MCID: HRS035
MIFTS: 59

Hirschsprung Disease 1 malady

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

Aliases & Classifications for Hirschsprung Disease 1

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 42NCIt, 29ICD9CM, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Hirschsprung Disease 1:

Name: Hirschsprung Disease 1 49 45 65 67
Hirschsprung Disease 10 21 22 23 47 51 24 65 36
Aganglionic Megacolon 10 21 45 22 23 51 67
Hscr 21 45 22 23 51
Hirschsprung's Disease 10 45 23 12
Congenital Intestinal Aganglionosis 23 51 65
Total Intestinal Aganglionosis 10 47
Hirschsprung Disease Type 1 45 24
Congenital Megacolon 10 23
Hirschsprung Disease, Susceptibility to, 1 11
Near-Total Intestinal Aganglionosis 45
Rare Form of Hirschsprung's Disease 45
 
Aganglionosis, Total Intestinal 45
Aganglionosis, Total Colonic 45
Transient Cerebral Ischemia 65
Transient Ischemic Attack 65
Pelvirectal Achalasia 10
Colonic Aganglionosis 67
Macrocolon 10
Hscr 1 45
Hscr1 67
Ntia 45
Mgc 67
Tia 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
hirschsprung disease:
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe),1-9/100000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-9/100000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Netherlands),1-9/100000 (Poland),1-9/100000 (Portugal),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (Ukraine),1-9/100000 (Austria),1-5/10000 (Malta),1-5/10000 (Norway),1-5/10000 (United Kingdom); Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

OMIM49 142623
Disease Ontology10 DOID:10487
NCIt42 C34700
MeSH36 D006627
ICD9CM29 751.3
Orphanet51 388
ICD10 via Orphanet28 Q43.1
MESH via Orphanet37 D006627
UMLS via Orphanet66 C0019569
ICD1027 Q43.1

Summaries for Hirschsprung Disease 1

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OMIM:49 The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is... (142623) more...

MalaCards based summary: Hirschsprung Disease 1, also known as hirschsprung disease, is related to multiple endocrine neoplasia iia and central hypoventilation syndrome, congenital, and has symptoms including nausea and vomiting, constipation and abdominal pain. An important gene associated with Hirschsprung Disease 1 is RET (Ret Proto-Oncogene), and among its related pathways are Signaling events regulated by Ret tyrosine kinase and G-protein signaling_H-RAS regulation pathway. Affiliated tissues include colon, thyroid and bone, and related mouse phenotypes are craniofacial and pigmentation.

Disease Ontology:10 A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.

Genetics Home Reference:23 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:45 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

UniProtKB/Swiss-Prot:67 Hirschsprung disease 1: A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.

GeneReviews summary for hirschsprung-ov

Related Diseases for Hirschsprung Disease 1

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Diseases in the Hirschsprung Disease 1 family:

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

Diseases related to Hirschsprung Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 346)
idRelated DiseaseScoreTop Affiliating Genes
1multiple endocrine neoplasia iia31.0EDNRB, GDNF, GFRA1, RET
2central hypoventilation syndrome, congenital31.0EDN3, EDNRB, GDNF, PHOX2B, RET
3multiple endocrine neoplasia iib30.8EDNRB, GDNF, GFRA1, RET
4waardenburg syndrome, type 130.3EDN3, MITF, PAX3, SOX10
5megacolon10.7
6transient cerebral ischemia10.7
7stroke, ischemic10.6
8cerebrovascular disease10.6
9ischemia10.6
10brain ischemia10.6
11mowat-wilson syndrome10.6
12hirschsprung disease 310.5
13piebaldism10.5
14hirschsprung disease 210.5
15hirschsprung disease 410.5
16hirschsprung disease, cardiac defects, and autonomic dysfunction10.4
17multiple endocrine neoplasia10.4
18encephalopathy10.4
19pcwh syndrome10.4
20visceral myopathy10.4
21mckusick-kaufman syndrome10.4
22duane-radial ray syndrome10.4
23cerebral creatine deficiency syndrome 110.4
24ring chromosome 1010.4
25down syndrome10.4
26hirschsprung disease ganglioneuroblastoma10.4
27hirschsprung disease type d brachydactyly10.4
28myocardial infarction10.4
29atrial fibrillation10.4
30hirschsprung disease 610.3
31hirschsprung disease 910.3
32hirschsprung disease 510.3
33waardenburg syndrome, type 4a10.3
34hirschsprung disease 810.3
35hirschsprung disease 710.3
36hirschsprung disease polydactyly heart disease10.3
37cerebritis10.3
38mini stroke10.3
39hypogonadism cardiomyopathy10.3GDNF, RET, SYP
40gastric cancer10.3
41ocular albinism with sensorineural deafness10.3MITF, SOX10
42waardenburg syndrome, type 4b10.3
43waardenburg syndrome, type 4c10.3
44thyroiditis10.3
45intracortical osteogenic sarcoma10.3L1CAM, SOX10, SYP
46contact dermatitis10.3EDNRB, GDNF, RET, VIP
47medullary thyroid carcinoma, familial10.3EDNRB, GDNF, GFRA1, RET
48adult brainstem gliosarcoma10.3RET, SYP, VIP
49intestinal perforation10.3EDN3, EDNRB, GDNF, NRTN, RET
50duodenitis10.3

Graphical network of the top 20 diseases related to Hirschsprung Disease 1:



Diseases related to hirschsprung disease 1

Symptoms for Hirschsprung Disease 1

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Symptoms by clinical synopsis from OMIM:

142623

Clinical features from OMIM:

142623

Symptoms:

 51 (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 Disease 1:

(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 vomiting HP:0002013
17 constipation HP:0002019
18 aganglionic megacolon HP:0002251
19 abdominal distention HP:0003270
20 abnormality of the enteric ganglia HP:0004362
21 enterocolitis HP:0004387
22 autosomal recessive inheritance HP:0000007
23 total intestinal aganglionosis HP:0005241

Drugs & Therapeutics for Hirschsprung Disease 1

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Drugs for Hirschsprung Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Lactuloseapproved894618-18-211333
Synonyms:
(2S,3R,4S,5R,6R)-2-[(2R,3S,4S,5R)-4,5-dihydroxy-2,5-bis(hydroxymethyl)oxolan-3-yl]oxy-6-(hydroxymethyl)oxane-3,4,5-triol
4-O-b-D-Galactopyranosyl-D-Fructofuranose
4-O-b-D-Galactopyranosyl-D-fructose
4-O-beta-D-Galactopyranosyl-D-Fructofuranose
4-O-beta-D-Galactopyranosyl-D-fructofuranose
4-O-beta-D-Galactopyranosyl-D-fructose
4-O-beta-delta-Galactopyranosyl-delta-Fructofuranose
4-O-beta-delta-Galactopyranosyl-delta-fructose
Bifiteral
Cephulac
 
Constulose
D-Lactulose
Enulose
Generlac
Kristalose
Lactulosa
Lactulose
Lactulosum
delta-Lactulose
lactulosa
lactulosum
2lysineNutraceutical70
3ColaNutraceuticalPhase 01690

Interventional clinical trials:

(show all 17)
idNameStatusNCT IDPhase
1Probiotics for Prophylaxis of Postoperative Hirschsprungs Associated EnterocolitisRecruitingNCT02343562Phase 4
2Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against ChickenpoxEnrolling by invitationNCT02383797Phase 4
3Probiotic Prophylaxis of Hirschprung's Disease Associated Enterocolitis (HAEC)CompletedNCT00630838Phase 2
4Endoscopic Mucosal Resection for the Diagnosis of a-Ganglionosis, a Controlled Prospective Trial (EDGE Trial)RecruitingNCT01515501Phase 2
5Endoscopic Mucosal Resection (EMR) for Diagnosis of Hirschsprung's DiseaseEnrolling by invitationNCT00671684Phase 1, Phase 2
6A Trial on Conservative Treatment for Infants' Hirschsprung DiseaseCompletedNCT01985646Phase 0
7A Trial on Probiotics in Preventing Hirschsprung's Disease Associated EntercolitisCompletedNCT01934959Phase 0
8Determination of Lysine Requirement in the Parenterally Fed NeonateCompletedNCT00779753
9Identification Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung DiseaseRecruitingNCT02193685
10Hirschsprung Disease Genetic StudyRecruitingNCT00478712
11Genetic Mosaicism in Hirschsprung's DiseaseRecruitingNCT01927809
12A New Scoring System Improves Diagnostic Accuracy of Intestinal Dysganglionosis --a Prospective StudyRecruitingNCT02216994
13Fast-track Surgery in the Treatment of Hirschsprung's DiseaseRecruitingNCT02350088
14Comparison of Circular(Soave) and Heart-shaped Anastomosis in Hirschsprung's Disease: A Prospective Multicenter Randomized Controlled TrialRecruitingNCT02234219
153D High Resolution Anorectal Manometry in Children After Surgery for Anorectal DisordersRecruitingNCT02296008
16A Trial on Treatments of Hirschsprung Allied DiseaseRecruitingNCT02212054Phase 0
17Electrophysiological Activity of the Anorectum in Children Suspected of Hirschsprung DiseaseNot yet recruitingNCT02342457

Search NIH Clinical Center for Hirschsprung Disease 1


Cochrane evidence based reviews: Hirschsprung Disease

Genetic Tests for Hirschsprung Disease 1

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Genetic tests related to Hirschsprung Disease 1:

id Genetic test Affiliating Genes
1 Hirschsprung Disease22 RET
2 Hirschsprung Disease 124
3 Hirschsprung's Disease24

