TIA
MCID: HRS001
MIFTS: 84

Hirschsprung's Disease (TIA) malady

Gastrointestinal diseases, Fetal diseases categories

Summaries for Hirschsprung's Disease

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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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

MalaCards: Hirschsprung's Disease, also known as hirschsprung disease, is related to central hypoventilation syndrome, congenital, with or without hirschsprung disease and thyroid medullary carcinoma, 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 Development EGFR signaling pathway and Axon guidance. The compounds tyrosine and dopamine have been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and bone, and related mouse phenotypes are nervous system and behavior/neurological.

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:46 202550, 142623, 613712, 613711, 600155 600156, 606874, 606875, 608462, 611644 more

GeneReviews summary for hirschsprung-ov

Aliases & Classifications for Hirschsprung's Disease

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Gastrointestinal diseases


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


Aliases & Descriptions:

hirschsprung's disease 8 42 21
hirschsprung disease 8 19 20 22 21 44 48 60
aganglionic megacolon 8 19 42 21 48
hscr 19 42 21 48
hirschsprung disease 1 42 46 60
congenital intestinal aganglionosis 21 48
aganglionosis, total intestinal 8 42
hirschsprung disease type 1 42 22
congenital megacolon 8 21
near-total intestinal aganglionosis 42
rare form of hirschsprung's disease 42
total intestinal aganglionosis 44
aganglionosis, total colonic 42
hirschsprungs disease 10
pelvirectal achalasia 8
aganglionosis 8
macrocolon 8
hscr 1 42
ntia 42
tia 42


External Ids:

Disease Ontology8 DOID:10487
MeSH34 D006627
NCIt39 C34700
MESH via Orphanet35 D006627
ICD10 via Orphanet26 Q43.1
SNOMED-CT via Orphanet57 204739008, 360436002
UMLS via Orphanet61 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 3 Hirschsprung Disease Type 2
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 176)
idRelated DiseaseScoreTop Affiliating Genes
1central hypoventilation syndrome, congenital, with or without hirschsprung disease30.4RET, PHOX2B
2thyroid medullary carcinoma30.3GDNF, RET, GFRA1
3microcephaly30.3ZEB2
4waardenburg syndrome type 430.2RET, EDN3, EDNRB, SOX10
5familial medullary thyroid carcinoma30.1GDNF
6intestinal obstruction29.9RET, GDNF, EDN3, EDNRB
7waardenburg's syndrome29.9RET, EDN3, EDNRB, SOX10
8intestinal pseudo-obstruction29.9ACHE
9neuroblastoma29.9PHOX2B
10renal agenesis29.9GFRA1, RET, GDNF
11pyloric stenosis29.9BLVRB
12neuropathy29.9SOX10
13transient cerebral ischemia10.6
14mowat-wilson syndrome10.5
15stroke, ischemic10.5
16mini stroke10.5
17chromosomal disease10.4
18rectal disease10.4
19congenital central hypoventilation syndrome10.4
20hirschsprung disease type 310.4
21cerebritis10.3
22down syndrome10.3
23intestinal disease10.3
24hirschsprung disease type d brachydactyly10.3
25hirschsprung disease ganglioneuroblastoma10.3
26hirschsprung disease type 210.3
27megacolon10.3
28colonic disease10.3
29thyroiditis10.3
30santos mateus leal syndrome10.3
31hirschsprung disease polydactyly heart disease10.3
32moyamoya disease10.2
33carotid stenosis10.2
34smith-lemli-opitz syndrome10.2
35wilson disease10.2
36peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease10.2
37mowat-wilson syndrome due to monosomy 2q2210.2
38patent foramen ovale10.2
39fabry disease10.2
40neuronitis10.2
41hydrocephalus10.2
42nervous system disease10.2
43hirschsprung nail hypoplasia dysmorphism10.2
44hirschsprung disease 410.2
45transient global amnesia10.1
46cerebral amyloid angiopathy10.1
47fecal incontinence10.1
48bardet-biedl syndrome10.1
49coloboma10.1
50lissencephaly10.1

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



Diseases related to hirschsprung's disease

Clinical Features for Hirschsprung's Disease

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

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

Clinical synopsis from OMIM:

142623

Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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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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32MalaCards
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MalaCards organs/tissues related to Hirschsprung's Disease:

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

Animal Models for Hirschsprung's Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hirschsprung's Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363110.9ACHE, CALB2, L1CAM, SOX10, ZEB2, PSPN
2MP:000538610.8CALB2, L1CAM, SOX10, PHOX2B, EDNRB, EDN3
3MP:000538110.7SOX10, EDNRB, EDN3, NRTN, ECE1, GDNF
4MP:001076810.6SOX10, ZEB2, PHOX2B, EDNRB, EDN3, ECE1
5MP:000118610.6L1CAM, SOX10, EDNRB, EDN3, ECE1
6MP:000538010.6SOX10, ZEB2, PHOX2B, EDNRB, EDN3, ECE1
7MP:000536910.5EDNRB, NRTN, ECE1, GDNF, RET, GFRA1
8MP:000539110.3L1CAM, ZEB2, PHOX2B, EDNRB, NRTN, ECE1

Publications for Hirschsprung's Disease

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50PubMed
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Articles related to Hirschsprung's Disease:

(show top 50)    (show all 645)
idTitleAuthorsYear
1
Laparoscopic-assisted pull-through for Hirschsprung's disease, a prospective repeated evaluation of functional outcome. (24314199)
2013
2
Classification and diagnostic criteria of variants of Hirschsprung's disease. (23943250)
2013
3
Health-related quality of life in children and adolescents undergoing surgery for Hirschsprung's disease and anorectal malformations. (23381703)
2013
4
Expression of dishevelled gene in Hirschsprung's disease. (24040443)
2013
5
Altered neuronal density and neurotransmitter expression in the ganglionated region of Ednrb null mice: implications for Hirschsprung's disease. (23360229)
2013
6
Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease. (23270508)
2012
7
Hirschsprung's disease. (23028095)
2012
8
Future therapies for Hirschsprung's disease. (22985842)
2012
9
Genomics approach to the analysis of bacterial communities dynamics in Hirschsprung's disease-associated enterocolitis: a pilot study. (20306059)
2010
10
Late presentation of Hirschsprung's disease as sigmoid colon volvulus: report of four cases and review of the literature. (19674018)
2010
11
Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome. (19302864)
2009
12
Increased incidence of Hirschsprung's disease in patients with hypoplastic left heart syndrome--a common neural crest-derived etiology? (19573668)
2009
13
Outcome of trans-anal posterior anorectal myectomy for the ultrashort segment Hirschsprung's disease--Benin City experience in five years. (19767909)
2009
14
Effects of botulinum toxin injection on anal achalasia after pull-through operations for Hirschsprung's disease: a 1-year follow-up study. (18836730)
2009
15
Total colonic aganglionosis and Hirschsprung's disease: shades of the same or different? (19572138)
2009
16
Detection of intestinal bifidobacteria and lactobacilli in patients with Hirschsprung's disease associated enterocolitis. (19693464)
2009
17
Long-term bowel function and quality of life in children with Hirschsprung's disease. (18485963)
2008
18
Enzyme histochemistry of classical and ultrashort Hirschsprung's disease]. (17294154)
2007
19
Anesthesia in an infant with uncorrected tetralogy of Fallot for transanal pull-through for Hirschsprung's disease. (16409542)
2006
20
Explaining change over time in quality of life of adult patients with anorectal malformations or Hirschsprung's disease. (16328611)
2006
21
Diagnostic scoring system of Hirschsprung's disease in the neonatal period. (16877220)
2006
22
Adult Hirschsprung's disease presenting as sigmoid volvulus: a case report and review of literature. (16969608)
2006
23
Is acetylcholinesterase activity in neorectum after laparoscopic endorectal pull-through method for Hirschsprung's disease a primary or a secondary condition? (16538003)
2006
24
The risk of medullary thyroid carcinoma in patients with Hirschsprung's disease. (17021738)
2006
25
Cow's milk allergy presenting Hirschsprung's disease-mimicking symptoms. (16189674)
2005
26
Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249. (15805159)
2005
27
Long-term clinical outcome in patients with Hirschsprung's disease and associated Down's syndrome. (15937820)
2005
28
Heart-shaped anastomosis for Hirschsprung's disease: Operative technique and long-term follow-up. (15633236)
2005
29
Diagnosis and outcome of Hirschsprung's disease: does age really matter? (15185108)
2004
30
The loss of calretinin expression indicates aganglionosis in Hirschsprung's disease. (15220363)
2004
31
Swenson revisited: a one-stage, transanal pull-through procedure for Hirschsprung's disease. (12891494)
2003
32
Hirschsprung's disease: the Australian Paediatric Surveillance Unit's experience. (12682752)
2003
33
Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome. (12628594)
2003
34
Colonic atresia and Hirschsprung's disease: importance of histologic examination of the distal bowel. (12677592)
2003
35
Primary pull-through for Hirschsprung's disease. (15001142)
2003
36
Mutation of RET gene in Chinese patients with Hirschsprung's disease. (12439935)
2002
37
Hirschsprung's disease: dissecting complexity in a pathogenetic network. (11955531)
2002
38
Histologic criteria for the diagnosis of allied diseases of Hirschsprung's disease in adults. (12101501)
2002
39
Morphometric evaluation of PGP9.5 and NCAM expressing nerve fibers in colonic muscle of patients with Hirschsprung's disease. (11854929)
2002
40
Incidence of RET mutations in patients with Hirschsprung's disease. (10646792)
2000
41
Morphological investigation of the enteric nervous system in Hirschsprung's disease and hypoganglionosis using whole-mount colon preparation. (10211651)
1999
42
Altered endothelin-3 and endothelin-B receptor mRNA expression in Hirschsprung's disease. (10466607)
1999
43
NADPH diaphorase-containing nerve fibers and neurons in the myenteric plexus are resistant to postmortem changes: studies in Hirschsprung's disease and normal autopsy material. (9593349)
1998
44
Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease. (8852658)
1996
45
Hirschsprung's disease, imperforate anus, and Down's syndrome: a case report. (8783095)
1996
46
Alterations in neurotrophin and neurotrophin-receptor localization in Hirschsprung's disease. (8943115)
1996
47
Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus. (7815416)
1994
48
Intestinal endocrine cells in Hirschsprung's disease. No reduction in density in aganglionic compared with ganglionic segment. (1976732)
1990
49
Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. (3172144)
1988
50
Hirschsprung's disease and Waardenburg's syndrome. (440906)
1979

Genetic Variations for Hirschsprung's Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hirschsprung's Disease:

62 (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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1BioGPS, 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:
12EMD Millipore, 51QIAGEN, 53Reactome, 37NCBI BioSystems Database, 55SinoBiological
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Pathways related to Hirschsprung's Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.6GFRA1, RET, GDNF, NRTN, PSPN
2
Hide members
10.5L1CAM, PSPN, NRTN, GDNF
3
Hide members
10.5PSPN, NRTN, GDNF, GFRA1
4
G-protein signaling H-RAS regulation pathway
Hide members
10.5GDNF, RET, GFRA1
510.5GFRA1, RET, GDNF
610.5GFRA1, GDNF, NRTN

Compounds for genes affiliated with Hirschsprung's Disease

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Hirschsprung's Disease according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1tyrosine4411.0CALB2, L1CAM, PSPN, PHOX2B, EDNRB, EDN3
2dopamine44 28 11 2414.0ACHE, CALB2, PSPN, PHOX2B, EDN3, NRTN
3glutamate4411.0CALB2, L1CAM, PSPN, EDNRB, EDN3, NRTN
4acetylcholine44 49 28 11 2414.9CALB2, EDNRB, EDN3, NRTN, BLVRB, GDNF
5choline44 11 2412.9CALB2, NRTN, BLVRB, GDNF, RET, ACHE
6phosphoramidon44 1111.9EDNRB, EDN3, ECE1
7heparan sulfate44 2411.9NRTN, GDNF, RET, GFRA1
8pd 1428934410.9EDNRB, EDN3
9bq6104410.9EDNRB, EDN3
10bq 302044 2811.9EDNRB, EDN3
11tezosentan4410.8EDNRB, EDN3
12irl 162044 2811.8EDNRB, EDN3
13nitric oxide44 11 2412.8GDNF, BLVRB, ECE1, EDN3, EDNRB, CALB2
14fr13931744 2811.8EDNRB, EDN3
15sarafotoxin4410.8EDNRB, EDN3
166-hydroxydopamine4410.8GDNF, NRTN, PSPN
17bq78844 2811.8EDNRB, EDN3
18indomethacin44 59 28 1113.8BLVRB, ECE1, EDN3, EDNRB
19bq12344 2811.8EDNRB, EDN3
20melatonin44 59 28 11 2414.7CALB2, EDNRB, GDNF
21bosentan44 1111.7EDN3, EDNRB
22norepinephrine44 11 2412.7PHOX2B, EDNRB, EDN3, GDNF
23nmda44 2811.7ACHE
24catecholamine4410.6RET, GDNF, BLVRB
25pd 98,0594410.6NRTN, ECE1, GDNF, RET
26vegf4410.6RET, GDNF, ECE1, EDN3, EDNRB
27rasagiline44 1111.5ACHE, GDNF
28potassium44 11 2412.4EDNRB, EDN3, BLVRB, GDNF
29thiorphan44 28 1112.2ECE1, EDN3

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 13)
idNameGO IDScoreTop Affiliating Genes
1neural crest cell migrationGO:00175510.9RET, GDNF, NRTN, EDN3, EDNRB, ZEB2
2nervous system developmentGO:00739910.8L1CAM, ZEB2, PSPN, EDNRB, NRTN, GDNF
3enteric nervous system developmentGO:04848410.8SOX10, PHOX2B, EDNRB, GDNF, RET
4posterior midgut developmentGO:00749710.7RET, EDNRB
5melanocyte differentiationGO:03031810.7SOX10, EDNRB, EDN3
6axon guidanceGO:00741110.7L1CAM, PSPN, NRTN, GDNF, GFRA1
7cell surface receptor signaling pathwayGO:00716610.7GFRA1, EDN3, EDNRB, L1CAM
8vein smooth muscle contractionGO:01482610.6EDNRB, EDN3
9regulation of systemic arterial blood pressure by endothelinGO:00310010.6ECE1, EDN3
10vasoconstrictionGO:04231010.5EDN3, EDNRB
11sympathetic nervous system developmentGO:04848510.5GDNF, PHOX2B
12response to painGO:04826510.4EDNRB, RET
13regulation of vasoconstrictionGO:01922910.2ECE1, EDN3

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

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:00510210.6GFRA1, GDNF, NRTN, EDN3, PSPN

Products for genes affiliated with Hirschsprung's Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hirschsprung's Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet