MCID: HRS035
MIFTS: 59

Hirschsprung Disease 1 malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Hirschsprung Disease 1

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Hirschsprung Disease 1:

Name: Hirschsprung Disease 1 51 47 69 67
Hirschsprung Disease 11 23 24 25 53 26 49 38 67
Aganglionic Megacolon 11 23 47 24 25 53 69 26
Hscr 23 47 24 25 53
Hirschsprung's Disease 11 47 25 13
Congenital Intestinal Aganglionosis 25 53 67
Total Intestinal Aganglionosis 11 49
Hirschsprung Disease Type 1 47 26
Colonic Aganglionosis 69 49
Congenital Megacolon 11 25
Hirschsprung Disease, Susceptibility to, 1 12
Rare Form of Hirschsprung's Disease 47
Near-Total Intestinal Aganglionosis 47
 
Aganglionosis, Total Intestinal 47
Congenital Dilatation of Colon 67
Aganglionosis, Total Colonic 47
Transient Cerebral Ischemia 67
Transient Ischemic Attack 67
Pelvirectal Achalasia 11
Macrocolon 11
Hscr 1 47
Hscr1 69
Ntia 47
Mgc 69
Tia 47

Characteristics:

Orphanet epidemiological data:

53
hirschsprung disease:
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (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),1-5/10000 (Europe),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

HPO:

63
hirschsprung disease 1:
Inheritance: autosomal dominant inheritance
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 142623
Disease Ontology11 DOID:10487
ICD1029 Q43.1
MeSH38 D006627
NCIt44 C34700
Orphanet53 ORPHA388
MESH via Orphanet39 D006627
UMLS via Orphanet68 C0019569
ICD10 via Orphanet30 Q43.1

Summaries for Hirschsprung Disease 1

About this section
OMIM:51 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 hirschsprung disease, cardiac defects, and autonomic dysfunction and transient cerebral ischemia, 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 G-protein signaling_H-RAS regulation pathway and Signaling events regulated by Ret tyrosine kinase. Affiliated tissues include colon, thyroid and heart, and related mouse phenotypes are craniofacial and pigmentation.

Disease Ontology:11 A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.

Genetics Home Reference:25 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:47 Hirschsprung disease (HSCR) 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 start in very young children, but may occur later. The symptoms may vary with age, but often involve constipation and/or obstruction of the bowel. Other signs and symptoms include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth. There are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, defined by the region of the intestine lacking nerve cells (aganglionic segments). HSCR is considered a neurocristopathy, a disorder of cells and tissues derived from the neural crest, (a group of embryonic cells of the neural tube that forms several structures, of the body). HSCR may occur as an isolated finding or as part of a another disorder. Isolated HSCR is associated with mutations in several genes. Treatment is with surgery, removing the aganglionic intestinal segment.   Last updated: 10/17/2016

UniProtKB/Swiss-Prot:69 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 for NBK1439

Related Diseases for Hirschsprung Disease 1

About this section

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 71)
idRelated DiseaseScoreTop Affiliating Genes
1hirschsprung disease, cardiac defects, and autonomic dysfunction12.2
2transient cerebral ischemia11.8
3hirschsprung disease 211.7
4mini stroke11.6
5moyamoya disease11.1
6hirschsprung disease 611.0
7hirschsprung disease 911.0
8hirschsprung disease 311.0
9hirschsprung disease 511.0
10hirschsprung disease 811.0
11hirschsprung disease 711.0
12hirschsprung disease 411.0
13ifap syndrome with or without bresheck syndrome11.0
14intestinal pseudoobstruction, neuronal10.9
15stroke, ischemic10.8
16hirschsprung nail hypoplasia dysmorphism10.7EDN3, EDNRB, SOX10
17diabetes mellitus, noninsulin-dependent, 510.7EDN3, EDNRB, RET, SOX10
18shprintzen-goldberg syndrome10.6EDN3, EDNRB, GDNF, RET
19central hypoventilation syndrome, congenital10.6EDNRB, GDNF, GFRA1, RET
20hypogonadism cardiomyopathy10.6ACHE, GDNF, RET, SYP
21waardenburg syndrome, type 110.6EDN3, PAX3, SOX10
22multiple endocrine neoplasia iib10.6EDNRB, GDNF, GFRA1, RET
23conjunctival cancer10.6EDN3, EDNRB, PAX3, SOX10
24calabro syndrome10.6GDNF, RET
25dyschromatosis symmetrica hereditaria10.6EDN3, PAX3, SOX10
26vulvar melanoma10.6EDNRB, GDNF, RET, VIP
27medullary thyroid carcinoma, familial10.6EDNRB, GDNF, GFRA1, RET
28megacolon10.6
29placental insufficiency10.6EDNRB, L1CAM, RET, SOX10, SYP
30esophagitis10.5PHOX2B, SYP, VIP
31postgastrectomy syndrome10.5ACHE, EDN3, EDNRB, GDNF, NRTN, RET
32papillary serous adenocarcinoma10.5PHOX2B, SYP, VIP
33nonsyndromic congenital nail disorder 210.5EDN3, EDNRB, GDNF, GFRA1, RET, SYP
34benign focal amyotrophy10.4ECE1, PHOX2B
35pheochromocytoma10.4GDNF, RET, SYP, VIP
36parkinson disease, late-onset10.3GDNF, GFRA1, NRTN, PSPN
37ileocolitis10.3GDNF, GFRA1
38piebaldism10.1
39gnathomiasis10.0ACHE, EDN3, EDNRB, GDNF, GFRA1, NRTN
40cerebritis10.0
41pulmonary coin lesion10.0EDN3, EDNRB, GDNF, GFRA1, NRTN, PHOX2B
42atrial fibrillation10.0
43down syndrome9.9
44ring chromosome 109.9
45renal hypoplasia9.9
46carotid stenosis9.9
47patent foramen ovale9.9
48fabry disease9.8
49amaurosis fugax9.8
50duodenal obstruction9.8

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



Diseases related to hirschsprung disease 1

Symptoms for Hirschsprung Disease 1

About this section

Symptoms by clinical synopsis from OMIM:

142623

Clinical features from OMIM:

142623

Human phenotypes related to Hirschsprung Disease 1:

 63 53 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting63 53 hallmark (90%) Very frequent (99-80%) HP:0002017
2 constipation63 53 hallmark (90%) Very frequent (99-80%) HP:0002019
3 abdominal pain63 53 hallmark (90%) Very frequent (99-80%) HP:0002027
4 aganglionic megacolon63 53 hallmark (90%) Very frequent (99-80%) HP:0002251
5 intestinal obstruction63 53 hallmark (90%) Very frequent (99-80%) HP:0005214
6 weight loss63 53 typical (50%) Frequent (79-30%) HP:0001824
7 sensorineural hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000407
8 adducted thumb63 53 occasional (7.5%) Occasional (29-5%) HP:0001181
9 diarrhea63 53 occasional (7.5%) Occasional (29-5%) HP:0002014
10 short stature63 53 occasional (7.5%) Occasional (29-5%) HP:0004322
11 neoplasm of the thyroid gland63 53 occasional (7.5%) Occasional (29-5%) HP:0100031
12 cognitive impairment63 occasional (7.5%) HP:0100543
13 sepsis63 53 occasional (7.5%) Occasional (29-5%) HP:0100806
14 intestinal polyposis63 53 occasional (7.5%) Occasional (29-5%) HP:0200008
15 vomiting63 HP:0002013
16 abdominal distention63 HP:0003270
17 abnormality of enteric ganglion morphology63 HP:0004362
18 enterocolitis63 HP:0004387
19 total intestinal aganglionosis63 HP:0005241
20 intellectual disability53 Occasional (29-5%)
21 failure to thrive in infancy53 Occasional (29-5%)
22 functional abnormality of the gastrointestinal tract53 Very frequent (99-80%)

UMLS symptoms related to Hirschsprung Disease 1:


sleeplessness, vertigo/dizziness, chronic pain, amaurosis fugax, tremor, syncope, seizures, sciatica, pain, headache, chest pain, back pain, scotoma, scintillating

Drugs & Therapeutics for Hirschsprung Disease 1

About this section

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1VaccinesPhase 46428
2
Lactuloseapproved944618-18-211333
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
D-Lactulose
Lactulosa
Lactulose
Lactulosum
delta-Lactulose
lactulosa
lactulosum
3Gastrointestinal Agents8109
4Pharmaceutical Solutions7793
5Micronutrients5802
6Trace Elements5802
7Vitamins5095
8ColaNutraceuticalEarly Phase 11881
9lysineNutraceutical90

Interventional clinical trials:

(show all 19)
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
3Endoscopic Mucosal Resection (EMR) for Diagnosis of Hirschsprung's DiseaseUnknown statusNCT00671684Phase 1, Phase 2
4Probiotic Prophylaxis of Hirschprung's Disease Associated Enterocolitis (HAEC)CompletedNCT00630838Phase 2
5Endoscopic Mucosal Resection for the Diagnosis of a-Ganglionosis, a Controlled Prospective Trial (EDGE Trial)RecruitingNCT01515501Phase 2
6A New Scoring System Improves Diagnostic Accuracy of Intestinal Dysganglionosis --a Prospective StudyUnknown statusNCT02216994
7Fast-track Surgery in the Treatment of Hirschsprung's DiseaseUnknown statusNCT02350088
8Comparison of Circular(Soave) and Heart-shaped Anastomosis in Hirschsprung's Disease: A Prospective Multicenter Randomized Controlled TrialUnknown statusNCT02234219
9A Trial on Treatments of Hirschsprung Allied DiseaseUnknown statusNCT02212054Early Phase 1
10A Trial on Conservative Treatment for Infants' Hirschsprung DiseaseCompletedNCT01985646Early Phase 1
11A Trial on Probiotics in Preventing Hirschsprung's Disease Associated EntercolitisCompletedNCT01934959Early Phase 1
12Determination of Lysine Requirement in the Parenterally Fed NeonateCompletedNCT00779753
13Hirschsprung Disease Genetic StudyRecruitingNCT00478712
14Enhanced Recovery After Surgery In Hirschsprung DiseaseRecruitingNCT02776176
15Genetic Mosaicism in Hirschsprung's DiseaseRecruitingNCT01927809
16Identification Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung DiseaseRecruitingNCT02193685
17MICROPRUNG : Intestinal Microbiota Analysis in Patients With or Without Hirschsprung's Associated EnteroColitisRecruitingNCT02857205
183D High Resolution Anorectal Manometry in Children After Surgery for Anorectal DisordersRecruitingNCT02296008
19Electrophysiological 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

About this section

Genetic tests related to Hirschsprung Disease 1:

id Genetic test Affiliating Genes
1 Hirschsprung's Disease26
2 Hirschsprung Disease 126
3 Aganglionic Megacolon26
4 Hirschsprung Disease24 RET

Anatomical Context for Hirschsprung Disease 1

About this section

MalaCards organs/tissues related to Hirschsprung Disease 1:

35
Colon, Thyroid, Heart

Animal Models for Hirschsprung Disease 1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Hirschsprung Disease 1:

40 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538210.6ACHE, ECE1, EDNRB, L1CAM, PAX3, ZEB2
2MP:000118610.5ECE1, EDN3, EDNRB, L1CAM, PAX3, SEMA3C
3MP:000537910.5ECE1, EDNRB, GDNF, NRTN, PAX3, RET
4MP:000536910.5ACHE, ECE1, EDNRB, GDNF, GFRA1, NRTN
5MP:000301210.5ACHE, KCNN3, L1CAM, PAX3, RET, SEMA3D
6MP:000538110.4ECE1, EDN3, EDNRB, GDNF, GFRA1, NRTN
7MP:000538510.4ECE1, EDNRB, GDNF, PAX3, PHOX2B, RET
8MP:000287310.4ECE1, GFRA1, PAX3, PHOX2B, RET, SOX10
9MP:000538910.3ACHE, GDNF, KCNN3, L1CAM, NRTN, RET
10MP:000538810.3ACHE, EDNRB, KCNN3, PAX3, PHOX2B, RET
11MP:000538010.3ECE1, EDN3, EDNRB, GFRA1, PAX3, PHOX2B
12MP:000538410.2EDNRB, GDNF, GFRA1, L1CAM, PAX3, PHOX2B
13MP:00053869.9ACHE, EDN3, EDNRB, GDNF, GFRA1, L1CAM
14MP:00107689.6ACHE, ECE1, EDN3, EDNRB, GDNF, GFRA1
15MP:00053919.6ACHE, ECE1, EDNRB, L1CAM, NRTN, PAX3
16MP:00036319.4ACHE, ECE1, EDN3, EDNRB, GDNF, GFRA1