Anatomical Context for Hirschsprung Disease 1

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MalaCards organs/tissues related to Hirschsprung Disease 1:

33
Colon, Thyroid, Bone

Animal Models for Hirschsprung Disease 1 or affiliated genes

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MGI Mouse Phenotypes related to Hirschsprung Disease 1:

38 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538210.0ECE1, EDNRB, L1CAM, MITF, PAX3, SOX10
2MP:000118610.0ECE1, EDN3, EDNRB, L1CAM, MITF, PAX3
3MP:00030129.9KCNN3, L1CAM, MITF, PAX3, RET, SYP
4MP:00053819.8ECE1, EDN3, EDNRB, GDNF, GFRA1, NRTN
5MP:00053699.8ECE1, EDNRB, GDNF, GFRA1, NRG1, NRTN
6MP:00028739.7ECE1, GFRA1, MITF, PAX3, PHOX2B, RET
7MP:00053889.6EDNRB, KCNN3, NRG1, PAX3, PHOX2B, RET
8MP:00107719.6EDN3, EDNRB, GFRA1, L1CAM, MITF, NRG1
9MP:00053859.5ECE1, EDNRB, GDNF, NRG1, PAX3, PHOX2B
10MP:00053919.5ECE1, EDNRB, L1CAM, MITF, NRG1, NRTN
11MP:00053849.5EDNRB, GDNF, GFRA1, L1CAM, NRG1, PAX3
12MP:00053809.4ECE1, EDN3, EDNRB, GFRA1, NRG1, PAX3
13MP:00053789.4EDNRB, GDNF, L1CAM, MITF, NRG1, PAX3
14MP:00053799.3ECE1, GDNF, MITF, NRG1, NRTN, PAX3
15MP:00053899.0GDNF, KCNN3, L1CAM, MITF, NRG1, NRTN
16MP:00053868.8EDN3, EDNRB, GDNF, GFRA1, L1CAM, MITF
17MP:00107688.7ECE1, EDN3, EDNRB, GDNF, GFRA1, KCNN3
18MP:00036318.1ECE1, EDN3, EDNRB, GDNF, GFRA1, KCNN3

Publications for Hirschsprung Disease 1

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Variations for Hirschsprung Disease 1

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UniProtKB/Swiss-Prot genetic disease variations for Hirschsprung Disease 1:

67 (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 Disease 1:

5 (show all 31)
id Gene Variation 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_020630.4(RET): c.1941C> T (p.Ile647=)single nucleotide variantrisk factorrs75225191GRCh37Chr 10, 43609989: 43609989
14RETNM_020975.4(RET): c.135G> A (p.Ala45=)single nucleotide variantrisk factorrs1800858GRCh37Chr 10, 43595968: 43595968
15RETNM_020630.4(RET): c.3116C> T (p.Pro1039Leu)single nucleotide variantPathogenicrs79853121GRCh37Chr 10, 43622099: 43622099
16RETNM_020630.4(RET): c.73+9277T> Csingle nucleotide variantrisk factorrs2435357GRCh37Chr 10, 43582056: 43582056
17NM_001301131.1(POLR2F): c.294-27388_*10734deldeletionPathogenicGRCh37Chr 22, 38409687: 38447833
18NM_001301130.1(POLR2F): c.453-24294G> Csingle nucleotide variantLikely pathogenicrs533778281GRCh37Chr 22, 38412781: 38412781
19NM_001301130.1(POLR2F): c.453-24860G> Asingle nucleotide variantLikely pathogenicrs606231342GRCh38Chr 22, 38016208: 38016208
20NM_000115.3(EDNRB): c.824G> A (p.Trp275Ter)single nucleotide variantrisk factorrs104894389GRCh37Chr 13, 78475320: 78475320
21EDNRBEDNRB, 1-BP INS, 878Tinsertionrisk factor
22EDNRBNM_000115.3(EDNRB): c.169G> A (p.Gly57Ser)single nucleotide variantrisk factorrs1801710GRCh37Chr 13, 78492540: 78492540
23NM_000115.3(EDNRB): c.914G> A (p.Ser305Asn)single nucleotide variantrisk factorrs5352GRCh37Chr 13, 78475230: 78475230
24EDNRBNM_001201397.1(EDNRB): c.43A> T (p.Lys15Ter)single nucleotide variantrisk factorrs267606780GRCh37Chr 13, 78493708: 78493708
25EDN3NM_207034.2(EDN3): c.49G> A (p.Ala17Thr)single nucleotide variantrisk factorrs11570255GRCh37Chr 20, 57875916: 57875916
26EDN3NM_207034.2(EDN3): c.670G> A (p.Ala224Thr)single nucleotide variantrisk factorrs11570351GRCh37Chr 20, 57899467: 57899467
27EDN3EDN3, 1-BP INS, 262Ginsertionrisk factor
28RETNM_020630.4(RET): c.1880-2A> Gsingle nucleotide variantLikely pathogenicrs193922699GRCh37Chr 10, 43609926: 43609926
29GDNFNM_000514.3(GDNF): c.448G> A (p.Asp150Asn)single nucleotide variantrisk factorrs76466003GRCh37Chr 5, 37815941: 37815941
30GDNFNM_000514.3(GDNF): c.460A> T (p.Thr154Ser)single nucleotide variantrisk factorrs104893891GRCh37Chr 5, 37815929: 37815929
31GDNFNM_000514.3(GDNF): c.633C> G (p.Ile211Met)single nucleotide variantrisk factorrs121918536GRCh37Chr 5, 37815756: 37815756

Expression for genes affiliated with Hirschsprung Disease 1

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Search GEO for disease gene expression data for Hirschsprung Disease 1.

Pathways for genes affiliated with Hirschsprung Disease 1

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Pathways related to Hirschsprung Disease 1 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1GDNF, GFRA1, RET
210.1GDNF, GFRA1, RET
3
TGF-beta Signaling Pathway (sino)
Show member pathways
10.1GDNF, GFRA1, RET
410.0GDNF, MITF, PAX3
510.0MITF, PAX3, SOX10
610.0GDNF, GFRA1, NRTN, PSPN
79.9MITF, PAX3, PHOX2B, SOX10
8
Show member pathways
9.9GDNF, GFRA1, NRTN, PSPN, RET

GO Terms for genes affiliated with Hirschsprung Disease 1

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Biological processes related to Hirschsprung Disease 1 according to GeneCards Suite gene sharing:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1posterior midgut developmentGO:000749711.1EDNRB, RET
2vein smooth muscle contractionGO:001482611.0EDN3, EDNRB
3regulation of systemic arterial blood pressure by endothelinGO:000310010.9ECE1, EDN3
4sympathetic nervous system developmentGO:004848510.9GDNF, PHOX2B
5positive regulation of penile erectionGO:006040610.9EDNRB, VIP
6vasoconstrictionGO:004231010.9EDN3, EDNRB
7mRNA stabilizationGO:004825510.8GDNF, VIP
8glial cell differentiationGO:001000110.7NRG1, PHOX2B
9response to painGO:004826510.7EDNRB, RET
10developmental pigmentationGO:004806610.7EDNRB, PAX3, ZEB2
11peripheral nervous system developmentGO:000742210.6EDNRB, GDNF, NRG1, SOX10
12enteric nervous system developmentGO:004848410.6EDNRB, GDNF, PHOX2B, RET, SOX10
13melanocyte differentiationGO:003031810.5EDN3, EDNRB, MITF, SOX10
14transmembrane receptor protein tyrosine kinase signaling pathwayGO:000716910.5NRG1, NRTN, RET
15cell surface receptor signaling pathwayGO:000716610.4EDN3, EDNRB, GFRA1, L1CAM
16neuron projection developmentGO:003117510.4GDNF, L1CAM, NRTN
17negative regulation of apoptotic processGO:004306610.2EDNRB, GDNF, MITF, SOX10, VIP
18positive regulation of cell proliferationGO:000828410.2EDN3, EDNRB, GDNF, PAX3, VIP
19heart developmentGO:000750710.0ECE1, NRG1, PAX3, SEMA3C
20neural crest cell migrationGO:00017559.9EDN3, EDNRB, GDNF, NRTN, PAX3, RET
21regulation of gene expressionGO:00104689.7EDN3, GDNF, MITF, PHOX2B
22positive regulation of transcription from RNA polymerase II promoterGO:00459449.5GDNF, MITF, NRG1, PAX3, PHOX2B, SOX10
23axon guidanceGO:00074119.5GDNF, GFRA1, L1CAM, NRG1, NRTN, PSPN
24nervous system developmentGO:00073999.5EDNRB, GDNF, GFRA1, L1CAM, NRG1, NRTN

Molecular functions related to Hirschsprung Disease 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1semaphorin receptor bindingGO:003021510.7SEMA3C, SEMA3D
2neuropilin bindingGO:003819110.7SEMA3C, SEMA3D
3chemorepellent activityGO:004549910.6NRG1, SEMA3C, SEMA3D
4transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:000370510.4MITF, PAX3, SOX10
5growth factor activityGO:000808310.1GDNF, NRG1, NRTN, PSPN
6receptor bindingGO:00051029.6EDN3, GDNF, GFRA1, NRG1, NRTN, PSPN

Sources for Hirschsprung Disease 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
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42NCIt
43NDF-RT
46NINDS
47Novoseek
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50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet