TIA
MCID: HRS001
MIFTS: 80

Hirschsprung's Disease (TIA) malady

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

Summaries for Hirschsprung's Disease

About this section
Sources:
9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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: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.

Description from OMIM:48 613711, 600155, 202550, 613712, 142623 600156, 606874, 606875, 608462, 611644 more

GeneReviews summary for hirschsprung-ov

Aliases & Classifications for Hirschsprung's Disease

About this section
Sources:
9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 20GeneReviews, 21GeneTests, 23GTR, 46Novoseek, 50Orphanet, 63UMLS, 48OMIM, 11DISEASES, 59SNOMED-CT, 36MeSH, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
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 9 44 22
hirschsprung disease 9 20 21 23 22 46 50 63
aganglionic megacolon 9 20 44 22 50
hscr 20 44 22 50
hirschsprung disease 1 44 48 63
congenital intestinal aganglionosis 22 50
aganglionosis, total intestinal 9 44
hirschsprung disease type 1 44 23
congenital megacolon 9 22
near-total intestinal aganglionosis 44
rare form of hirschsprung's disease 44
total intestinal aganglionosis 46
aganglionosis, total colonic 44
pelvirectal achalasia 9
hirschsprungs disease 11
aganglionosis 9
macrocolon 9
hscr 1 44
ntia 44
tia 44


External Ids:

Disease Ontology9 DOID:10487
MeSH36 D006627
NCIt41 C34700
MESH via Orphanet37 D006627
ICD10 via Orphanet27 Q43.1
SNOMED-CT via Orphanet60 204739008, 360436002
UMLS via Orphanet64 C0019569
ICD1026 Q43.1

Related Diseases for Hirschsprung's Disease

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

142623

Clinical features from OMIM:

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

Symptoms:

50 (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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hirschsprung's Disease

Drug clinical trials:

Search ClinicalTrials for Hirschsprung's Disease

Search NIH Clinical Center for Hirschsprung's Disease

Search CenterWatch for Hirschsprung's Disease

Genetic Tests for Hirschsprung's Disease

About this section
Sources:
21GeneTests, 23GTR
See all sources

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

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Hirschsprung's Disease:

34
Colon, Thyroid, Bone, Testes, Smooth muscle, Pituitary, Heart, Brain, Skin, Eye

Animal Models for Hirschsprung's Disease or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Hirschsprung's Disease:

38 (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

About this section
Sources:
53PubMed
See all sources

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

About this section
Sources:
65UniProtKB/Swiss-Prot, 8dbSNP
See all sources

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

65 (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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 39NCBI BioSystems Database, 61Thomson Reuters, 58SinoBiological, 56Reactome, 54QIAGEN
See all sources

Compounds for genes affiliated with Hirschsprung's Disease

About this section
Sources:
46Novoseek, 30IUPHAR, 12DrugBank, 62Tocris Bioscience, 25HMDB, 52PharmGKB
See all sources

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

(show all 40)
idCompoundScoreTop Affiliating Genes
1bq6104610.6EDNRB, EDN3
2pd 1428934610.6EDNRB, EDN3
3bq 302046 3011.6EDNRB, EDN3
4irl 162046 3011.6EDNRB, EDN3
5fr13931746 3011.6EDNRB, EDN3
6sarafotoxin4610.5EDNRB, EDN3
7tezosentan4610.5EDNRB, EDN3
8bq78846 3011.5EDN3, EDNRB
9bq12346 3011.5EDN3, EDNRB
10bosentan46 1211.5EDNRB, EDN3
11phosphoramidon46 1211.4EDNRB, EDN3, ECE1
12thiorphan46 30 1212.4ECE1, EDN3
13melatonin46 30 62 25 1214.3GDNF, EDNRB, CALB2
14pd 98,0594610.2GDNF, ECE1, RET, NRTN
15catecholamine4610.2RET, BLVRB, GDNF
16prostacyclin4610.2ECE1, EDN3, EDNRB
17norepinephrine46 25 1212.2PHOX2B, EDN3, EDNRB, GDNF
18cgmp46 3011.1EDNRB, EDN3, BLVRB
19aspartate4610.1GDNF, EDNRB, EDN3, RET
206-hydroxydopamine4610.1ARTN, NRTN, PSPN, GDNF
21indomethacin46 30 62 1213.0EDNRB, EDN3, BLVRB, ECE1
22vegf4610.0GDNF, EDNRB, EDN3, ECE1, RET
23quinolinic acid46 2511.0CALB2, BLVRB
24guanine46 25 1212.0L1CAM, EDN3, EDNRB
25potassium46 25 1212.0GDNF, EDNRB, EDN3, BLVRB
26phosphatidylinositol4610.0RET, GFRA1, EDN3, EDNRB, GDNF
27alanine469.9GDNF, EDNRB, EDN3, RET, PHOX2B
28heparan sulfate46 2510.9GDNF, GFRA1, RET, NRTN, ARTN
29choline46 25 1211.9GDNF, BLVRB, RET, CALB2, NRTN
30zinc46 2510.9GDNF, EDN3, ECE1, ZEB2, CALB2
31cysteine469.8GDNF, EDNRB, ECE1, GFRA1, RET
32acetylcholine46 52 30 25 1213.7GDNF, EDNRB, EDN3, BLVRB, CALB2, NRTN
33nitric oxide46 25 1211.7GDNF, EDNRB, EDN3, BLVRB, ECE1, CALB2
34adenylate469.6GDNF, EDNRB, EDN3, BLVRB
35glucose469.5ECE1, BLVRB, EDN3, EDNRB, GDNF
36cyclic amp46 2510.5PHOX2B, RET, EDN3, GDNF
37calcium46 52 25 1212.4GDNF, EDNRB, EDN3, BLVRB, ECE1, RET
38glutamate469.3GDNF, EDNRB, EDN3, BLVRB, L1CAM, PSPN
39dopamine46 30 25 1211.8ARTN, GDNF, EDN3, BLVRB, GFRA1, RET
40tyrosine468.5GFRA1, BLVRB, EDN3, EDNRB, GDNF, L1CAM

GO Terms for genes affiliated with Hirschsprung's Disease

About this section
Sources:
17Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hirschsprung's Disease

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet