HSCR1
MCID: HRS035
MIFTS: 66

Hirschsprung Disease 1 (HSCR1)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hirschsprung Disease 1

MalaCards integrated aliases for Hirschsprung Disease 1:

Name: Hirschsprung Disease 1 58 54 76 30 6 74
Hirschsprung Disease 58 12 77 25 26 60 38 30 56 6 45 74
Aganglionic Megacolon 58 12 25 54 26 60 76 30 6
Hscr 58 25 54 26 60
Hirschsprung's Disease 12 54 26 15
Congenital Intestinal Aganglionosis 26 60 74
Total Intestinal Aganglionosis 12 56 6
Congenital Megacolon 12 77 26
Hirschsprung Disease, Susceptibility to, 1 58 13
Hirschsprung Disease, Protection Against 58 6
Colonic Aganglionosis 76 56
Hscr1 58 76
Mgc 58 76
Congenital Dilatation of Colon 74
Hirschsprung Disease, Type 1 41
Megacolon, Aganglionic; Mgc 58
Hirschsprung Disease Type 1 54
Hirschsprung Disease; Hscr 58
Megacolon, Aganglionic 58
Pelvirectal Achalasia 12
Macrocolon 12
Hscr 1 54

Characteristics:

Orphanet epidemiological data:

60
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;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
male predominance of 3:1 to 5:1
familial (10%) and isolated cases


HPO:

33
hirschsprung disease 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hirschsprung Disease 1

NIH Rare Diseases : 54 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 pass 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.  

MalaCards based summary : Hirschsprung Disease 1, also known as hirschsprung disease, is related to peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease and waardenburg syndrome, type 4a. An important gene associated with Hirschsprung Disease 1 is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are Calcium signaling pathway and Neuroactive ligand-receptor interaction. The drugs Vaccines and Cola have been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and heart, and related phenotypes are nausea and vomiting and constipation

Disease Ontology : 12 A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.

Genetics Home Reference : 26 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.

OMIM : 58 The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid (Amiel et al., 2008). Total colonic aganglionosis and total intestinal HSCR also occur. (142623)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Hirschsprung''s disease (HD or HSCR) is a birth defect in which nerves are missing from parts of the... more...

GeneReviews: NBK1439

Related Diseases for Hirschsprung Disease 1

Diseases in the Hirschsprung Disease 1 family:

Hirschsprung Disease 2 Hirschsprung Disease 5
Hirschsprung Disease 6 Hirschsprung Disease 7
Hirschsprung Disease 8 Hirschsprung Disease 9
Hirschsprung Disease 3 Hirschsprung Disease 4

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

(show top 50) (show all 261)
# Related Disease Score Top Affiliating Genes
1 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 34.5 SOX10 EDNRB EDN3
2 waardenburg syndrome, type 4a 33.7 SOX10 RET EDNRB EDN3
3 waardenburg syndrome, type 4b 33.7 SOX10 EDNRB EDN3
4 waardenburg syndrome type 4 33.2 SOX10 EDNRB EDN3
5 goldberg-shprintzen syndrome 33.0 RET GDNF EDNRB EDN3
6 hypoganglionosis 32.6 RET GDNF
7 central hypoventilation syndrome, congenital 32.6 RET GDNF EDNRB EDN3
8 multiple endocrine neoplasia, type iia 31.1 RET GFRA1 GDNF
9 waardenburg's syndrome 31.0 SOX10 RET EDNRB EDN3
10 constipation 30.9 RET GDNF EDNRB EDN3
11 megacolon 30.9 SOX10 RET NRTN GFRA1 GDNF EDNRB
12 thyroid carcinoma, familial medullary 30.9 RET GFRA1 GDNF EDNRB
13 cakut 30.7 RET GFRA1 GDNF
14 oligomeganephronia 30.6 RET GDNF
15 intestinal pseudo-obstruction 30.6 SOX10 RET EDNRB
16 multiple endocrine neoplasia, type iib 30.4 RET GFRA1 GDNF EDNRB
17 intestinal obstruction 30.3 RET NRTN GDNF EDNRB EDN3
18 hirschsprung disease, cardiac defects, and autonomic dysfunction 12.5
19 hirschsprung disease 3 12.5
20 hirschsprung disease with type d brachydactyly 12.5
21 hirschsprung disease 4 12.5
22 mowat-wilson syndrome 12.4
23 hirschsprung disease ganglioneuroblastoma 12.3
24 hirschsprung disease with polydactyly, renal agenesis, and deafness 12.3
25 hirschsprung disease with hypoplastic nails and dysmorphic facial features 12.2
26 hirschsprung disease polydactyly heart disease 12.2
27 hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly 12.1
28 waardenburg syndrome, type 4c 12.1
29 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect 12.0
30 ifap syndrome with or without bresheck syndrome 11.7
31 laurence prosser rocker syndrome 11.6
32 santos mateus leal syndrome 11.5
33 bardet-biedl syndrome 12 11.3
34 hirschsprung disease 2 11.3
35 hirschsprung disease 5 11.3
36 hirschsprung disease 6 11.3
37 hirschsprung disease 7 11.3
38 hirschsprung disease 8 11.3
39 hirschsprung disease 9 11.3
40 neuroblastoma 2 11.2
41 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 11.2
42 aganglionosis, total intestinal 11.1
43 ramos arroyo clark syndrome 11.1
44 corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation 11.0
45 corpus callosum, partial agenesis of, x-linked 11.0
46 al-gazali-donnai-mueller syndrome 11.0
47 ichthyosis follicularis atrichia photophobia syndrome 11.0
48 medullary sponge kidney 10.5 RET GDNF
49 drug-induced hearing loss 10.5 NRTN GFRA1 GDNF
50 cochlear disease 10.4 SOX10 EDNRB EDN3

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



Diseases related to Hirschsprung Disease 1

Symptoms & Phenotypes for Hirschsprung Disease 1

Human phenotypes related to Hirschsprung Disease 1:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002017
2 constipation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002019
3 abdominal pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002027
4 intestinal obstruction 60 33 hallmark (90%) Very frequent (99-80%) HP:0005214
5 aganglionic megacolon 60 33 hallmark (90%) Very frequent (99-80%) HP:0002251
6 weight loss 60 33 frequent (33%) Frequent (79-30%) HP:0001824
7 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
8 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
9 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
10 failure to thrive in infancy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001531
11 diarrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002014
12 sepsis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100806
13 adducted thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0001181
14 intestinal polyposis 60 33 occasional (7.5%) Occasional (29-5%) HP:0200008
15 neoplasm of the thyroid gland 60 33 occasional (7.5%) Occasional (29-5%) HP:0100031
16 vomiting 33 HP:0002013
17 abdominal distention 33 HP:0003270
18 functional abnormality of the gastrointestinal tract 60 Very frequent (99-80%)
19 enterocolitis 33 HP:0004387
20 abnormality of enteric ganglion morphology 33 HP:0004362

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
constipation
vomiting
abdominal distention
enterocolitis
failure to pass meconium in first 48 hours of life
more
Laboratory Abnormalities:
absent enteric ganglia beginning at the rectum and extends proximally by varying degrees
acetylcholinesterase staining reveals nerve trunk hypertrophy

Clinical features from OMIM:

142623

MGI Mouse Phenotypes related to Hirschsprung Disease 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.23 ECE1 EDN3 EDNRB GDNF GFRA1 NRTN

Drugs & Therapeutics for Hirschsprung Disease 1

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2 Cola Phase 3,Not Applicable,Early Phase 1
3
Lactulose Approved Not Applicable 4618-18-2 11333
4
Mineral oil Approved, Vet_approved Not Applicable 8042-47-5
5
Metronidazole Approved 443-48-1 4173
6 Emollients Not Applicable
7 Dermatologic Agents Not Applicable
8 Gastrointestinal Agents Not Applicable
9 Anesthetics Not Applicable
10 Vitamins Not Applicable
11 Trace Elements Not Applicable
12 Pharmaceutical Solutions Not Applicable
13 lysine Not Applicable
14 Micronutrients Not Applicable

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against Chickenpox Unknown status NCT02383797 Phase 4
2 Probiotics for Prophylaxis of Postoperative Hirschsprungs Associated Enterocolitis Recruiting NCT02343562 Phase 4
3 Effects of Butyrate Enemas on Postoperative Intestinal Mobility Disorders in Hirschsprung's Disease Not yet recruiting NCT03660176 Phase 3 butyrate enemas + routine management
4 Endoscopic Mucosal Resection (EMR) for Diagnosis of Hirschsprung's Disease Unknown status NCT00671684 Phase 1, Phase 2
5 Probiotic Prophylaxis of Hirschprung's Disease Associated Enterocolitis (HAEC) Completed NCT00630838 Phase 2 VSL#3;Placebo
6 Electrophysiological Activity of the Anorectum in Children Suspected of Hirschsprung Disease Unknown status NCT02342457 Not Applicable
7 A New Scoring System Improves Diagnostic Accuracy of Intestinal Dysganglionosis --a Prospective Study Unknown status NCT02216994 Not Applicable high dose lactulose;paraffin oil
8 Fast-track Surgery in the Treatment of Hirschsprung's Disease Unknown status NCT02350088 Not Applicable probiotics;placebo
9 Comparison of Circular(Soave) and Heart-shaped Anastomosis in Hirschsprung's Disease: A Prospective Multicenter Randomized Controlled Trial Unknown status NCT02234219 Not Applicable Probiotics
10 Hirschsprung Disease Genetic Study Recruiting NCT00478712
11 Genetic Mosaicism in Hirschsprung's Disease Recruiting NCT01927809
12 Enhanced Recovery After Surgery In Hirschsprung Disease Recruiting NCT02776176 Not Applicable
13 Neuropsychological Development and Functional Outcome Sin Children With Hirschsprung Disease at School Age Recruiting NCT03406741 Not Applicable
14 A Trial on Conservative Treatment for Infants' Hirschsprung Disease Completed NCT01985646 Early Phase 1 oral probiotic
15 Identification Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung Disease Recruiting NCT02193685
16 A Trial on Probiotics in Preventing Hirschsprung's Disease Associated Entercolitis Completed NCT01934959 Early Phase 1 Bifico
17 Laparoscopic Assisted Pull-through Versus Other Surgical Procedures for Treatment of Hirschsprung Disease Not yet recruiting NCT03269812 Not Applicable
18 Neuro-Immune Interactions in the Gut Recruiting NCT03617640
19 MICROPRUNG : Intestinal Microbiota Analysis in Patients With or Without Hirschsprung's Associated EnteroColitis Completed NCT02857205 Not Applicable
20 Endoscopic Mucosal Resection for the Diagnosis of a-Ganglionosis, a Controlled Prospective Trial (EDGE Trial) Completed NCT01515501 Not Applicable
21 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders Completed NCT02296008 Not Applicable
22 Prospective Evaluation of the Efficacy and Safety of Submucosal Endoscopy Enrolling by invitation NCT03626350
23 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries Recruiting NCT03666767
24 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753 Not Applicable
25 Neurocognition in Congenital Central Hypoventilation Syndrome (CCHS) Recruiting NCT03568669
26 International Congenital Central Hypoventilation Syndrome (CCHS) Registry Recruiting NCT03088020

Search NIH Clinical Center for Hirschsprung Disease 1

Cochrane evidence based reviews: hirschsprung disease

Genetic Tests for Hirschsprung Disease 1

Genetic tests related to Hirschsprung Disease 1:

# Genetic test Affiliating Genes
1 Hirschsprung Disease 30 NRTN
2 Hirschsprung Disease 1 30
3 Aganglionic Megacolon 30

Anatomical Context for Hirschsprung Disease 1

MalaCards organs/tissues related to Hirschsprung Disease 1:

42
Colon, Thyroid, Heart, Kidney, Brain, Testes, Appendix

Publications for Hirschsprung Disease 1

Articles related to Hirschsprung Disease 1:

(show top 50) (show all 690)
# Title Authors Year
1
Pleiotropic effect of common PHOX2B variants in Hirschsprung disease and neuroblastoma. ( 30799307 )
2019
2
The Runs: Sudden Copious Ostomy Output in an Acolonic Hirschsprung Disease Patient with Short Gut Syndrome. ( 30097892 )
2019
3
Optimal time for single-stage pull-through colectomy in infants with short-segment Hirschsprung disease. ( 30368570 )
2019
4
Combined Genetic Effects of RET and NRG1 Susceptibility Variants on Multifactorial Hirschsprung Disease in Indonesia. ( 30502294 )
2019
5
Management of Hirschsprung disease in Australia and New Zealand: a survey of the Australian and New Zealand Association of Paediatric Surgeons (ANZAPS). ( 30607542 )
2019
6
Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease. ( 30616633 )
2019
7
The relationship of eosinophilia with outcomes of Hirschsprung disease in children. ( 30666416 )
2019
8
Gut microbiota-mediated Gene-Environment interaction in the TashT mouse model of Hirschsprung disease. ( 30679567 )
2019
9
Association analysis of NOX5 polymorphisms with Hirschsprung disease. ( 30686516 )
2019
10
Long-Term Outcome of Hirschsprung Disease: Impact on Quality of Life and Social Condition at Adult Age. ( 30807458 )
2019
11
MPGES-1 derived PGE2 inhibits cell migration by regulating ARP2/3 in the pathogenesis of Hirschsprung disease. ( 30814036 )
2019
12
Increased miR-214 expression suppresses cell migration and proliferation in Hirschsprung disease by interacting with PLAGL2. ( 30822775 )
2019
13
Family reflections: Hirschsprung disease. ( 30836377 )
2019
14
Should we look for Hirschsprung disease in all children with meconium plug syndrome? ( 30879740 )
2019
15
Congenital central hypoventilation syndrome and Hirschsprung disease: A retrospective review of the French National Registry Center on 33 cases. ( 30879749 )
2019
16
Is Hirschsprung disease a purely neurological condition? A study of the Actin G2 smooth muscle gene in Hirschsprung disease. ( 30885557 )
2019
17
Infra-anastomotic Innervation of Residual Aganglionic Distal Rectum After Pull-through Surgery for Hirschsprung Disease. ( 30915893 )
2019
18
Demethylation of GFRA4 Promotes Cell Proliferation and Invasion in Hirschsprung Disease. ( 29634418 )
2018
19
Untreated Congenital Hypothyroidism Mimicking Hirschsprung Disease: A Puzzling Case in a One-Year-Old Child. ( 30050717 )
2018
20
Ayurvedic management of chronic constipation in Hirschsprung disease - A case study. ( 29853328 )
2018
21
A recalcitrant case of Jacquet erosive diaper dermatitis after surgery for Hirschsprung disease in a boy with Waardenburg-Shah syndrome. ( 30142718 )
2018
22
Advances in understanding the association between Down syndrome and Hirschsprung disease (DS-HSCR). ( 30218169 )
2018
23
Critical evaluation of the Hirschsprung-associated enterocolitis (HAEC) score: A multicenter study of 116 children with Hirschsprung disease. ( 28760457 )
2018
24
Increased Risk of Inflammatory Bowel Disease in a Population-based Cohort Study of Patients With Hirschsprung Disease. ( 28922260 )
2018
25
Digital pathology imaging and computer-aided diagnostics as a novel tool for standardization of evaluation of aganglionic megacolon (Hirschsprung disease) histopathology. ( 30175382 )
2018
26
Genetic Background of Hirschsprung Disease: A Bridge Between Basic Science and Clinical Application. ( 28543993 )
2018
27
Development of Nerve Fibre Diameter in Young Infants With Hirschsprung Disease. ( 28582312 )
2018
28
A population-based description of familial clustering of Hirschsprung disease. ( 28919319 )
2018
29
Prevalence, Risk Factors, and Prognosis of Postoperative Complications after Surgery for Hirschsprung Disease. ( 28956279 )
2018
30
Transitions in care from pediatric to adult general surgery: Evaluating an unmet need for patients with anorectal malformation and Hirschsprung disease. ( 29079318 )
2018
31
Duhamel operation vs. transanal endorectal pull-through procedure for Hirschsprung disease: A systematic review and meta-analysis. ( 29137805 )
2018
32
Diagnostic Role of Anal Sphincter Relaxation Integral in High-Resolution Anorectal Manometry for Hirschsprung Disease in Infants. ( 29212617 )
2018
33
Increased expression of Semaphorin 3A in the endothelin receptor-B null mouse model of Hirschsprung disease. ( 29224790 )
2018
34
RET somatic mutations are underrecognized in Hirschsprung disease. ( 29261189 )
2018
35
Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes. ( 29300049 )
2018
36
Image Processing and Analysis of Mucosal Calretinin Staining to Define the Transition Zone in Hirschsprung Disease: A Pilot Study. ( 29304518 )
2018
37
Association of NRG1 and AUTS2 genetic polymorphisms with Hirschsprung disease in a South Chinese population. ( 29377512 )
2018
38
Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus. ( 29379196 )
2018
39
The impact of down-regulated SK3 expressions on Hirschsprung disease. ( 29439660 )
2018
40
Predicting sexual problems in young adults with an anorectal malformation or Hirschsprung disease. ( 29454526 )
2018
41
Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing. ( 29483666 )
2018
42
Gli family zinc finger 1 is associated with endothelin receptor type B in Hirschsprung disease. ( 29484400 )
2018
43
Hirschsprung Disease beyond Infancy. ( 29487487 )
2018
44
Do RET somatic mutations play a role in Hirschsprung disease? ( 29493586 )
2018
45
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease. ( 29601828 )
2018
46
Gene expression profiling coupled with Connectivity Map database mining reveals potential therapeutic drugs for Hirschsprung disease. ( 29605259 )
2018
47
Intestinal Microbiota in Hirschsprung Disease. ( 29652728 )
2018
48
Anorectal Manometry May Reduce the Number of Rectal Suction Biopsy Procedures Needed to Diagnose Hirschsprung Disease. ( 29652729 )
2018
49
Common genetic variants in GAL, GAP43 and NRSN1 and interaction networks confer susceptibility to Hirschsprung disease. ( 29654647 )
2018
50
Colonic diverticulosis in an infant: A clue to total colonic Hirschsprung disease. ( 29680278 )
2018

Variations for Hirschsprung Disease 1

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

76 (show top 50) (show all 67)
# Symbol AA change Variation ID SNP ID
1 RET p.Ser32Leu VAR_006295 rs76764689
2 RET p.Pro64Leu VAR_006296 rs77596424
3 RET p.Cys142Ser VAR_006298
4 RET p.Arg231His VAR_006299 rs79661516
5 RET p.Glu251Lys VAR_006300 rs562449603
6 RET p.Arg287Gln VAR_006301
7 RET p.Arg330Gln VAR_006302 rs80236571
8 RET p.Phe393Leu VAR_006303 rs78098482
9 RET p.Pro399Leu VAR_006304
10 RET p.Arg475Gln VAR_006305 rs138624658
11 RET p.Cys609Tyr VAR_006306 rs77939446
12 RET p.Cys609Trp VAR_006307 rs377767396
13 RET p.Cys618Arg VAR_006311 rs76262710
14 RET p.Cys618Ser VAR_006313 rs79781594
15 RET p.Cys620Arg VAR_006316 rs77316810
16 RET p.Ser690Pro VAR_006331
17 RET p.Ser767Arg VAR_006334
18 RET p.Arg873Gln VAR_006338 rs145100471
19 RET p.Phe893Leu VAR_006339
20 RET p.Arg897Gln VAR_006340 rs76087194
21 RET p.Lys907Glu VAR_006341 rs377767430
22 RET p.Glu921Lys VAR_006343
23 RET p.Arg972Gly VAR_006346 rs76534745
24 RET p.Pro973Leu VAR_006347
25 RET p.Met980Thr VAR_006348
26 RET p.Pro20Leu VAR_009459
27 RET p.Arg77Cys VAR_009460
28 RET p.Phe174Ser VAR_009462
29 RET p.Arg180Pro VAR_009463
30 RET p.Cys197Tyr VAR_009464
31 RET p.Arg313Gln VAR_009465 rs77702891
32 RET p.Arg360Trp VAR_009467
33 RET p.Asn394Lys VAR_009468
34 RET p.Cys620Trp VAR_009475 rs79890926
35 RET p.Gln626Lys VAR_009476 rs125557516
36 RET p.Glu762Gln VAR_009481
37 RET p.Tyr791Phe VAR_009483 rs77724903
38 RET p.Arg813Gln VAR_009484 rs131873377
39 RET p.Leu1061Pro VAR_009490 rs536486113
40 RET p.Met1064Thr VAR_009491 rs149513065
41 RET p.Leu40Pro VAR_009492
42 RET p.Ser765Pro VAR_009493 rs75075748
43 RET p.Arg114His VAR_018154 rs76397662
44 RET p.Val145Gly VAR_035711
45 RET p.Arg114Cys VAR_067101 rs747483905
46 RET p.Pro155Leu VAR_067102
47 RET p.Arg175Pro VAR_067103
48 RET p.Thr278Ala VAR_067104 rs541929171
49 RET p.Thr278Pro VAR_067105
50 RET p.Asp300Asn VAR_067106

ClinVar genetic disease variations for Hirschsprung Disease 1:

6 (show top 50) (show all 203)
# Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020630.4(RET): c.539G> A (p.Arg180Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs370736139 GRCh37 Chromosome 10, 43597991: 43597991
2 RET NM_020630.4(RET): c.539G> A (p.Arg180Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs370736139 GRCh38 Chromosome 10, 43102543: 43102543
3 RET NM_020630.4(RET): c.2081G> A (p.Arg694Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141185224 GRCh37 Chromosome 10, 43610129: 43610129
4 RET NM_020630.4(RET): c.2081G> A (p.Arg694Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141185224 GRCh38 Chromosome 10, 43114681: 43114681
5 RET NM_020975.5(RET): c.3191T> C (p.Met1064Thr) single nucleotide variant Uncertain significance rs149513065 GRCh37 Chromosome 10, 43623563: 43623563
6 RET NM_020975.5(RET): c.3191T> C (p.Met1064Thr) single nucleotide variant Uncertain significance rs149513065 GRCh38 Chromosome 10, 43128115: 43128115
7 THBS4 NM_001306212.1(THBS4): c.1612C> T (p.Gln538Ter) single nucleotide variant Uncertain significance rs745310807 GRCh37 Chromosome 5, 79369143: 79369143
8 THBS4 NM_001306212.1(THBS4): c.1612C> T (p.Gln538Ter) single nucleotide variant Uncertain significance rs745310807 GRCh38 Chromosome 5, 80073320: 80073320
9 SEMA3D NM_152754.2(SEMA3D): c.592G> A (p.Glu198Lys) single nucleotide variant Uncertain significance rs549337695 GRCh37 Chromosome 7, 84694866: 84694866
10 SEMA3D NM_152754.2(SEMA3D): c.592G> A (p.Glu198Lys) single nucleotide variant Uncertain significance rs549337695 GRCh38 Chromosome 7, 85065550: 85065550
11 ZHX2 NM_014943.4(ZHX2): c.1682G> A (p.Arg561Gln) single nucleotide variant Uncertain significance rs138450443 GRCh37 Chromosome 8, 123965432: 123965432
12 ZHX2 NM_014943.4(ZHX2): c.1682G> A (p.Arg561Gln) single nucleotide variant Uncertain significance rs138450443 GRCh38 Chromosome 8, 122953192: 122953192
13 PLAU NM_002658.4(PLAU): c.172G> A (p.Gly58Arg) single nucleotide variant Likely benign rs55744193 GRCh37 Chromosome 10, 75672059: 75672059
14 PLAU NM_002658.4(PLAU): c.172G> A (p.Gly58Arg) single nucleotide variant Likely benign rs55744193 GRCh38 Chromosome 10, 73912301: 73912301
15 GFRA1 NM_005264.5(GFRA1): c.779T> C (p.Leu260Pro) single nucleotide variant Uncertain significance rs863223332 GRCh37 Chromosome 10, 117856267: 117856267
16 GFRA1 NM_005264.5(GFRA1): c.779T> C (p.Leu260Pro) single nucleotide variant Uncertain significance rs863223332 GRCh38 Chromosome 10, 116096756: 116096756
17 AHNAK NM_001620.2(AHNAK): c.7562C> G (p.Pro2521Arg) single nucleotide variant Uncertain significance rs143391519 GRCh37 Chromosome 11, 62294327: 62294327
18 AHNAK NM_001620.2(AHNAK): c.7562C> G (p.Pro2521Arg) single nucleotide variant Uncertain significance rs143391519 GRCh38 Chromosome 11, 62526855: 62526855
19 AHNAK NM_001620.2(AHNAK): c.6539A> G (p.Lys2180Arg) single nucleotide variant Uncertain significance rs200438956 GRCh37 Chromosome 11, 62295350: 62295350
20 AHNAK NM_001620.2(AHNAK): c.6539A> G (p.Lys2180Arg) single nucleotide variant Uncertain significance rs200438956 GRCh38 Chromosome 11, 62527878: 62527878
21 FAT3 NM_001008781.2(FAT3): c.6916G> A (p.Val2306Ile) single nucleotide variant Uncertain significance rs863223333 GRCh37 Chromosome 11, 92533095: 92533095
22 FAT3 NM_001008781.2(FAT3): c.6916G> A (p.Val2306Ile) single nucleotide variant Uncertain significance rs863223333 GRCh38 Chromosome 11, 92799929: 92799929
23 CNTN5 NM_014361.3(CNTN5): c.3016G> A (p.Val1006Ile) single nucleotide variant Uncertain significance rs200028794 GRCh37 Chromosome 11, 100211923: 100211923
24 CNTN5 NM_014361.3(CNTN5): c.3016G> A (p.Val1006Ile) single nucleotide variant Uncertain significance rs200028794 GRCh38 Chromosome 11, 100341191: 100341191
25 NTF3 NM_001102654.1(NTF3): c.265G> A (p.Gly89Arg) single nucleotide variant Uncertain significance rs540320780 GRCh37 Chromosome 12, 5603606: 5603606
26 NTF3 NM_001102654.1(NTF3): c.265G> A (p.Gly89Arg) single nucleotide variant Uncertain significance rs540320780 GRCh38 Chromosome 12, 5494440: 5494440
27 IRAK3 NM_007199.2(IRAK3): c.1461delC (p.Asn487Lysfs) deletion Uncertain significance rs776951445 GRCh37 Chromosome 12, 66641621: 66641621
28 IRAK3 NM_007199.2(IRAK3): c.1461delC (p.Asn487Lysfs) deletion Uncertain significance rs776951445 GRCh38 Chromosome 12, 66247841: 66247841
29 FBN1 NM_000138.4(FBN1): c.1547G> A (p.Arg516Gln) single nucleotide variant Uncertain significance rs775489067 GRCh37 Chromosome 15, 48805787: 48805787
30 FBN1 NM_000138.4(FBN1): c.1547G> A (p.Arg516Gln) single nucleotide variant Uncertain significance rs775489067 GRCh38 Chromosome 15, 48513590: 48513590
31 CREBBP NM_004380.2(CREBBP): c.7210G> A (p.Glu2404Lys) single nucleotide variant Uncertain significance rs863223334 GRCh37 Chromosome 16, 3777838: 3777838
32 CREBBP NM_004380.2(CREBBP): c.7210G> A (p.Glu2404Lys) single nucleotide variant Uncertain significance rs863223334 GRCh38 Chromosome 16, 3727837: 3727837
33 TGFB2 NM_001135599.3(TGFB2): c.272G> A (p.Arg91His) single nucleotide variant Conflicting interpretations of pathogenicity rs10482721 GRCh37 Chromosome 1, 218520315: 218520315
34 TGFB2 NM_001135599.3(TGFB2): c.272G> A (p.Arg91His) single nucleotide variant Conflicting interpretations of pathogenicity rs10482721 GRCh38 Chromosome 1, 218346973: 218346973
35 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 GRCh37 Chromosome 1, 97915614: 97915614
36 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 GRCh38 Chromosome 1, 97450058: 97450058
37 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 NCBI36 Chromosome 1, 97688202: 97688202
38 GLI3 NM_000168.5(GLI3): c.2119C> T (p.Pro707Ser) single nucleotide variant Uncertain significance rs121917716 GRCh37 Chromosome 7, 42007506: 42007506
39 GLI3 NM_000168.5(GLI3): c.2119C> T (p.Pro707Ser) single nucleotide variant Uncertain significance rs121917716 GRCh38 Chromosome 7, 41967908: 41967908
40 RET NM_020975.4(RET): c.2293T> C (p.Ser765Pro) single nucleotide variant risk factor rs75075748 GRCh37 Chromosome 10, 43613829: 43613829
41 RET NM_020975.4(RET): c.2293T> C (p.Ser765Pro) single nucleotide variant risk factor rs75075748 GRCh38 Chromosome 10, 43118381: 43118381
42 RET NM_020975.4(RET): c.406G> T (p.Glu136Ter) single nucleotide variant risk factor rs79014735 GRCh37 Chromosome 10, 43597858: 43597858
43 RET NM_020975.4(RET): c.406G> T (p.Glu136Ter) single nucleotide variant risk factor rs79014735 GRCh38 Chromosome 10, 43102410: 43102410
44 RET NM_020975.6(RET): c.1858T> C (p.Cys620Arg) single nucleotide variant Pathogenic rs77316810 GRCh37 Chromosome 10, 43609102: 43609102
45 RET NM_020975.6(RET): c.1858T> C (p.Cys620Arg) single nucleotide variant Pathogenic rs77316810 GRCh38 Chromosome 10, 43113654: 43113654
46 RET NM_020975.5(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
47 RET NM_020975.5(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh38 Chromosome 10, 43113655: 43113655
48 RET RET, 1-BP DEL, G1120 deletion risk factor
49 RET NM_020975.4(RET): c.2690G> A (p.Arg897Gln) single nucleotide variant risk factor rs76087194 GRCh37 Chromosome 10, 43615611: 43615611
50 RET NM_020975.4(RET): c.2690G> A (p.Arg897Gln) single nucleotide variant risk factor rs76087194 GRCh38 Chromosome 10, 43120163: 43120163

Copy number variations for Hirschsprung Disease 1 from CNVD:

7 (show top 50) (show all 71)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 18951 1 148000000 149600000 Copy number SYT11 Hirschsprung''s Disease
2 20073 1 15300000 153300000 Copy number MLLT11 Hirschsprung''s Disease
3 21744 1 16100000 27800000 Copy number ECE1 Hirschsprung''s Disease
4 27738 1 212100000 222100000 Copy number TGFB2 Hirschsprung''s Disease
5 31489 1 27800000 30000000 Copy number PHACTR4 Hirschsprung''s Disease
6 32195 1 34400000 46500000 Copy number ELAVL4 Hirschsprung''s Disease
7 39756 10 119100000 121700000 Copy number GFRA1 Hirschsprung''s Disease
8 40003 10 123100000 127400000 Copy number HMX3 Hirschsprung''s Disease
9 40580 10 130500000 135374737 Copy number EBF3 Hirschsprung''s Disease
10 42900 10 42100000 53300000 Copy number RET Hirschsprung''s Disease
11 42990 10 42892522 42945803 Copy number RET Hirschsprung''s Disease
12 42991 10 42892522 42945803 Copy number RET Hirschsprung''s Disease
13 45473 10 71300000 74600000 Copy number KIAA1279 Hirschsprung''s Disease
14 46634 10 83625076 84735341 Deletion NRG3 Hirschsprung''s disease
15 50018 11 112800000 115400000 Copy number CADM1 Hirschsprung''s Disease
16 54386 11 43400000 52900000 Copy number GNG3 Hirschsprung''s Disease
17 58336 11 67100000 69200000 Copy number PHOX2A Hirschsprung''s Disease
18 61617 12 100000000 102400000 Copy number ASCL1 Hirschsprung''s Disease
19 62272 12 107500000 112800000 Copy number TBX3 Hirschsprung''s Disease
20 67116 12 36500000 56300000 Copy number PRPH Hirschsprung''s Disease
21 76415 13 31100000 39500000 Copy number MAB21L1 Hirschsprung''s Disease
22 79452 13 72100000 77800000 Copy number EDNRB Hirschsprung''s Disease
23 80534 13 93800000 100500000 Copy number ZIC2 Hirschsprung''s Disease
24 84987 14 36900000 48300000 Copy number GNG2 Hirschsprung''s Disease
25 92697 15 42700000 55800000 Copy number SCG3 Hirschsprung''s Disease
26 106264 16 87200000 88827254 Copy number TUBB3 Hirschsprung''s Disease
27 111276 17 35400000 35600000 Copy number MAPT Hirschsprung''s Disease
28 112061 17 37800000 47600000 Copy number HOXB5 Hirschsprung''s Disease
29 119804 18 17300000 23300000 Copy number CDH2 Hirschsprung''s Disease
30 124157 19 1 6900000 Copy number NRTN Hirschsprung''s Disease
31 137403 2 144700000 148400000 Copy number ZFHX1B Hirschsprung''s Disease
32 138713 2 169500000 177700000 Copy number HOXD4 Hirschsprung''s Disease
33 139529 2 182700000 197100000 Copy number DLX1 Hirschsprung''s Disease
34 140088 2 191600000 197100000 Copy number TMEFF2 Hirschsprung''s Disease
35 154860 20 49200000 62435964 Copy number EDN3 Hirschsprung''s Disease
36 155271 20 54400000 62435964 Copy number STMN3 Hirschsprung''s Disease
37 155663 20 57308893 57334442 Copy number EDN3 Hirschsprung''s Disease
38 158147 21 30500000 34700000 Copy number IFNGR2 Hirschsprung''s Disease
39 158148 21 30500000 34700000 Copy number IL10RB Hirschsprung''s Disease
40 158149 21 30500000 34700000 Copy number SOD1 Hirschsprung''s Disease
41 158150 21 30500000 34700000 Copy number SON Hirschsprung''s Disease
42 158780 21 36700000 38600000 Copy number CBR1 Hirschsprung''s Disease
43 158927 21 38600000 41400000 Copy number TTC3 Hirschsprung''s Disease
44 159193 21 41400000 46944323 Copy number CSTB Hirschsprung''s Disease
45 159196 21 41400000 46944323 Copy number PFKL Hirschsprung''s Disease
46 159198 21 41400000 46944323 Copy number TFF3 Hirschsprung''s Disease
47 164253 22 35900000 39300000 Copy number SOX10 Hirschsprung''s Disease
48 166121 3 1 74200000 Copy number ARHGEF3 Hirschsprung''s Disease
49 167059 3 112800000 115000000 Copy number TAGLN3 Hirschsprung''s Disease
50 170885 3 161200000 169200000 Copy number SERPINI1 Hirschsprung''s Disease

Expression for Hirschsprung Disease 1

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

Pathways for Hirschsprung Disease 1

Pathways related to Hirschsprung Disease 1 according to KEGG:

38
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Neuroactive ligand-receptor interaction hsa04080

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.85 GDNF GFRA1 NRTN RET
2 11 GDNF GFRA1 RET
3 10.71 GDNF GFRA1 RET
4 10.37 GDNF GFRA1 NRTN
5 9.81 GDNF GFRA1 RET

GO Terms for Hirschsprung Disease 1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.89 EDNRB GDNF GFRA1 NRTN RET
2 MAPK cascade GO:0000165 9.78 GDNF GFRA1 NRTN RET
3 axon guidance GO:0007411 9.73 GDNF GFRA1 NRTN RET
4 regulation of vasoconstriction GO:0019229 9.54 ECE1 EDN3
5 response to pain GO:0048265 9.52 EDNRB RET
6 vasoconstriction GO:0042310 9.51 EDN3 EDNRB
7 peripheral nervous system development GO:0007422 9.5 EDNRB GDNF SOX10
8 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.46 GFRA1 RET
9 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.4 ECE1 EDN3
10 vein smooth muscle contraction GO:0014826 9.37 EDN3 EDNRB
11 melanocyte differentiation GO:0030318 9.33 EDN3 EDNRB SOX10
12 posterior midgut development GO:0007497 9.26 EDNRB RET
13 enteric nervous system development GO:0048484 9.26 EDNRB GDNF RET SOX10
14 neural crest cell migration GO:0001755 9.1 EDN3 EDNRB GDNF NRTN RET SOX10

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.26 EDN3 GDNF GFRA1 NRTN
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.92 GDNF GFRA1 NRTN RET

Sources for Hirschsprung Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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