly heart disease10.3
36santos mateus leal syndrome10.3
37moyamoya disease10.3
38carotid stenosis10.3
39duodenitis10.3
40duodenal obstruction10.3
41cleft palate10.3
42ring chromosome 1010.3
43renal hypoplasia10.3
44huntington's disease10.2NRTN, CALB2, BLVRB, GDNF
45smith-lemli-opitz syndrome10.2
46microcephaly10.2
47mowat-wilson syndrome due to monosomy 2q2210.2
48epilepsy syndrome10.2CALB2, ZEB2, BLVRB, GDNF
49fabry disease10.2
50patent foramen ovale10.2

Graphical network of the top 20 diseases related to Hirschsprung's Disease:



Diseases related to hirschsprung's disease

Symptoms for Hirschsprung's Disease

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Symptoms by clinical synopsis from OMIM:

142623

Clinical features from OMIM:

202550,613712,600155,613711,142623,600156,606874,606875,608462,611644

Symptoms:

 48 (show all 17)
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • functional anomalies of the digestive system
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • acute abdominal pain/colic
  • constipation
  • intestinal obstruction/ileus
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • sensorineural deafness/hearing loss
  • clasp thumb/thumb adduction/distal thumb phalangeal bone deviated/large
  • polyposis of the bowel/colon/intestine
  • acute diarrhea
  • intestinal perforation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • thyroid neoplasm/tumor/carcinoma/cancer
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • sepsis severe/septicemia

HPO human phenotypes related to Hirschsprung's Disease:

(show all 23)
id Description Frequency HPO Source Accession
1 nausea and vomiting hallmark (90%) HP:0002017
2 constipation hallmark (90%) HP:0002019
3 abdominal pain hallmark (90%) HP:0002027
4 aganglionic megacolon hallmark (90%) HP:0002251
5 intestinal obstruction hallmark (90%) HP:0005214
6 weight loss typical (50%) HP:0001824
7 sensorineural hearing impairment occasional (7.5%) HP:0000407
8 adducted thumb occasional (7.5%) HP:0001181
9 diarrhea occasional (7.5%) HP:0002014
10 short stature occasional (7.5%) HP:0004322
11 neoplasm of the thyroid gland occasional (7.5%) HP:0100031
12 cognitive impairment occasional (7.5%) HP:0100543
13 sepsis occasional (7.5%) HP:0100806
14 intestinal polyposis occasional (7.5%) HP:0200008
15 autosomal dominant inheritance HP:0000006
16 abnormality of metabolism/homeostasis HP:0001939
17 vomiting HP:0002013
18 constipation HP:0002019
19 aganglionic megacolon HP:0002251
20 abdominal distention HP:0003270
21 enterocolitis HP:0004387
22 autosomal recessive inheritance HP:0000007
23 total intestinal aganglionosis HP:0005241

Drugs & Therapeutics for Hirschsprung's Disease

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Drug clinical trials:

Search ClinicalTrials for Hirschsprung's Disease

Search NIH Clinical Center for Hirschsprung's Disease

Genetic Tests for Hirschsprung's Disease

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Genetic tests related to Hirschsprung's Disease:

id Genetic test Affiliating Genes
1 Hirschsprung Disease21 RET
2 Hirschsprung Disease 123
3 Hirschsprung's Disease23

Anatomical Context for Hirschsprung's Disease

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MalaCards organs/tissues related to Hirschsprung's Disease:

32
Colon, Thyroid, Bone, Heart, Testes, Smooth muscle, Eye, Pituitary, Brain, Kidney, Skin

Animal Models for Hirschsprung's Disease or affiliated genes

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MGI Mouse Phenotypes related to Hirschsprung's Disease:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.8EDNRB, EDN3, ECE1, L1CAM, SOX10
2MP:00053699.5GDNF, EDNRB, ECE1, GFRA1, RET, NRTN
3MP:00053819.4GDNF, EDNRB, EDN3, ECE1, GFRA1, SOX10
4MP:00028739.4PHOX2B, CALB2, RET, SOX10, GFRA1, ECE1
5MP:00053829.3EDNRB, ECE1, L1CAM, SOX10, ZEB2
6MP:00053809.3EDNRB, EDN3, ECE1, GFRA1, SOX10, RET
7MP:00053919.2EDNRB, ECE1, L1CAM, ZEB2, NRTN, PHOX2B
8MP:00053849.0GDNF, EDNRB, GFRA1, L1CAM, SOX10, RET
9MP:00053868.9GDNF, EDNRB, EDN3, GFRA1, L1CAM, SOX10
10MP:00107688.9GDNF, EDNRB, EDN3, ECE1, GFRA1, L1CAM
11MP:00036318.1ARTN, GDNF, EDNRB, EDN3, ECE1, GFRA1

Publications for Hirschsprung's Disease

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Articles related to Hirschsprung's Disease:

(show top 50)    (show all 665)
idTitleAuthorsYear
1
Skip segment Hirschsprung's disease: a case report and novel management technique. (23948815)
2014
2
Migration and differentiation of transplanted enteric neural crest-derived cells in murine model of Hirschsprung's disease. (25230796)
2014
3
Hirschsprung's disease associated with Mowat-Wilson syndrome. (24827654)
2014
4
Hirschsprung's Disease and Associated Congenital Heart Defects: A Prospective Observational Study from a Single Institution. (25279367)
2014
5
Transanal endorectal pull-through for classic segment Hirschsprung's disease: with or without laparoscopic mobilization of the rectosigmoid? (24074667)
2013
6
Laparoscopic-assisted pull-through for Hirschsprung's disease, a prospective repeated evaluation of functional outcome. (24314199)
2013
7
Classification and diagnostic criteria of variants of Hirschsprung's disease. (23943250)
2013
8
Expression patterns of CXCR4 in different colon tissue segments of patients with Hirschsprung's disease. (23769877)
2013
9
Anorectal function is not always normal after surgery in Hirschsprung's disease. (23208262)
2012
10
Smooth muscle proteins from Hirschsprung's disease facilitates stem cell differentiation. (22048648)
2012
11
The microenvironment in the Hirschsprung's disease gut supports myenteric plexus growth. (22315170)
2012
12
Fine mapping of the NRG1 Hirschsprung's disease locus. (21283760)
2011
13
Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease. (20089534)
2010
14
Transanal pull-through procedure for Hirschsprung's disease: a 5-year experience. (19224432)
2009
15
False positive reporting of Hirschsprung's disease in Alaska: an evaluation of Hirschsprung's disease surveillance, birth years 1996-2007. (19777544)
2009
16
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. (18443298)
2008
17
Single-stage transanal endorectal pull-through for Hirschsprung's disease: perspective from a developing country. (17336194)
2007
18
Application of a plain abdominal radiograph transition zone (PARTZ) in Hirschsprung's disease. (17257439)
2007
19
Our experience with transanal endorectal pull-through in Hirschsprung's disease. (17968790)
2007
20
Anesthesia in an infant with uncorrected tetralogy of Fallot for transanal pull-through for Hirschsprung's disease. (16409542)
2006
21
Increased incidence of medullary thyroid carcinoma in patients treated for Hirschsprung's disease. (16226978)
2005
22
Laparoscopically assisted colorectal resection in Hirschsprung's disease. (16131479)
2005
23
Complete innervation profile of whole bowel resected at pull-through for Hirschsprung's disease. Unexpected findings. (16189675)
2005
24
Inflammatory changes secondary to postoperative complications of Hirschsprung's disease as a cause of histopathologic changes typical of intestinal neuronal dysplasia. (14966730)
2004
25
Variant Hirschsprung's disease. (15660323)
2004
26
Histological studies on Hirschsprung's disease and its allied disorders in childhood. (15239242)
2004
27
Stem cell defects as a possible cause of Hirschsprung's disease. (15057763)
2004
28
Clinical outcome of laparoscopically assisted endorectal pull-through in Hirschsprung's disease: comparison of abdominal and perineal approaches. (15616944)
2004
29
Low-cost instrumentation for the diagnosis of Hirschsprung's disease. (12617357)
2003
30
Submucosal pressure-air insufflation facilitates endorectal mucosectomy in transanal endorectal pull-through procedure in patients with Hirschsprung's disease. (12596100)
2003
31
Reoperative surgery for Hirschsprung's disease. (12728399)
2003
32
The constipated child: how likely is Hirschsprung's disease? (12698267)
2003
33
Laparoscopy-assisted suction colonic biopsy and intraoperative rapid acetylcholinesterase staining during transanal pull-through for Hirschsprung's disease. (12483623)
2002
34
Mutation of RET gene in Chinese patients with Hirschsprung's disease. (12439935)
2002
35
Endorectal pull-through for Hirschsprung's disease: 17-year review of results in Ukraine. (12598972)
2002
36
Hirschsprung's disease associated with Ondine's curse. (12503667)
2002
37
Omphalocele, colonic atresia, and Hirschsprung's disease: an unusual cluster of malformations in a single patient. (11315294)
2001
38
Morphological investigation of the enteric nervous system in Hirschsprung's disease and hypoganglionosis using whole-mount colon preparation. (10211651)
1999
39
Hemimegalencephaly and Hirschsprung's disease: a unique association. (9650691)
1998
40
Comparison of neuropeptide Y, protein gene product 9.5, and acetylcholinesterase in the diagnosis of Hirschsprung's disease. (9185221)
1997
41
Prevalence and parental origin of de novo RET mutations in Hirschsprung's disease. (9043870)
1996
42
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. (8114938)
1994
43
Immunocytochemistry for neuronal markers shows deficiencies in conventional histology in the treatment of Hirschsprung's disease. (7693908)
1993
44
A novel neuropeptide, pituitary adenylate cyclase-activating polypeptide (PACAP), in human intestine: evidence for reduced content in Hirschsprung's disease. (1423504)
1992
45
Acetylcholinesterase histochemistry of rectal suction biopsies in the diagnosis of Hirschsprung's disease. (1299239)
1992
46
Intestinal endocrine cells in Hirschsprung's disease. No reduction in density in aganglionic compared with ganglionic segment. (1976732)
1990
47
Report of two patients with hypertrophic pyloric stenosis and Hirschsprung's disease. Coincident or common etiology? (4026078)
1985
48
Association of Hirschsprung's disease and imperforate anus in a patient with "cat-eye" syndrome. A report of one case and review of the literature. (6504608)
1984
49
Prune belly syndrome associated with Hirschsprung's disease. (35974)
1979
50
Hirschsprung's disease, aganglionic or hypoganglionic megacolon. Animal model: aganglionic megacolon in piebald and spotted mutant mouse strains. (1124798)
1975

Variations for Hirschsprung's Disease

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UniProtKB/Swiss-Prot genetic disease variations for Hirschsprung's Disease:

63 (show all 67)
id Symbol AA change Variation ID SNP ID
1RETp.Ser32LeuVAR_006295rs76764689
2RETp.Pro64LeuVAR_006296rs77596424
3RETp.Cys142SerVAR_006298
4RETp.Arg231HisVAR_006299rs79661516
5RETp.Glu251LysVAR_006300
6RETp.Arg287GlnVAR_006301
7RETp.Arg330GlnVAR_006302rs80236571
8RETp.Phe393LeuVAR_006303rs78098482
9RETp.Pro399LeuVAR_006304
10RETp.Arg475GlnVAR_006305rs138624658
11RETp.Cys609TyrVAR_006306rs77939446
12RETp.Cys609TrpVAR_006307
13RETp.Cys618ArgVAR_006311rs76262710
14RETp.Cys618SerVAR_006313rs79781594
15RETp.Cys620ArgVAR_006316
16RETp.Ser690ProVAR_006331
17RETp.Ser767ArgVAR_006334
18RETp.Arg873GlnVAR_006338
19RETp.Phe893LeuVAR_006339
20RETp.Arg897GlnVAR_006340rs76087194
21RETp.Lys907GluVAR_006341
22RETp.Glu921LysVAR_006343
23RETp.Arg972GlyVAR_006346rs76534745
24RETp.Pro973LeuVAR_006347
25RETp.Met980ThrVAR_006348
26RETp.Pro20LeuVAR_009459
27RETp.Arg77CysVAR_009460
28RETp.Phe174SerVAR_009462
29RETp.Arg180ProVAR_009463
30RETp.Cys197TyrVAR_009464
31RETp.Arg313GlnVAR_009465rs77702891
32RETp.Arg360TrpVAR_009467
33RETp.Asn394LysVAR_009468
34RETp.Cys620TrpVAR_009475
35RETp.Gln626LysVAR_009476
36RETp.Glu762GlnVAR_009481
37RETp.Tyr791PheVAR_009483rs77724903
38RETp.Arg813GlnVAR_009484
39RETp.Leu1061ProVAR_009490
40RETp.Met1064ThrVAR_009491
41RETp.Leu40ProVAR_009492
42RETp.Ser765ProVAR_009493rs75075748
43RETp.Arg114HisVAR_018154
44RETp.Val145GlyVAR_035711
45RETp.Arg114CysVAR_067101
46RETp.Pro155LeuVAR_067102
47RETp.Arg175ProVAR_067103
48RETp.Thr278AlaVAR_067104
49RETp.Thr278ProVAR_067105
50RETp.Asp300AsnVAR_067106
51RETp.Ser316IleVAR_067107
52RETp.Ser339LeuVAR_067108
53RETp.Asp353TyrVAR_067109
54RETp.Arg360GlnVAR_067110
55RETp.Val397MetVAR_067111rs183729115
56RETp.Val412MetVAR_067112
57RETp.Gly423ArgVAR_067113
58RETp.Glu480LysVAR_067114
59RETp.Glu595GlnVAR_067116
60RETp.Pro679LeuVAR_067117
61RETp.Arg694GlnVAR_067118rs141185224
62RETp.Asn783SerVAR_067119
63RETp.Gly830ArgVAR_067120rs200127630
64RETp.Lys907ThrVAR_067121
65RETp.Phe961LeuVAR_067122
66RETp.Leu1052ValVAR_067123
67RETp.Tyr1062CysVAR_067124

Clinvar genetic disease variations for Hirschsprung's Disease:

7 (show all 29)
id Gene Name Type Significance SNP ID Assembly Location
1RETNM_020975.4(RET): c.2293T> C (p.Ser765Pro)single nucleotide variantrisk factorrs75075748GRCh37Chr 10, 43613829: 43613829
2RETNM_020975.4(RET): c.406G> T (p.Glu136Ter)single nucleotide variantrisk factorrs79014735GRCh37Chr 10, 43597858: 43597858
3RETRET, 1-BP DEL, G1120deletionrisk factor
4RETNM_020975.4(RET): c.2690G> A (p.Arg897Gln)single nucleotide variantrisk factorrs76087194GRCh37Chr 10, 43615611: 43615611
5RETNM_020975.4(RET): c.2914A> G (p.Arg972Gly)single nucleotide variantrisk factorrs76534745GRCh37Chr 10, 43619231: 43619231
6RETNM_020975.4(RET): c.95C> T (p.Ser32Leu)single nucleotide variantrisk factorrs76764689GRCh37Chr 10, 43595928: 43595928
7RETNM_020975.4(RET): c.191C> T (p.Pro64Leu)single nucleotide variantrisk factorrs77596424GRCh37Chr 10, 43596024: 43596024
8RETNM_020975.4(RET): c.538C> T (p.Arg180Ter)single nucleotide variantrisk factorrs76449634GRCh37Chr 10, 43597990: 43597990
9RETNM_020975.4(RET): c.989G> A (p.Arg330Gln)single nucleotide variantrisk factorrs80236571GRCh37Chr 10, 43601945: 43601945
10RETNM_020975.4(RET): c.1179C> A (p.Phe393Leu)single nucleotide variantrisk factorrs78098482GRCh37Chr 10, 43604594: 43604594
11RETNM_020975.4(RET): c.938G> A (p.Arg313Gln)single nucleotide variantrisk factorrs77702891GRCh37Chr 10, 43601894: 43601894
12RETNM_020975.4(RET): c.692G> A (p.Arg231His)single nucleotide variantrisk factorrs79661516GRCh37Chr 10, 43600466: 43600466
13RETNM_020975.4(RET): c.2944C> T (p.Arg982Cys)single nucleotide variantrisk factorrs17158558GRCh37Chr 10, 43620335: 43620335
14RETNM_020630.4(RET): c.1941C> T (p.Ile647=)single nucleotide variantrisk factorrs75225191GRCh37Chr 10, 43609989: 43609989
15RETNM_020975.4(RET): c.135G> A (p.Ala45=)single nucleotide variantrisk factorrs1800858GRCh37Chr 10, 43595968: 43595968
16RETNM_020630.4(RET): c.73+9277T> Csingle nucleotide variantrisk factorrs2435357GRCh37Chr 10, 43582056: 43582056
17NM_000115.3(EDNRB): c.824G> A (p.Trp275Ter)single nucleotide variantrisk factorrs104894389GRCh37Chr 13, 78475320: 78475320
18EDNRBEDNRB, 1-BP INS, 878Tinsertionrisk factor
19EDNRBNM_000115.3(EDNRB): c.169G> A (p.Gly57Ser)single nucleotide variantrisk factorrs1801710GRCh37Chr 13, 78492540: 78492540
20NM_000115.3(EDNRB): c.914G> A (p.Ser305Asn)single nucleotide variantrisk factorrs5352GRCh37Chr 13, 78475230: 78475230
21EDNRBNM_001201397.1(EDNRB): c.43A> T (p.Lys15Ter)single nucleotide variantrisk factorrs267606780GRCh37Chr 13, 78493708: 78493708
22EDN3NM_000114.2(EDN3): c.49G> A (p.Ala17Thr)single nucleotide variantrisk factorrs11570255GRCh37Chr 20, 57875916: 57875916
23EDN3NM_000114.2(EDN3): c.670G> A (p.Ala224Thr)single nucleotide variantrisk factorrs11570351GRCh37Chr 20, 57899467: 57899467
24EDN3EDN3, 1-BP INS, 262Ginsertionrisk factor
25RETNM_020630.4(RET): c.1880-2A> Gsingle nucleotide variantLikely pathogenicrs193922699GRCh37Chr 10, 43609926: 43609926
26GDNFNM_000514.3(GDNF): c.277C> T (p.Arg93Trp)single nucleotide variantPathogenic, risk factorrs36119840GRCh37Chr 5, 37816112: 37816112
27GDNFNM_000514.3(GDNF): c.448G> A (p.Asp150Asn)single nucleotide variantrisk factorrs76466003GRCh37Chr 5, 37815941: 37815941
28GDNFNM_000514.3(GDNF): c.460A> T (p.Thr154Ser)single nucleotide variantrisk factorrs104893891GRCh37Chr 5, 37815929: 37815929
29GDNFNM_000514.3(GDNF): c.633C> G (p.Ile211Met)single nucleotide variantrisk factorrs121918536GRCh37Chr 5, 37815756: 37815756

Expression for genes affiliated with Hirschsprung's Disease

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Expression patterns in normal tissues for genes affiliated with Hirschsprung's Disease

Search GEO for disease gene expression data for Hirschsprung's Disease.

Pathways for genes affiliated with Hirschsprung's Disease

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Compounds for genes affiliated with Hirschsprung's Disease

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Compounds related to Hirschsprung's Disease according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1bq6104410.6EDNRB, EDN3
2pd 1428934410.6EDNRB, EDN3
3bq 302044 2911.6EDNRB, EDN3
4irl 162044 2911.6EDNRB, EDN3
5fr13931744 2911.5EDNRB, EDN3
6sarafotoxin4410.5EDNRB, EDN3
7tezosentan4410.5EDNRB, EDN3
8bq78844 2911.5EDN3, EDNRB
9bq12344 2911.5EDN3, EDNRB
10bosentan44 1211.5EDNRB, EDN3
11phosphoramidon44 1211.4EDNRB, EDN3, ECE1
12thiorphan44 29 1212.4ECE1, EDN3
13melatonin44 29 60 25 1214.3GDNF, EDNRB, CALB2
14pd 98,0594410.2GDNF, ECE1, RET, NRTN
15catecholamine4410.2RET, BLVRB, GDNF
16norepinephrine44 25 1212.2PHOX2B, EDN3, EDNRB, GDNF
17prostacyclin4410.2ECE1, EDN3, EDNRB
18cgmp44 2911.1EDNRB, EDN3, BLVRB
19aspartate4410.1GDNF, EDNRB, EDN3, RET
206-hydroxydopamine4410.1ARTN, NRTN, PSPN, GDNF
21indomethacin44 29 60 1213.0EDNRB, EDN3, BLVRB, ECE1
22vegf4410.0GDNF, EDNRB, EDN3, ECE1, RET
23quinolinic acid44 2511.0CALB2, BLVRB
24guanine44 25 1212.0L1CAM, EDN3, EDNRB
25potassium44 25 1212.0GDNF, EDNRB, EDN3, BLVRB
26phosphatidylinositol4410.0RET, GFRA1, EDN3, EDNRB, GDNF
27heparan sulfate44 2510.9GDNF, GFRA1, RET, NRTN, ARTN
28alanine449.9GDNF, EDNRB, EDN3, RET, PHOX2B
29choline44 25 1211.9GDNF, BLVRB, RET, CALB2, NRTN
30zinc44 2510.9GDNF, EDN3, ECE1, ZEB2, CALB2
31cysteine449.8GDNF, EDNRB, ECE1, GFRA1, RET
32acetylcholine44 50 29 25 1213.7GDNF, EDNRB, EDN3, BLVRB, CALB2, NRTN
33nitric oxide44 25 1211.7GDNF, EDNRB, EDN3, BLVRB, ECE1, CALB2
34adenylate449.6GDNF, EDNRB, EDN3, BLVRB
35glucose449.5ECE1, BLVRB, EDN3, EDNRB, GDNF
36cyclic amp44 2510.5PHOX2B, RET, EDN3, GDNF
37calcium44 50 25 1212.4GDNF, EDNRB, EDN3, BLVRB, ECE1, RET
38glutamate449.3GDNF, EDNRB, EDN3, BLVRB, L1CAM, PSPN
39dopamine44 29 25 1211.8ARTN, GDNF, EDN3, BLVRB, GFRA1, RET
40tyrosine448.5GFRA1, BLVRB, EDN3, EDNRB, GDNF, L1CAM

GO Terms for genes affiliated with Hirschsprung's Disease

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Biological processes related to Hirschsprung's Disease according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1posterior midgut developmentGO:00749710.4RET, EDNRB
2vein smooth muscle contractionGO:01482610.3EDN3, EDNRB
3lymphocyte migration into lymphoid organsGO:09702110.3ARTN, RET
4melanocyte differentiationGO:03031810.2EDNRB, EDN3, SOX10
5regulation of systemic arterial blood pressure by endothelinGO:00310010.2ECE1, EDN3
6response to painGO:04826510.2EDNRB, RET
7Peyers patch morphogenesisGO:06114610.2RET, ARTN
8sympathetic nervous system developmentGO:04848510.1PHOX2B, GDNF
9vasoconstrictionGO:04231010.1EDNRB, EDN3
10peripheral nervous system developmentGO:00742210.0EDNRB, SOX10, ARTN
11cell surface receptor signaling pathwayGO:00716610.0L1CAM, GFRA1, EDN3, EDNRB
12enteric nervous system developmentGO:04848410.0GDNF, EDNRB, SOX10, RET, PHOX2B
13regulation of vasoconstrictionGO:0192299.9ECE1, EDN3
14nervous system developmentGO:0073999.7GDNF, EDNRB, L1CAM, PSPN, ZEB2, NRTN
15neural crest cell migrationGO:0017559.7NRTN, ZEB2, RET, SOX10, EDN3, EDNRB
16axon guidanceGO:0074119.6GDNF, GFRA1, L1CAM, PSPN, NRTN, ARTN

Molecular functions related to Hirschsprung's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peptide hormone bindingGO:01704610.2ECE1, EDNRB
2growth factor activityGO:0080839.4GDNF, PSPN, NRTN, ARTN
3receptor bindingGO:0051029.2ARTN, NRTN, PSPN, GFRA1, EDN3, GDNF

Products for genes affiliated with Hirschsprung's Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hirschsprung's Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet