TIA
MCID: HRS001
MIFTS: 80

Hirschsprung's Disease (TIA) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Fetal diseases categories
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Summaries for Hirschsprung's Disease

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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

MalaCards: Hirschsprung's Disease, also known as hirschsprung disease, is related to multiple endocrine neoplasia and central hypoventilation syndrome, and has symptoms including sepsis severe/septicemia, failure to thrive/difficulties for feeding in infancy/growth delay and short stature/dwarfism/nanism. 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:8 A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.

Genetics Home Reference:21 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.

Description from OMIM:47 613711, 600155, 202550, 613712, 142623 600156, 606874, 606875, 608462, 611644 more

GeneReviews summary for hirschsprung-ov

Aliases & Classifications for Hirschsprung's Disease

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8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 19GeneReviews, 20GeneTests, 22GTR, 45Novoseek, 49Orphanet, 62UMLS, 47OMIM, 10DISEASES, 58SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
hirschsprung disease:
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

hirschsprung's disease 8 43 21
hirschsprung disease 8 19 20 22 21 45 49 62
aganglionic megacolon 8 19 43 21 49
hscr 19 43 21 49
hirschsprung disease 1 43 47 62
congenital intestinal aganglionosis 21 49
aganglionosis, total intestinal 8 43
hirschsprung disease type 1 43 22
congenital megacolon 8 21
near-total intestinal aganglionosis 43
rare form of hirschsprung's disease 43
total intestinal aganglionosis 45
aganglionosis, total colonic 43
pelvirectal achalasia 8
hirschsprungs disease 10
aganglionosis 8
macrocolon 8
hscr 1 43
ntia 43
tia 43


External Ids:

Disease Ontology8 DOID:10487
MeSH35 D006627
NCIt40 C34700
MESH via Orphanet36 D006627
ICD10 via Orphanet26 Q43.1
SNOMED-CT via Orphanet59 204739008, 360436002
UMLS via Orphanet63 C0019569
ICD1025 Q43.1

Related Diseases for Hirschsprung's Disease

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17GeneCards, 18GeneDecks
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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 167)
idRelated DiseaseScoreTop Affiliating Genes
1multiple endocrine neoplasia30.7RET, GDNF
2central hypoventilation syndrome30.6GDNF
3central hypoventilation syndrome, congenital, with or without hirschsprung disease30.6RET, PHOX2B
4multiple endocrine neoplasia type 2a30.4GDNF, GFRA1, RET
5waardenburg syndrome type 430.4RET, SOX10, EDN3, EDNRB
6intestinal obstruction30.1GDNF, EDNRB, EDN3, RET
7familial medullary thyroid carcinoma30.1GDNF
8pyloric stenosis30.0BLVRB
9renal agenesis30.0RET, GFRA1, GDNF
10waardenburg's syndrome30.0RET, SOX10, EDN3, EDNRB
11transient cerebral ischemia10.6
12mini stroke10.5
13mowat-wilson syndrome10.5
14cerebritis10.4
15hirschsprung disease type 310.4
16down syndrome10.3
17congenital central hypoventilation syndrome10.3
18hirschsprung disease ganglioneuroblastoma10.3
19hirschsprung disease type 210.3
20hirschsprung disease type d brachydactyly10.3
21megacolon10.3
22mental retardation10.3
23thyroiditis10.3
24hirschsprung disease polydactyly heart disease10.3
25santos mateus leal syndrome10.3
26moyamoya disease10.3
27carotid stenosis10.3
28cleft palate10.2
29ring chromosome 1010.2
30microcephaly10.2
31smith-lemli-opitz syndrome10.2
32peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease10.2
33mowat-wilson syndrome due to monosomy 2q2210.2
34patent foramen ovale10.2
35fabry disease10.2
36neuronitis10.2
37hydrocephalus10.2
38hirschsprung nail hypoplasia dysmorphism10.2
39hirschsprung disease, cardiac defects, and autonomic dysfunction10.2
40hirschsprung disease 410.2
41hydrocephalus with hirschsprung disease10.2
42cerebral amyloid angiopathy10.1
43transient global amnesia10.1
44cerebrovascular disease10.1
45amaurosis fugax10.1
46renal dysplasia10.1RET, GDNF
47neuroma10.1GDNF, RET
48meconium ileus10.1
49parkinson's disease10.1NRTN, GDNF
50developmental disabilities10.1EDNRB, SOX10, RET

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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

142623

Clinical features from OMIM:

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

Symptoms:

49 (show all 17)
  • sepsis severe/septicemia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • short stature/dwarfism/nanism
  • thyroid neoplasm/tumor/carcinoma/cancer
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • 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
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease

Drugs & Therapeutics for Hirschsprung's Disease

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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20GeneTests, 22GTR
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Genetic tests related to Hirschsprung's Disease:

id Genetic test Affiliating Genes
1 Hirschsprung Disease20 RET
2 Hirschsprung Disease 122
3 Hirschsprung's Disease22

Anatomical Context for Hirschsprung's Disease

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33MalaCards
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MalaCards organs/tissues related to Hirschsprung's Disease:

33
Colon, Thyroid, Bone, Testes, Smooth muscle, Pituitary, Heart, Brain, Skin, Eye

Animal Models for Hirschsprung's Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hirschsprung's Disease:

37 (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:00053919.3EDNRB, 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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52PubMed
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Articles related to Hirschsprung's Disease:

(show top 50)    (show all 639)
idTitleAuthorsYear
1
Skip segment Hirschsprung's disease: a case report and novel management technique. (23948815)
2014
2
Transanal endorectal pull-through for classic segment Hirschsprung's disease: with or without laparoscopic mobilization of the rectosigmoid? (24074667)
2013
3
Laparoscopic-assisted pull-through for Hirschsprung's disease, a prospective repeated evaluation of functional outcome. (24314199)
2013
4
Classification and diagnostic criteria of variants of Hirschsprung's disease. (23943250)
2013
5
Expression patterns of CXCR4 in different colon tissue segments of patients with Hirschsprung's disease. (23769877)
2013
6
Impact of cow's milk allergy on enterocolitis associated with Hirschsprung's disease. (23982385)
2013
7
Anorectal function is not always normal after surgery in Hirschsprung's disease. (23208262)
2012
8
Smooth muscle proteins from Hirschsprung's disease facilitates stem cell differentiation. (22048648)
2012
9
The microenvironment in the Hirschsprung's disease gut supports myenteric plexus growth. (22315170)
2012
10
Fine mapping of the NRG1 Hirschsprung's disease locus. (21283760)
2011
11
Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease. (20089534)
2010
12
Transanal pull-through procedure for Hirschsprung's disease: a 5-year experience. (19224432)
2009
13
False positive reporting of Hirschsprung's disease in Alaska: an evaluation of Hirschsprung's disease surveillance, birth years 1996-2007. (19777544)
2009
14
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. (18443298)
2008
15
Single-stage transanal endorectal pull-through for Hirschsprung's disease: perspective from a developing country. (17336194)
2007
16
Application of a plain abdominal radiograph transition zone (PARTZ) in Hirschsprung's disease. (17257439)
2007
17
Our experience with transanal endorectal pull-through in Hirschsprung's disease. (17968790)
2007
18
Anesthesia in an infant with uncorrected tetralogy of Fallot for transanal pull-through for Hirschsprung's disease. (16409542)
2006
19
Mutation of RET proto-oncogene in Hirschsprung's disease and intestinal neuronal dysplasia. (16534860)
2006
20
Increased incidence of medullary thyroid carcinoma in patients treated for Hirschsprung's disease. (16226978)
2005
21
Laparoscopically assisted colorectal resection in Hirschsprung's disease. (16131479)
2005
22
Complete innervation profile of whole bowel resected at pull-through for Hirschsprung's disease. Unexpected findings. (16189675)
2005
23
Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: a report from the fourth International Symposium on Hirschsprung's disease and related neurocristopathies. (16226977)
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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64UniProtKB/Swiss-Prot, 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hirschsprung's Disease:

64 (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

Expression for genes affiliated with Hirschsprung's Disease

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2BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
50PathCards, 38NCBI BioSystems Database, 60Thomson Reuters, 57SinoBiological, 55Reactome, 53QIAGEN
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Compounds for genes affiliated with Hirschsprung's Disease

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Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 61Tocris Bioscience, 24HMDB, 51PharmGKB
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Compounds related to Hirschsprung's Disease according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1bq6104510.6EDNRB, EDN3
2pd 1428934510.6EDNRB, EDN3
3bq 302045 2911.6EDNRB, EDN3
4irl 162045 2911.6EDNRB, EDN3
5fr13931745 2911.6EDNRB, EDN3
6sarafotoxin4510.5EDNRB, EDN3
7tezosentan4510.5EDNRB, EDN3
8bq78845 2911.5EDN3, EDNRB
9bq12345 2911.5EDN3, EDNRB
10bosentan45 1111.5EDNRB, EDN3
11phosphoramidon45 1111.4EDNRB, EDN3, ECE1
12thiorphan45 29 1112.4ECE1, EDN3
13melatonin45 29 61 24 1114.3GDNF, EDNRB, CALB2
14pd 98,0594510.2GDNF, ECE1, RET, NRTN
15catecholamine4510.2RET, BLVRB, GDNF
16prostacyclin4510.2ECE1, EDN3, EDNRB
17norepinephrine45 24 1112.2PHOX2B, EDN3, EDNRB, GDNF
18cgmp45 2911.1EDNRB, EDN3, BLVRB
19aspartate4510.1GDNF, EDNRB, EDN3, RET
206-hydroxydopamine4510.1ARTN, NRTN, PSPN, GDNF
21indomethacin45 29 61 1113.0EDNRB, EDN3, BLVRB, ECE1
22vegf4510.0GDNF, EDNRB, EDN3, ECE1, RET
23quinolinic acid45 2411.0CALB2, BLVRB
24guanine45 24 1112.0L1CAM, EDN3, EDNRB
25potassium45 24 1112.0GDNF, EDNRB, EDN3, BLVRB
26phosphatidylinositol4510.0RET, GFRA1, EDN3, EDNRB, GDNF
27alanine459.9GDNF, EDNRB, EDN3, RET, PHOX2B
28heparan sulfate45 2410.9GDNF, GFRA1, RET, NRTN, ARTN
29choline45 24 1111.9GDNF, BLVRB, RET, CALB2, NRTN
30zinc45 2410.9GDNF, EDN3, ECE1, ZEB2, CALB2
31cysteine459.8GDNF, EDNRB, ECE1, GFRA1, RET
32acetylcholine45 51 29 24 1113.7GDNF, EDNRB, EDN3, BLVRB, CALB2, NRTN
33nitric oxide45 24 1111.7GDNF, EDNRB, EDN3, BLVRB, ECE1, CALB2
34adenylate459.6GDNF, EDNRB, EDN3, BLVRB
35glucose459.5ECE1, BLVRB, EDN3, EDNRB, GDNF
36cyclic amp45 2410.5PHOX2B, RET, EDN3, GDNF
37calcium45 51 24 1112.4GDNF, EDNRB, EDN3, BLVRB, ECE1, RET
38glutamate459.3GDNF, EDNRB, EDN3, BLVRB, L1CAM, PSPN
39dopamine45 29 24 1111.8ARTN, GDNF, EDN3, BLVRB, GFRA1, RET
40tyrosine458.5GFRA1, BLVRB, EDN3, EDNRB, GDNF, L1CAM

GO Terms for genes affiliated with Hirschsprung's Disease

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Sources:
16Gene Ontology
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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:03031810.3EDNRB, 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:00742210.1EDNRB, 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:0074119.5GDNF, 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:0080839.3GDNF, 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

Sources for Hirschsprung's Disease

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet