MCID: HRS035
MIFTS: 62

Hirschsprung Disease 1

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Hirschsprung Disease 1

MalaCards integrated aliases for Hirschsprung Disease 1:

Name: Hirschsprung Disease 1 57 53 75 29 6 73
Hirschsprung Disease 57 12 76 24 25 59 37 29 55 6 44 73
Aganglionic Megacolon 57 12 24 53 25 59 75 29 6
Hscr 57 24 53 25 59
Hirschsprung's Disease 12 53 25 15
Congenital Intestinal Aganglionosis 25 59 73
Congenital Megacolon 12 76 25
Hirschsprung Disease, Susceptibility to, 1 57 13
Hirschsprung Disease, Protection Against 57 6
Total Intestinal Aganglionosis 12 55
Colonic Aganglionosis 75 55
Hscr1 57 75
Mgc 57 75
Congenital Dilatation of Colon 73
Hirschsprung Disease, Type 1 40
Megacolon, Aganglionic; Mgc 57
Hirschsprung Disease Type 1 53
Hirschsprung Disease; Hscr 57
Megacolon, Aganglionic 57
Pelvirectal Achalasia 12
Macrocolon 12
Hscr 1 53

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant

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


HPO:

32
hirschsprung disease 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hirschsprung Disease 1

NIH Rare Diseases : 53 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 central hypoventilation syndrome, congenital and multiple endocrine neoplasia, type iia. 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 Lactulose have been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and heart, and related phenotypes are intellectual disability and nausea and vomiting

OMIM : 57 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 : 75 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.

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.

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

Wikipedia : 76 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 all 41)
# Related Disease Score Top Affiliating Genes
1 central hypoventilation syndrome, congenital 32.8 EDN3 EDNRB GDNF RET
2 multiple endocrine neoplasia, type iia 31.5 GDNF GFRA1 RET
3 megacolon 31.3 EDN3 EDNRB GDNF GFRA1 NRTN RET
4 aganglionosis, total intestinal 11.4
5 hirschsprung disease 2 11.1
6 hirschsprung disease 5 11.1
7 hirschsprung disease 6 11.1
8 hirschsprung disease 7 11.1
9 hirschsprung disease 8 11.1
10 hirschsprung disease 9 11.1
11 hirschsprung disease 3 11.0
12 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 11.0
13 medullary sponge kidney 11.0 GDNF RET
14 hypoganglionosis 10.9 GDNF RET
15 waardenburg syndrome, type 2e 10.9 EDNRB SOX10
16 multiple endocrine neoplasia, type iib 10.9 EDNRB GDNF GFRA1 RET
17 intestinal pseudo-obstruction 10.9 EDNRB RET SOX10
18 waardenburg syndrome type 4 10.9 EDN3 EDNRB SOX10
19 waardenburg syndrome, type 4a 10.8 EDN3 EDNRB RET SOX10
20 cochlear disease 10.8 EDN3 EDNRB SOX10
21 waardenburg syndrome, type 1 10.8 EDN3 SOX10
22 thyroid carcinoma, familial medullary 10.8 EDNRB GDNF GFRA1 RET
23 goldberg-shprintzen syndrome 10.8 EDN3 EDNRB GDNF RET
24 waardenburg's syndrome 10.7 EDN3 EDNRB RET SOX10
25 constipation 10.7 EDN3 EDNRB GDNF RET
26 thyroid cancer, nonmedullary, 1 10.7 HOTTIP MEG3 RET
27 thyroid cancer, nonmedullary, 2 10.7 EDNRB GDNF RET
28 intestinal obstruction 10.6 EDN3 EDNRB GDNF NRTN RET
29 tietz albinism-deafness syndrome 10.6 EDN3 SOX10
30 malignant glioma 10.5 HOTTIP MEG3
31 colonic disease 10.5 EDN3 EDNRB GDNF GFRA1 NRTN RET
32 jejunoileitis 10.3 GDNF GFRA1
33 multiple endocrine neoplasia 10.1
34 duodenal obstruction 9.9
35 duodenitis 9.9
36 ileocolitis 9.8
37 neuropathy, hereditary sensory and autonomic, type iii 9.7
38 enterocolitis 9.7
39 mucositis 9.7
40 compartment syndrome 9.7
41 dysautonomia 9.7

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



Diseases related to Hirschsprung Disease 1

Symptoms & Phenotypes for Hirschsprung Disease 1

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Hirschsprung Disease 1:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
2 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
3 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
4 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
5 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
6 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
7 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
8 failure to thrive in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001531
9 intestinal obstruction 59 32 hallmark (90%) Very frequent (99-80%) HP:0005214
10 aganglionic megacolon 59 32 hallmark (90%) Very frequent (99-80%) HP:0002251
11 diarrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002014
12 sepsis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100806
13 adducted thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001181
14 intestinal polyposis 59 32 occasional (7.5%) Occasional (29-5%) HP:0200008
15 neoplasm of the thyroid gland 59 32 occasional (7.5%) Occasional (29-5%) HP:0100031
16 vomiting 32 HP:0002013
17 abdominal distention 32 HP:0003270
18 functional abnormality of the gastrointestinal tract 59 Very frequent (99-80%)
19 enterocolitis 32 HP:0004387
20 abnormality of enteric ganglion morphology 32 HP:0004362

MGI Mouse Phenotypes related to Hirschsprung Disease 1:

46
# 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 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2
Lactulose Approved Not Applicable 4618-18-2 11333
3 Gastrointestinal Agents Not Applicable
4 Micronutrients Not Applicable
5 Trace Elements Not Applicable
6 Pharmaceutical Solutions Not Applicable
7 Vitamins Not Applicable
8 Anesthetics Not Applicable
9 Cola Nutraceutical Not Applicable,Early Phase 1
10 lysine Nutraceutical Not Applicable

Interventional clinical trials:

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

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 29 NRTN
2 Hirschsprung Disease 1 29 RET
3 Aganglionic Megacolon 29

Anatomical Context for Hirschsprung Disease 1

MalaCards organs/tissues related to Hirschsprung Disease 1:

41
Colon, Thyroid, Heart, Kidney, Brain, Testes, Eye

Publications for Hirschsprung Disease 1

Articles related to Hirschsprung Disease 1:

(show top 50) (show all 300)
# Title Authors Year
1
Demethylation of GFRA4 Promotes Cell Proliferation and Invasion in Hirschsprung Disease. ( 29634418 )
2018
2
Cumulative Risk Impact of RET, SEMA3, and NRG1 Polymorphisms Associated With Hirschsprung Disease in Han Chinese. ( 27203398 )
2017
3
Potential association between ITPKC genetic variations and Hirschsprung disease. ( 28664405 )
2017
4
A Newly Recognized Association of Hirschsprung Disease With Cri-du-chat Syndrome. ( 28050027 )
2017
5
The anal canal is the fine line between "fecal incontinence and colitis" after a pull-through for Hirschsprung disease. ( 28941931 )
2017
6
Colonic Adventitial Fibromuscular Dysplasia: A Nonspecific Arteriopathy Associated With Hirschsprung Disease and Other Obstructive Disorders. ( 29108502 )
2017
7
Utility of Peripherin Versus MAP-2 and Calretinin in the Evaluation of Hirschsprung Disease. ( 26469323 )
2016
8
Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease. ( 26879676 )
2016
9
Contribution of Common Variants in GABRG2, RELN and NRG3 and Interaction Networks to the Risk of Hirschsprung Disease. ( 27889765 )
2016
10
Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease. ( 27693352 )
2016
11
RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling. ( 26395553 )
2016
12
Damaged anal canal as a cause of fecal incontinence after surgical repair for Hirschsprung disease - a preventable and under-reported complication. ( 27624566 )
2016
13
Suppressive action of miRNAs to ARP2/3 complex reduces cell migration and proliferation via RAC isoforms in Hirschsprung disease. ( 26991540 )
2016
14
Potential association of VAMP5 polymorphisms with total colonic aganglionosis in Hirschsprung disease. ( 26970437 )
2016
15
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. ( 27702942 )
2016
16
Fatal Toxic Megacolon in a Child of Hirschsprung Disease. ( 28208866 )
2016
17
Solitary Rectal Ulcer Syndrome as a Sign of Unrecognized Hirschsprung Disease. ( 27402331 )
2016
18
Deregulation of the planar cell polarity genes CELSR3 and FZD3 in Hirschsprung disease. ( 27619161 )
2016
19
Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation. ( 27511161 )
2016
20
Negative feedback circuitry between MIR143HG and RBM24 in Hirschsprung disease. ( 27565737 )
2016
21
Calretinin-Immunoreactive Hypoinnervation in Down Syndrome (DS): Report of an Infant with Very Short-Segment Hirschsprung Disease and Comparison to Biopsy Findings in 20 Normal Infants and 11 Infants with DS and Chronic Constipation. ( 26230373 )
2016
22
Downregulated Expression of Long Non-Coding RNA LOC101926975 Impairs both Cell Proliferation and Cell Cycle and Its Clinical Implication in Hirschsprung Disease Patients. ( 27076786 )
2016
23
Two Cases of Chronic Intestinal Pseudo-obstruction: A Comparison of Staining Characteristics of Enteric Visceral Myopathy With Hirschsprung Disease. ( 26808129 )
2016
24
Association Analysis of SLC6A20 Polymorphisms With Hirschsprung Disease. ( 26049783 )
2016
25
Effects of SEMA3 polymorphisms in Hirschsprung disease patients. ( 27469503 )
2016
26
HIRSCHSPRUNG DISEASE ASSOCIATED WITH MOWAT-WILSON SYNDROME: REPORT OF A CASE. ( 25795985 )
2015
27
Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Disease in a Chinese Population. ( 25424204 )
2015
28
SRY interference of normal regulation of the RET gene suggests a potential role of the Y-chromosome gene in sexual dimorphism in Hirschsprung disease. ( 25267720 )
2015
29
Down-regulation of miR-206 is associated with Hirschsprung disease and suppresses cell migration and proliferation in cell models. ( 25792468 )
2015
30
Identification of GLI Mutations in Patients With Hirschsprung Disease That Disrupt Enteric Nervous System Development in Mice. ( 26261006 )
2015
31
Genetic variants of IL-11 associated with risk of Hirschsprung disease. ( 26172388 )
2015
32
Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms. ( 25666438 )
2015
33
Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patients. ( 26191260 )
2015
34
Association of joubert syndrome and hirschsprung disease. ( 25638189 )
2015
35
Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability. ( 25839327 )
2015
36
Evaluation of Calretinin as a New Marker in the Diagnosis of Hirschsprung Disease. ( 26196001 )
2015
37
TGF-I^1, Ghrelin, Neurexin, and Neuroligin are predictive biomarkers for postoperative prognosis of laparoscopic surgery in children with Hirschsprung disease. ( 25399301 )
2015
38
The Surgical Treatment of Toxic Megacolon in Hirschsprung Disease. ( 26181500 )
2015
39
Long none coding RNA HOTTIP/HOXA13 act as synergistic role by decreasing cell migration and proliferation in Hirschsprung disease. ( 26043692 )
2015
40
Hirschsprung disease and hepatoblastoma: case report of a rare association. ( 26465815 )
2015
41
Children With Anorectal Malformations, Hirschsprung Disease, and Their Siblings: Proxy Reports and Self-Reports. ( 25988556 )
2015
42
Effect of RET c.2307T>G Polymorphism on the Outcomes of Posterior Sagittal Neurectomy for Hirschsprung Disease Procedure in Indonesian Population. ( 25437590 )
2014
43
RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease. ( 24897126 )
2014
44
Involvement of DNMT3B in the pathogenesis of Hirschsprung disease and its possible role as a regulator of neurogenesis in the human enteric nervous system. ( 24577265 )
2014
45
Genetic mosaicism of a frameshift mutation in the RET gene in a family with Hirschsprung disease. ( 24613280 )
2014
46
Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease. ( 25475805 )
2014
47
Evaluation of calretinin immunohistochemistry as an additional tool in confirming the diagnosis of Hirschsprung disease. ( 25119007 )
2014
48
A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease. ( 25310821 )
2014
49
Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation. ( 23663121 )
2014
50
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. ( 24715367 )
2014

Variations for Hirschsprung Disease 1

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

75 (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
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
36 RET p.Glu762Gln VAR_009481
37 RET p.Tyr791Phe VAR_009483 rs77724903
38 RET p.Arg813Gln VAR_009484
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 113)
# Gene Variation Type Significance SNP ID Assembly Location
1 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 GRCh37 Chromosome 1, 97915614: 97915614
2 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 GRCh38 Chromosome 1, 97450058: 97450058
3 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 NCBI36 Chromosome 1, 97688202: 97688202
4 RET NM_020975.4(RET): c.406G> T (p.Glu136Ter) single nucleotide variant risk factor rs79014735 GRCh38 Chromosome 10, 43102410: 43102410
5 RET NM_020975.4(RET): c.406G> T (p.Glu136Ter) single nucleotide variant risk factor rs79014735 GRCh37 Chromosome 10, 43597858: 43597858
6 RET NM_020975.4(RET): c.2293T> C (p.Ser765Pro) single nucleotide variant risk factor rs75075748 GRCh37 Chromosome 10, 43613829: 43613829
7 RET NM_020975.4(RET): c.2293T> C (p.Ser765Pro) single nucleotide variant risk factor rs75075748 GRCh38 Chromosome 10, 43118381: 43118381
8 RET RET, 1-BP DEL, G1120 deletion risk factor
9 RET NM_020975.4(RET): c.2690G> A (p.Arg897Gln) single nucleotide variant risk factor rs76087194 GRCh37 Chromosome 10, 43615611: 43615611
10 RET NM_020975.4(RET): c.2690G> A (p.Arg897Gln) single nucleotide variant risk factor rs76087194 GRCh38 Chromosome 10, 43120163: 43120163
11 RET NM_020975.4(RET): c.2914A> G (p.Arg972Gly) single nucleotide variant risk factor rs76534745 GRCh37 Chromosome 10, 43619231: 43619231
12 RET NM_020975.4(RET): c.2914A> G (p.Arg972Gly) single nucleotide variant risk factor rs76534745 GRCh38 Chromosome 10, 43123783: 43123783
13 RET NM_020975.4(RET): c.95C> T (p.Ser32Leu) single nucleotide variant risk factor rs76764689 GRCh37 Chromosome 10, 43595928: 43595928
14 RET NM_020975.4(RET): c.95C> T (p.Ser32Leu) single nucleotide variant risk factor rs76764689 GRCh38 Chromosome 10, 43100480: 43100480
15 RET NM_020975.4(RET): c.191C> T (p.Pro64Leu) single nucleotide variant risk factor rs77596424 GRCh37 Chromosome 10, 43596024: 43596024
16 RET NM_020975.4(RET): c.191C> T (p.Pro64Leu) single nucleotide variant risk factor rs77596424 GRCh38 Chromosome 10, 43100576: 43100576
17 RET NM_020975.4(RET): c.538C> T (p.Arg180Ter) single nucleotide variant risk factor rs76449634 GRCh37 Chromosome 10, 43597990: 43597990
18 RET NM_020975.4(RET): c.538C> T (p.Arg180Ter) single nucleotide variant risk factor rs76449634 GRCh38 Chromosome 10, 43102542: 43102542
19 RET NM_020975.4(RET): c.989G> A (p.Arg330Gln) single nucleotide variant risk factor rs80236571 GRCh37 Chromosome 10, 43601945: 43601945
20 RET NM_020975.4(RET): c.989G> A (p.Arg330Gln) single nucleotide variant risk factor rs80236571 GRCh38 Chromosome 10, 43106497: 43106497
21 RET NM_020975.4(RET): c.1179C> A (p.Phe393Leu) single nucleotide variant risk factor rs78098482 GRCh37 Chromosome 10, 43604594: 43604594
22 RET NM_020975.4(RET): c.1179C> A (p.Phe393Leu) single nucleotide variant risk factor rs78098482 GRCh38 Chromosome 10, 43109146: 43109146
23 RET NM_020975.4(RET): c.692G> A (p.Arg231His) single nucleotide variant risk factor rs79661516 GRCh37 Chromosome 10, 43600466: 43600466
24 RET NM_020975.4(RET): c.692G> A (p.Arg231His) single nucleotide variant risk factor rs79661516 GRCh38 Chromosome 10, 43105018: 43105018
25 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh37 Chromosome 10, 43620335: 43620335
26 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh38 Chromosome 10, 43124887: 43124887
27 RET NM_020975.4(RET): c.1941C> T (p.Ile647=) single nucleotide variant risk factor rs75225191 GRCh37 Chromosome 10, 43609989: 43609989
28 RET NM_020975.4(RET): c.1941C> T (p.Ile647=) single nucleotide variant risk factor rs75225191 GRCh38 Chromosome 10, 43114541: 43114541
29 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
30 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic rs79658334 GRCh38 Chromosome 10, 43119548: 43119548
31 RET NM_020975.5(RET): c.73+9277T> C single nucleotide variant risk factor rs2435357 GRCh37 Chromosome 10, 43582056: 43582056
32 RET NM_020975.5(RET): c.73+9277T> C single nucleotide variant risk factor rs2435357 GRCh38 Chromosome 10, 43086608: 43086608
33 RET NM_020630.4(RET): c.1880-2A> G single nucleotide variant Likely pathogenic rs193922699 GRCh37 Chromosome 10, 43609926: 43609926
34 RET NM_020630.4(RET): c.1880-2A> G single nucleotide variant Likely pathogenic rs193922699 GRCh38 Chromosome 10, 43114478: 43114478
35 SOX10 NM_001301131.1(POLR2F): c.294-27388_*10734del deletion Pathogenic GRCh38 Chromosome 22, 38013680: 38051826
36 SOX10 NM_001301131.1(POLR2F): c.294-27388_*10734del deletion Pathogenic GRCh37 Chromosome 22, 38409687: 38447833
37 SOX10 NM_001301130.1(POLR2F): c.453-24294G> C single nucleotide variant Likely pathogenic rs533778281 GRCh37 Chromosome 22, 38412781: 38412781
38 SOX10 NM_001301130.1(POLR2F): c.453-24294G> C single nucleotide variant Likely pathogenic rs533778281 GRCh38 Chromosome 22, 38016774: 38016774
39 SOX10 NM_001301130.1(POLR2F): c.453-24860G> A single nucleotide variant Likely pathogenic rs606231342 GRCh38 Chromosome 22, 38016208: 38016208
40 SOX10 NM_001301130.1(POLR2F): c.453-24860G> A single nucleotide variant Likely pathogenic rs606231342 GRCh37 Chromosome 22, 38412215: 38412215
41 RET NM_020630.4(RET): c.539G> A (p.Arg180Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs370736139 GRCh37 Chromosome 10, 43597991: 43597991
42 RET NM_020630.4(RET): c.539G> A (p.Arg180Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs370736139 GRCh38 Chromosome 10, 43102543: 43102543
43 RET NM_020630.4(RET): c.2081G> A (p.Arg694Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141185224 GRCh37 Chromosome 10, 43610129: 43610129
44 RET NM_020630.4(RET): c.2081G> A (p.Arg694Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141185224 GRCh38 Chromosome 10, 43114681: 43114681
45 RET NM_020975.5(RET): c.3191T> C (p.Met1064Thr) single nucleotide variant Uncertain significance rs149513065 GRCh37 Chromosome 10, 43623563: 43623563
46 RET NM_020975.5(RET): c.3191T> C (p.Met1064Thr) single nucleotide variant Uncertain significance rs149513065 GRCh38 Chromosome 10, 43128115: 43128115
47 SEMA3D NM_152754.2(SEMA3D): c.592G> A (p.Glu198Lys) single nucleotide variant Uncertain significance rs549337695 GRCh38 Chromosome 7, 85065550: 85065550
48 ZHX2 NM_014943.3(ZHX2): c.1682G> A (p.Arg561Gln) single nucleotide variant Uncertain significance rs138450443 GRCh37 Chromosome 8, 123965432: 123965432
49 ZHX2 NM_014943.3(ZHX2): c.1682G> A (p.Arg561Gln) single nucleotide variant Uncertain significance rs138450443 GRCh38 Chromosome 8, 122953192: 122953192
50 SEMA3D NM_152754.2(SEMA3D): c.592G> A (p.Glu198Lys) single nucleotide variant Uncertain significance rs549337695 GRCh37 Chromosome 7, 84694866: 84694866

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:

37
# 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
11.01 GDNF GFRA1 NRTN RET
2 11 GDNF GFRA1 RET
3 10.91 GDNF GFRA1 RET
4 10.7 GDNF GFRA1 NRTN

GO Terms for Hirschsprung Disease 1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.83 EDNRB GDNF GFRA1 NRTN RET
2 MAPK cascade GO:0000165 9.71 GDNF GFRA1 NRTN RET
3 axon guidance GO:0007411 9.67 GDNF GFRA1 NRTN RET
4 peripheral nervous system development GO:0007422 9.52 EDNRB GDNF
5 regulation of vasoconstriction GO:0019229 9.51 ECE1 EDN3
6 response to pain GO:0048265 9.49 EDNRB RET
7 melanocyte differentiation GO:0030318 9.48 EDN3 EDNRB
8 vasoconstriction GO:0042310 9.46 EDN3 EDNRB
9 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.32 ECE1 EDN3
10 vein smooth muscle contraction GO:0014826 9.26 EDN3 EDNRB
11 posterior midgut development GO:0007497 9.16 EDNRB RET
12 enteric nervous system development GO:0048484 9.13 EDNRB GDNF RET
13 neural crest cell migration GO:0001755 9.02 EDN3 EDNRB GDNF NRTN RET

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

# Name GO ID Score Top Affiliating Genes
1 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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