Publications for Hirschsprung Disease 1

About this section

Variations for Hirschsprung Disease 1

About this section

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

69 (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_006300rs562449603
6RETp.Arg287GlnVAR_006301
7RETp.Arg330GlnVAR_006302rs80236571
8RETp.Phe393LeuVAR_006303rs78098482
9RETp.Pro399LeuVAR_006304
10RETp.Arg475GlnVAR_006305rs138624658
11RETp.Cys609TyrVAR_006306rs77939446
12RETp.Cys609TrpVAR_006307rs377767396
13RETp.Cys618ArgVAR_006311rs76262710
14RETp.Cys618SerVAR_006313rs79781594
15RETp.Cys620ArgVAR_006316rs77316810
16RETp.Ser690ProVAR_006331
17RETp.Ser767ArgVAR_006334
18RETp.Arg873GlnVAR_006338
19RETp.Phe893LeuVAR_006339
20RETp.Arg897GlnVAR_006340rs76087194
21RETp.Lys907GluVAR_006341rs377767430
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_009475rs79890926
35RETp.Gln626LysVAR_009476
36RETp.Glu762GlnVAR_009481
37RETp.Tyr791PheVAR_009483rs77724903
38RETp.Arg813GlnVAR_009484
39RETp.Leu1061ProVAR_009490rs536486113
40RETp.Met1064ThrVAR_009491rs149513065
41RETp.Leu40ProVAR_009492
42RETp.Ser765ProVAR_009493rs75075748
43RETp.Arg114HisVAR_018154rs76397662
44RETp.Val145GlyVAR_035711
45RETp.Arg114CysVAR_067101rs747483905
46RETp.Pro155LeuVAR_067102
47RETp.Arg175ProVAR_067103
48RETp.Thr278AlaVAR_067104rs541929171
49RETp.Thr278ProVAR_067105
50RETp.Asp300AsnVAR_067106
51RETp.Ser316IleVAR_067107
52RETp.Ser339LeuVAR_067108rs774829203
53RETp.Asp353TyrVAR_067109
54RETp.Arg360GlnVAR_067110rs762472027
55RETp.Val397MetVAR_067111rs183729115
56RETp.Val412MetVAR_067112rs746970700
57RETp.Gly423ArgVAR_067113rs767601598
58RETp.Glu480LysVAR_067114rs537874538
59RETp.Glu595GlnVAR_067116
60RETp.Pro679LeuVAR_067117
61RETp.Arg694GlnVAR_067118rs141185224
62RETp.Asn783SerVAR_067119rs587778656
63RETp.Gly830ArgVAR_067120rs200127630
64RETp.Lys907ThrVAR_067121
65RETp.Phe961LeuVAR_067122
66RETp.Leu1052ValVAR_067123
67RETp.Tyr1062CysVAR_067124rs587778659

Clinvar genetic disease variations for Hirschsprung Disease 1:

5 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1RETNM_020975.4(RET): c.2293T> C (p.Ser765Pro)SNVrisk factorrs75075748GRCh37Chr 10, 43613829: 43613829
2RETNM_020975.4(RET): c.406G> T (p.Glu136Ter)SNVrisk factorrs79014735GRCh37Chr 10, 43597858: 43597858
3RETRET, 1-BP DEL, G1120deletionrisk factorChr na, -1: -1
4RETNM_020975.4(RET): c.2690G> A (p.Arg897Gln)SNVrisk factorrs76087194GRCh37Chr 10, 43615611: 43615611
5RETNM_020975.4(RET): c.2914A> G (p.Arg972Gly)SNVrisk factorrs76534745GRCh37Chr 10, 43619231: 43619231
6RETNM_020975.4(RET): c.95C> T (p.Ser32Leu)SNVrisk factorrs76764689GRCh37Chr 10, 43595928: 43595928
7RETNM_020975.4(RET): c.191C> T (p.Pro64Leu)SNVrisk factorrs77596424GRCh37Chr 10, 43596024: 43596024
8RETNM_020975.4(RET): c.538C> T (p.Arg180Ter)SNVrisk factorrs76449634GRCh37Chr 10, 43597990: 43597990
9RETNM_020975.4(RET): c.989G> A (p.Arg330Gln)SNVrisk factorrs80236571GRCh37Chr 10, 43601945: 43601945
10RETNM_020975.4(RET): c.1179C> A (p.Phe393Leu)SNVrisk factorrs78098482GRCh37Chr 10, 43604594: 43604594
11RETNM_020975.4(RET): c.938G> A (p.Arg313Gln)SNVrisk factorrs77702891GRCh37Chr 10, 43601894: 43601894
12RETNM_020975.4(RET): c.692G> A (p.Arg231His)SNVrisk factorrs79661516GRCh37Chr 10, 43600466: 43600466
13RETNM_020630.4(RET): c.3116C> T (p.Pro1039Leu)SNVPathogenicrs79853121GRCh37Chr 10, 43622099: 43622099
14RETNM_020630.4(RET): c.73+9277T> CSNVrisk factorrs2435357GRCh37Chr 10, 43582056: 43582056
15SOX10NM_001301131.1(POLR2F): c.294-27388_*10734deldeletionPathogenicGRCh38Chr 22, 38013680: 38051826
16SOX10NM_001301130.1(POLR2F): c.453-24294G> CSNVLikely pathogenicrs533778281GRCh37Chr 22, 38412781: 38412781
17SOX10NM_001301130.1(POLR2F): c.453-24860G> ASNVLikely pathogenicrs606231342GRCh38Chr 22, 38016208: 38016208
18RETNM_020630.4(RET): c.1880-2A> GSNVLikely pathogenicrs193922699GRCh37Chr 10, 43609926: 43609926
19DPYDNM_000110.3(DPYD): c.1905+1G> ASNVdrug responsers3918290GRCh37Chr 1, 97915614: 97915614

Copy number variations for Hirschsprung Disease 1 from CNVD:

6 (show top 50)    (show all 71)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1189511148000000149600000Copy numberSYT11Hirschsprung''s Disease
220073115300000153300000Copy numberMLLT11Hirschsprung''s Disease
32174411610000027800000Copy numberECE1Hirschsprung''s Disease
4277381212100000222100000Copy numberTGFB2Hirschsprung''s Disease
53148912780000030000000Copy numberPHACTR4Hirschsprung''s Disease
63219513440000046500000Copy numberELAVL4Hirschsprung''s Disease
73975610119100000121700000Copy numberGFRA1Hirschsprung''s Disease
84000310123100000127400000Copy numberHMX3Hirschsprung''s Disease
94058010130500000135374737Copy numberEBF3Hirschsprung''s Disease
1042900104210000053300000Copy numberRETHirschsprung''s Disease
1142990104289252242945803Copy numberRETHirschsprung''s Disease
1242991104289252242945803Copy numberRETHirschsprung''s Disease
1345473107130000074600000Copy numberKIAA1279Hirschsprung''s Disease
1446634108362507684735341DeletionNRG3Hirschsprung''s disease
155001811112800000115400000Copy numberCADM1Hirschsprung''s Disease
1654386114340000052900000Copy numberGNG3Hirschsprung''s Disease
1758336116710000069200000Copy numberPHOX2AHirschsprung''s Disease
186161712100000000102400000Copy numberASCL1Hirschsprung''s Disease
196227212107500000112800000Copy numberTBX3Hirschsprung''s Disease
2067116123650000056300000Copy numberPRPHHirschsprung''s Disease
2176415133110000039500000Copy numberMAB21L1Hirschsprung''s Disease
2279452137210000077800000Copy numberEDNRBHirschsprung''s Disease
23805341393800000100500000Copy numberZIC2Hirschsprung''s Disease
2484987143690000048300000Copy numberGNG2Hirschsprung''s Disease
2592697154270000055800000Copy numberSCG3Hirschsprung''s Disease
26106264168720000088827254Copy numberTUBB3Hirschsprung''s Disease
27111276173540000035600000Copy numberMAPTHirschsprung''s Disease
28112061173780000047600000Copy numberHOXB5Hirschsprung''s Disease
29119804181730000023300000Copy numberCDH2Hirschsprung''s Disease
301241571916900000Copy numberNRTNHirschsprung''s Disease
311374032144700000148400000Copy numberZFHX1BHirschsprung''s Disease
321387132169500000177700000Copy numberHOXD4Hirschsprung''s Disease
331395292182700000197100000Copy numberDLX1Hirschsprung''s Disease
341400882191600000197100000Copy numberTMEFF2Hirschsprung''s Disease
35154860204920000062435964Copy numberEDN3Hirschsprung''s Disease
36155271205440000062435964Copy numberSTMN3Hirschsprung''s Disease
37155663205730889357334442Copy numberEDN3Hirschsprung''s Disease
38158147213050000034700000Copy numberIFNGR2Hirschsprung''s Disease
39158148213050000034700000Copy numberIL10RBHirschsprung''s Disease
40158149213050000034700000Copy numberSOD1Hirschsprung''s Disease
41158150213050000034700000Copy numberSONHirschsprung''s Disease
42158780213670000038600000Copy numberCBR1Hirschsprung''s Disease
43158927213860000041400000Copy numberTTC3Hirschsprung''s Disease
44159193214140000046944323Copy numberCSTBHirschsprung''s Disease
45159196214140000046944323Copy numberPFKLHirschsprung''s Disease
46159198214140000046944323Copy numberTFF3Hirschsprung''s Disease
47164253223590000039300000Copy numberSOX10Hirschsprung''s Disease
481661213174200000Copy numberARHGEF3Hirschsprung''s Disease
491670593112800000115000000Copy numberTAGLN3Hirschsprung''s Disease
501708853161200000169200000Copy numberSERPINI1Hirschsprung''s Disease

Expression for genes affiliated with Hirschsprung Disease 1

About this section
Search GEO for disease gene expression data for Hirschsprung Disease 1.

Pathways for genes affiliated with Hirschsprung Disease 1

About this section

GO Terms for genes affiliated with Hirschsprung Disease 1

About this section

Cellular components related to Hirschsprung Disease 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intracellularGO:00056229.9EDN3, GDNF, GFRA1, NRTN, PSPN

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1vein smooth muscle contractionGO:001482611.0EDN3, EDNRB
2regulation of systemic arterial blood pressure by endothelinGO:000310011.0ECE1, EDN3
3posterior midgut developmentGO:000749711.0EDNRB, RET
4positive regulation of penile erectionGO:006040610.9EDNRB, VIP
5sympathetic nervous system developmentGO:004848510.9GDNF, PHOX2B
6vasoconstrictionGO:004231010.9EDN3, EDNRB
7regulation of vasoconstrictionGO:001922910.8ECE1, EDN3
8response to painGO:004826510.8EDNRB, RET
9mRNA stabilizationGO:004825510.8GDNF, VIP
10melanocyte differentiationGO:003031810.8EDN3, EDNRB, SOX10
11peripheral nervous system developmentGO:000742210.7EDNRB, GDNF, SOX10
12developmental pigmentationGO:004806610.7EDNRB, ZEB2
13enteric nervous system developmentGO:004848410.6EDNRB, GDNF, PHOX2B, RET, SOX10
14MAPK cascadeGO:000016510.2GDNF, GFRA1, NRTN, PSPN, RET
15neural crest cell migrationGO:000175510.1EDN3, EDNRB, GDNF, NRTN, RET, SEMA3C
16positive regulation of GTPase activityGO:004354710.1GDNF, GFRA1, NRTN, PSPN, RET
17neuron differentiationGO:00301829.9EDN3, PHOX2B, RET
18nervous system developmentGO:00073999.4ACHE, EDNRB, GDNF, GFRA1, L1CAM, NRTN

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

idNameGO IDScoreTop Affiliating Genes
1neuropilin bindingGO:003819110.8SEMA3C, SEMA3D
2semaphorin receptor bindingGO:003021510.8SEMA3C, SEMA3D
3Ras guanyl-nucleotide exchange factor activityGO:000508810.1GDNF, GFRA1, NRTN, PSPN, RET
4receptor bindingGO:00051029.9EDN3, GDNF, GFRA1, NRTN, PSPN

Sources for Hirschsprung Disease 1

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet