MCID: HRS035
MIFTS: 64

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 53 49 71 28 69
Hirschsprung Disease 53 12 72 23 24 55 36 28 51 41 69
Aganglionic Megacolon 53 12 23 49 24 55 71 28
Hscr 53 23 49 24 55
Hirschsprung's Disease 12 49 24 14
Congenital Intestinal Aganglionosis 24 55 69
Congenital Megacolon 12 72 24
Hirschsprung Disease, Susceptibility to, 1 53 13
Total Intestinal Aganglionosis 12 51
Colonic Aganglionosis 71 51
Hscr1 53 71
Mgc 53 71
Congenital Dilatation of Colon 69
Megacolon, Aganglionic; Mgc 53
Hirschsprung Disease Type 1 49
Hirschsprung Disease; Hscr 53
Megacolon, Aganglionic 53
Pelvirectal Achalasia 12
Macrocolon 12
Hscr 1 49

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal dominant

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


HPO:

31
hirschsprung disease 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hirschsprung Disease 1

NIH Rare Diseases : 49 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.   Last updated: 9/4/2017

MalaCards based summary : Hirschsprung Disease 1, also known as hirschsprung disease, is related to central hypoventilation syndrome, congenital and multiple endocrine neoplasia, type iia, and has symptoms including constipation, abdominal pain and diarrhea. 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, heart and thyroid, and related phenotypes are behavior/neurological and digestive/alimentary

OMIM : 53 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 : 71 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 : 24 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 : 72 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 33)
# Related Disease Score Top Affiliating Genes
1 central hypoventilation syndrome, congenital 32.5 EDN3 EDNRB GDNF PHOX2B RET
2 multiple endocrine neoplasia, type iia 31.0 GDNF GFRA1 RET
3 megacolon 30.8 ACHE EDN3 EDNRB GDNF NRTN PHOX2B
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 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 11.0
12 waardenburg syndrome type 4 10.7 EDN3 EDNRB SOX10
13 waardenburg syndrome, type 4a 10.7 EDN3 EDNRB RET SOX10
14 cochlear disease 10.6 EDN3 EDNRB SOX10
15 waardenburg syndrome, type 2e 10.6 EDNRB SOX10
16 goldberg-shprintzen syndrome 10.6 EDN3 EDNRB GDNF RET
17 multiple endocrine neoplasia, type iib 10.6 EDNRB GDNF GFRA1 RET
18 medullary sponge kidney 10.6 GDNF RET
19 hypoganglionosis 10.6 ACHE GDNF RET SYP
20 constipation 10.6 EDNRB GDNF RET
21 intestinal pseudo-obstruction 10.6 EDNRB RET SOX10 SYP
22 waardenburg's syndrome 10.6 EDN3 EDNRB RET SOX10
23 waardenburg syndrome, type 1 10.6 EDN3 SOX10
24 thyroid carcinoma, familial medullary 10.6 EDNRB GDNF GFRA1 RET
25 intestinal obstruction 10.5 ACHE EDN3 EDNRB GDNF NRTN RET
26 tietz albinism-deafness syndrome 10.5 EDN3 SOX10
27 mowat-wilson syndrome 10.4 EDNRB ZEB2
28 parkinson disease, late-onset 10.4 ACHE GDNF GFRA1 NRTN
29 colonic disease 10.3 ACHE EDN3 EDNRB GDNF GFRA1 NRTN
30 childhood oligodendroglioma 10.2 DPYD SYP
31 multiple endocrine neoplasia 10.1
32 duodenal obstruction 9.9
33 duodenitis 9.9

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:

53
Abdomen Gastroin testinal:
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:

55 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002019
2 abdominal pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002027
3 diarrhea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002014
4 nausea and vomiting 55 31 hallmark (90%) Very frequent (99-80%) HP:0002017
5 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
6 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
7 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
8 weight loss 55 31 frequent (33%) Frequent (79-30%) HP:0001824
9 failure to thrive in infancy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001531
10 intestinal obstruction 55 31 hallmark (90%) Very frequent (99-80%) HP:0005214
11 aganglionic megacolon 55 31 hallmark (90%) Very frequent (99-80%) HP:0002251
12 sepsis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100806
13 adducted thumb 55 31 occasional (7.5%) Occasional (29-5%) HP:0001181
14 intestinal polyposis 55 31 occasional (7.5%) Occasional (29-5%) HP:0200008
15 neoplasm of the thyroid gland 55 31 occasional (7.5%) Occasional (29-5%) HP:0100031
16 vomiting 31 HP:0002013
17 abdominal distention 31 HP:0003270
18 functional abnormality of the gastrointestinal tract 55 Very frequent (99-80%)
19 enterocolitis 31 HP:0004387
20 abnormality of enteric ganglion morphology 31 HP:0004362

MGI Mouse Phenotypes related to Hirschsprung Disease 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ACHE EDN3 EDNRB GDNF GFRA1 NRTN
2 digestive/alimentary MP:0005381 9.92 EDN3 EDNRB GDNF GFRA1 NRTN RET
3 embryo MP:0005380 9.91 ECE1 EDN3 EDNRB GFRA1 PHOX2B RET
4 nervous system MP:0003631 9.77 ACHE ECE1 EDN3 EDNRB GDNF GFRA1
5 muscle MP:0005369 9.7 ACHE ECE1 EDNRB GDNF GFRA1 NRTN
6 pigmentation MP:0001186 9.02 ECE1 EDN3 EDNRB SEMA3C SOX10

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 4618-18-2 11333
3 Gastrointestinal Agents
4 Micronutrients
5 Pharmaceutical Solutions
6 Trace Elements
7 Vitamins
8 Anesthetics
9 Cola Nutraceutical Early Phase 1
10 lysine Nutraceutical

Interventional clinical trials:

(show all 21)

# 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
6 A New Scoring System Improves Diagnostic Accuracy of Intestinal Dysganglionosis --a Prospective Study Unknown status NCT02216994 high dose lactulose;paraffin oil
7 Fast-track Surgery in the Treatment of Hirschsprung's Disease Unknown status NCT02350088 probiotics;placebo
8 Comparison of Circular(Soave) and Heart-shaped Anastomosis in Hirschsprung's Disease: A Prospective Multicenter Randomized Controlled Trial Unknown status NCT02234219 Probiotics
9 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders Unknown status NCT02296008
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
13 Hirschsprung Disease Genetic Study Recruiting NCT00478712
14 Enhanced Recovery After Surgery In Hirschsprung Disease Recruiting NCT02776176
15 Neuropsychological Development and Functional Outcome Sin Children With Hirschsprung Disease at School Age Recruiting NCT03406741
16 Identification Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung Disease Recruiting NCT02193685
17 Genetic Mosaicism in Hirschsprung's Disease Recruiting NCT01927809
18 MICROPRUNG : Intestinal Microbiota Analysis in Patients With or Without Hirschsprung's Associated EnteroColitis Recruiting NCT02857205
19 Endoscopic Mucosal Resection for the Diagnosis of a-Ganglionosis, a Controlled Prospective Trial (EDGE Trial) Recruiting NCT01515501
20 International Congenital Central Hypoventilation Syndrome (CCHS) Registry Recruiting NCT03088020
21 Laparoscopic Assisted Pull-through Versus Other Surgical Procedures for Treatment of Hirschsprung Disease Not yet recruiting NCT03269812

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 28 NRTN
2 Hirschsprung Disease 1 28 RET
3 Aganglionic Megacolon 28

Anatomical Context for Hirschsprung Disease 1

MalaCards organs/tissues related to Hirschsprung Disease 1:

38
Colon, Heart, Thyroid

Publications for Hirschsprung Disease 1

Articles related to Hirschsprung Disease 1:

(show top 50) (show all 287)
# Title Authors Year
1
A Newly Recognized Association of Hirschsprung Disease With Cri-du-chat Syndrome. ( 28050027 )
2017
2
Colonic Adventitial Fibromuscular Dysplasia: A Nonspecific Arteriopathy Associated With Hirschsprung Disease and Other Obstructive Disorders. ( 29108502 )
2017
3
Potential association between ITPKC genetic variations and Hirschsprung disease. ( 28664405 )
2017
4
Cumulative Risk Impact of RET, SEMA3, and NRG1 Polymorphisms Associated With Hirschsprung Disease in Han Chinese. ( 27203398 )
2017
5
The anal canal is the fine line between "fecal incontinence and colitis" after a pull-through for Hirschsprung disease. ( 28941931 )
2017
6
Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease. ( 26879676 )
2016
7
Fatal Toxic Megacolon in a Child of Hirschsprung Disease. ( 28208866 )
2016
8
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
9
Damaged anal canal as a cause of fecal incontinence after surgical repair for Hirschsprung disease - a preventable and under-reported complication. ( 27624566 )
2016
10
RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling. ( 26395553 )
2016
11
Utility of Peripherin Versus MAP-2 and Calretinin in the Evaluation of Hirschsprung Disease. ( 26469323 )
2016
12
Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation. ( 27511161 )
2016
13
Solitary Rectal Ulcer Syndrome as a Sign of Unrecognized Hirschsprung Disease. ( 27402331 )
2016
14
Contribution of Common Variants in GABRG2, RELN and NRG3 and Interaction Networks to the Risk of Hirschsprung Disease. ( 27889765 )
2016
15
Suppressive action of miRNAs to ARP2/3 complex reduces cell migration and proliferation via RAC isoforms in Hirschsprung disease. ( 26991540 )
2016
16
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
17
Two Cases of Chronic Intestinal Pseudo-obstruction: A Comparison of Staining Characteristics of Enteric Visceral Myopathy With Hirschsprung Disease. ( 26808129 )
2016
18
Negative feedback circuitry between MIR143HG and RBM24 in Hirschsprung disease. ( 27565737 )
2016
19
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. ( 27702942 )
2016
20
Effects of SEMA3 polymorphisms in Hirschsprung disease patients. ( 27469503 )
2016
21
Association Analysis of SLC6A20 Polymorphisms With Hirschsprung Disease. ( 26049783 )
2016
22
Deregulation of the planar cell polarity genes CELSR3 and FZD3 in Hirschsprung disease. ( 27619161 )
2016
23
Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability. ( 25839327 )
2015
24
TGF-I^1, Ghrelin, Neurexin, and Neuroligin are predictive biomarkers for postoperative prognosis of laparoscopic surgery in children with Hirschsprung disease. ( 25399301 )
2015
25
Hirschsprung disease and hepatoblastoma: case report of a rare association. ( 26465815 )
2015
26
Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Disease in a Chinese Population. ( 25424204 )
2015
27
The Surgical Treatment of Toxic Megacolon in Hirschsprung Disease. ( 26181500 )
2015
28
Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patients. ( 26191260 )
2015
29
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
30
Identification of GLI Mutations in Patients With Hirschsprung Disease That Disrupt Enteric Nervous System Development in Mice. ( 26261006 )
2015
31
Long none coding RNA HOTTIP/HOXA13 act as synergistic role by decreasing cell migration and proliferation in Hirschsprung disease. ( 26043692 )
2015
32
Genetic variants of IL-11 associated with risk of Hirschsprung disease. ( 26172388 )
2015
33
Down-regulation of miR-206 is associated with Hirschsprung disease and suppresses cell migration and proliferation in cell models. ( 25792468 )
2015
34
Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms. ( 25666438 )
2015
35
HIRSCHSPRUNG DISEASE ASSOCIATED WITH MOWAT-WILSON SYNDROME: REPORT OF A CASE. ( 25795985 )
2015
36
Association of joubert syndrome and hirschsprung disease. ( 25638189 )
2015
37
Evaluation of calretinin immunohistochemistry as an additional tool in confirming the diagnosis of Hirschsprung disease. ( 25119007 )
2014
38
Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation. ( 23663121 )
2014
39
A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. ( 23528852 )
2014
40
An impairment of long distance SOX10 regulatory elements underlies isolated Hirschsprung disease. ( 24357527 )
2014
41
Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease. ( 25475805 )
2014
42
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
43
Expression analysis of BMP2, BMP5, BMP10 in human colon tissues from Hirschsprung disease patients. ( 24551273 )
2014
44
WNT3A gene expression is associated with isolated Hirschsprung disease polymorphism and disease status. ( 24817932 )
2014
45
Effect of RET c.2307T>G Polymorphism on the Outcomes of Posterior Sagittal Neurectomy for Hirschsprung Disease Procedure in Indonesian Population. ( 25437590 )
2014
46
A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease. ( 25310821 )
2014
47
RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease. ( 24897126 )
2014
48
A common polymorphism in pre-miR-146a underlies Hirschsprung disease risk in Han Chinese. ( 25445498 )
2014
49
Genetic mosaicism of a frameshift mutation in the RET gene in a family with Hirschsprung disease. ( 24613280 )
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:

71 (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 all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020975.4(RET): c.2293T> C (p.Ser765Pro) single nucleotide variant risk factor rs75075748 GRCh37 Chromosome 10, 43613829: 43613829
2 RET NM_020975.4(RET): c.406G> T (p.Glu136Ter) single nucleotide variant risk factor rs79014735 GRCh37 Chromosome 10, 43597858: 43597858
3 RET RET, 1-BP DEL, G1120 deletion risk factor
4 RET NM_020975.4(RET): c.2690G> A (p.Arg897Gln) single nucleotide variant risk factor rs76087194 GRCh37 Chromosome 10, 43615611: 43615611
5 RET NM_020975.4(RET): c.2914A> G (p.Arg972Gly) single nucleotide variant risk factor rs76534745 GRCh37 Chromosome 10, 43619231: 43619231
6 RET NM_020975.4(RET): c.95C> T (p.Ser32Leu) single nucleotide variant risk factor rs76764689 GRCh37 Chromosome 10, 43595928: 43595928
7 RET NM_020975.4(RET): c.191C> T (p.Pro64Leu) single nucleotide variant risk factor rs77596424 GRCh37 Chromosome 10, 43596024: 43596024
8 RET NM_020975.4(RET): c.538C> T (p.Arg180Ter) single nucleotide variant risk factor rs76449634 GRCh37 Chromosome 10, 43597990: 43597990
9 RET NM_020975.4(RET): c.989G> A (p.Arg330Gln) single nucleotide variant risk factor rs80236571 GRCh37 Chromosome 10, 43601945: 43601945
10 RET NM_020975.4(RET): c.1179C> A (p.Phe393Leu) single nucleotide variant risk factor rs78098482 GRCh37 Chromosome 10, 43604594: 43604594
11 RET NM_020975.4(RET): c.938G> A (p.Arg313Gln) single nucleotide variant risk factor rs77702891 GRCh37 Chromosome 10, 43601894: 43601894
12 RET NM_020975.4(RET): c.692G> A (p.Arg231His) single nucleotide variant risk factor rs79661516 GRCh37 Chromosome 10, 43600466: 43600466
13 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh37 Chromosome 10, 43620335: 43620335
14 RET NM_020975.4(RET): c.1941C> T (p.Ile647=) single nucleotide variant risk factor rs75225191 GRCh37 Chromosome 10, 43609989: 43609989
15 RET NM_020630.4(RET): c.135G> A (p.Ala45=) single nucleotide variant risk factor rs1800858 GRCh37 Chromosome 10, 43595968: 43595968
16 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
17 RET NM_020630.4(RET): c.73+9277T> C single nucleotide variant risk factor rs2435357 GRCh37 Chromosome 10, 43582056: 43582056
18 RET NM_020630.4(RET): c.1880-2A> G single nucleotide variant Likely pathogenic rs193922699 GRCh37 Chromosome 10, 43609926: 43609926
19 SOX10 NM_001301131.1(POLR2F): c.294-27388_*10734del deletion Pathogenic GRCh38 Chromosome 22, 38013680: 38051826
20 SOX10 NM_001301130.1(POLR2F): c.453-24294G> C single nucleotide variant Likely pathogenic rs533778281 GRCh37 Chromosome 22, 38412781: 38412781
21 SOX10 NM_001301130.1(POLR2F): c.453-24860G> A single nucleotide variant Likely pathogenic rs606231342 GRCh38 Chromosome 22, 38016208: 38016208
22 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 GRCh37 Chromosome 1, 97915614: 97915614
23 IHH NM_002181.3(IHH): c.151C> A (p.Gln51Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 219060317: 219060317
24 RET NM_020975.4(RET): c.1196C> T (p.Pro399Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 43604611: 43604611
25 TBATA NM_152710.3(TBATA): c.157C> T (p.Arg53Cys) single nucleotide variant Likely pathogenic rs759944122 GRCh37 Chromosome 10, 72541677: 72541677
26 NCLN NM_001321463.1(NCLN): c.496C> T (p.Gln166Ter) single nucleotide variant Likely pathogenic rs1057519322 GRCh37 Chromosome 19, 3193402: 3193402
27 NUP98 NM_139132.3(NUP98): c.4985A> G (p.Asn1662Ser) single nucleotide variant Likely pathogenic rs1057519323 GRCh37 Chromosome 11, 3697585: 3697585
28 DENND3 NM_014957.2(DENND3): c.1920delG (p.Lys640Asnfs) deletion Likely pathogenic rs1057519052 GRCh37 Chromosome 8, 142178509: 142178509

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:

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Neuroactive ligand-receptor interaction hsa04080

GO Terms for Hirschsprung Disease 1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.81 ACHE EDNRB GDNF GFRA1 NRTN RET
2 MAPK cascade GO:0000165 9.78 GDNF GFRA1 NRTN RET
3 axon guidance GO:0007411 9.65 GDNF GFRA1 NRTN RET SEMA3C
4 regulation of vasoconstriction GO:0019229 9.55 ECE1 EDN3
5 response to pain GO:0048265 9.54 EDNRB RET
6 melanocyte differentiation GO:0030318 9.52 EDNRB SOX10
7 vasoconstriction GO:0042310 9.51 EDN3 EDNRB
8 peripheral nervous system development GO:0007422 9.5 EDNRB GDNF SOX10
9 sympathetic nervous system development GO:0048485 9.49 GDNF PHOX2B
10 developmental pigmentation GO:0048066 9.46 EDNRB ZEB2
11 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.43 ECE1 EDN3
12 vein smooth muscle contraction GO:0014826 9.4 EDN3 EDNRB
13 posterior midgut development GO:0007497 9.37 EDNRB RET
14 enteric nervous system development GO:0048484 9.35 EDNRB GDNF PHOX2B RET SOX10
15 neural crest cell migration GO:0001755 9.17 EDNRB GDNF NRTN RET SEMA3C SOX10

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

# Name GO ID Score Top Affiliating Genes
1 neuropilin binding GO:0038191 8.96 SEMA3C SEMA3D
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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