HSCR1
MCID: HRS035
MIFTS: 69

Hirschsprung Disease 1 (HSCR1)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Hirschsprung Disease 1

MalaCards integrated aliases for Hirschsprung Disease 1:

Name: Hirschsprung Disease 1 57 19 73 71
Hirschsprung Disease 57 11 19 42 58 75 53 43 38 71 31 33
Aganglionic Megacolon 57 11 19 42 58 73 28 5 33
Hirschsprung's Disease 11 42 14 75
Colonic Aganglionosis 58 73 53 33
Congenital Megacolon 11 42 75 33
Hscr 57 19 42 58
Hirschsprung Disease, Susceptibility to, 1 57 28 5
Hirschsprung Disease, Protection Against 57 28 5
Congenital Intestinal Aganglionosis 42 58 71
Total Intestinal Aganglionosis 11 53
Pelvirectal Achalasia 11 33
Hscr1 57 73
Mgc 57 73
Congenital Aganglionic Megacolon 33
Congenital Dilatation of Colon 71
Hirschsprung Disease, Type 1 38
Hirschsprung Disease Type 1 19
Megacolon, Aganglionic 57
Aganglionosis of Colon 33
Hirschsprung Megacolon 33
Bowel Aganglionosis 33
Colon Aganglionosis 33
Aganglionosis 33
Macrocolon 11
Hscr 1 19

Characteristics:


Inheritance:

Hirschsprung Disease 1: Autosomal dominant 57
Hirschsprung Disease: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial 58

Prevelance:

Hirschsprung Disease: 1-5/10000 58

Age Of Onset:

Hirschsprung Disease: Childhood,Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
male predominance of 3:1 to 5:1
familial (10%) and isolated cases


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 11 DOID:10487
OMIM® 57 142623
OMIM Phenotypic Series 57 PS142623
MeSH 43 D006627
NCIt 49 C34700
SNOMED-CT 68 204739008
ICD10 31 Q43.1
MESH via Orphanet 44 D006627
ICD10 via Orphanet 32 Q43.1
UMLS via Orphanet 72 C0019569 C3661523
Orphanet 58 ORPHA388
ICD11 33 1772690306
UMLS 71 C0019569 C0266209 C2931876 more

Summaries for Hirschsprung Disease 1

MedlinePlus Genetics: 42 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.Enteric nerves trigger the muscle contractions that move stool through the intestine. Without these nerves in parts of the intestine, the material cannot be pushed through, causing severe constipation or complete blockage of the intestine in people with Hirschsprung disease. Other signs and symptoms of this condition include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth. People with this disorder are at risk of developing more serious conditions such as inflammation of the intestine (enterocolitis) or a hole in the wall of the intestine (intestinal perforation), which can cause serious infection and may be fatal.There are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, which are defined by the region of the intestine lacking nerve cells. In short-segment disease, nerve cells are missing from only the last segment of the large intestine (colon). This type is most common, occurring in approximately 80 percent of people with Hirschsprung disease. For unknown reasons, short-segment disease is four times more common in men than in women. Long-segment disease occurs when nerve cells are missing from most of the large intestine and is the more severe type. Long-segment disease is found in approximately 20 percent of people with Hirschsprung disease and affects men and women equally. Very rarely, nerve cells are missing from the entire large intestine and sometimes part of the small intestine (total colonic aganglionosis) or from all of the large and small intestine (total intestinal aganglionosis).Hirschsprung disease can occur in combination with other conditions, such as Waardenburg syndrome, type IV; Mowat-Wilson syndrome; or congenital central hypoventilation syndrome. These cases are described as syndromic. Hirschsprung disease can also occur without other conditions, and these cases are referred to as isolated or nonsyndromic.

MalaCards based summary: Hirschsprung Disease 1, also known as hirschsprung disease, is related to mowat-wilson syndrome 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 Signal Transduction and RET signaling. The drugs Acidophilus and Cola have been mentioned in the context of this disorder. Affiliated tissues include colon, small intestine and thyroid, and related phenotypes are nausea and vomiting and constipation

GARD: 19 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 genetic changes in several genes.

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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

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

Wikipedia: 75 Hirschsprung's disease (HD or HSCR) is a birth defect in which nerves are missing from parts of the... more...

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 652)
# Related Disease Score Top Affiliating Genes
1 mowat-wilson syndrome 33.7 SOX10 RET GFRA1 EDNRB EDN3 ECE1
2 waardenburg syndrome, type 4a 33.5 SOX10 RET EDNRB EDN3
3 congenital central hypoventilation syndrome 33.5 SOX10 RET NRTN GFRA1 EDNRB EDN3
4 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 33.4 SOX10 EDNRB EDN3
5 waardenburg syndrome, type 4c 33.3 SOX10 EDNRB EDN3
6 hirschsprung disease 4 33.2 HSCR5 EDN3
7 central hypoventilation syndrome, congenital, 1 33.1 RET EDNRB EDN3
8 waardenburg's syndrome 32.8 SOX10 RET EDNRB EDN3 ECE1
9 goldberg-shprintzen syndrome 32.8 RET EDNRB EDN3
10 waardenburg syndrome, type 2b 32.4 SOX10 EDNRB EDN3
11 waardenburg syndrome, type 3 32.4 SOX10 EDNRB EDN3
12 waardenburg syndrome, type 2a 32.4 SOX10 EDNRB EDN3
13 megacolon 32.2 SOX10 RET NRTN HSCR5 GFRA1 EDNRB
14 intestinal obstruction 31.9 RET NRTN EDNRB EDN3
15 hypoganglionosis 31.6 ERBB3 ERBB2
16 thyroid carcinoma, familial medullary 31.5 RET NRTN GFRA1
17 intestinal pseudo-obstruction 31.5 SOX10 RET EDNRB EDN3
18 sensorineural hearing loss 31.3 SOX10 RET ERBB2 EDNRB EDN3
19 multiple endocrine neoplasia, type iib 31.3 RET NRTN GFRA1
20 waardenburg syndrome, type 1 31.0 SOX10 EDNRB EDN3
21 piebald trait 30.8 SOX10 EDNRB EDN3
22 thyroid gland cancer 30.6 RET NRTN GFRA1 ERBB2
23 waardenburg syndrome, type 2e 30.6 SOX10 EDNRB EDN3
24 hirschsprung disease 3 11.7
25 hirschsprung disease 2 11.7
26 santos mateus leal syndrome 11.6
27 hirschsprung disease with type d brachydactyly 11.6
28 waardenburg syndrome, type 4b 11.6
29 hirschsprung disease 5 11.6
30 hirschsprung disease 7 11.6
31 hirschsprung disease 9 11.6
32 hirschsprung disease 6 11.6
33 hirschsprung disease 8 11.6
34 hirschsprung disease, cardiac defects, and autonomic dysfunction 11.5
35 neuroblastoma 2 11.5
36 hirschsprung nail hypoplasia dysmorphism 11.5
37 ifap syndrome 1, with or without bresheck syndrome 11.5
38 al-gazali-donnai-mueller syndrome 11.4
39 palmoplantar keratoderma, punctate type iii 11.3
40 corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation 11.2
41 dermotrichic syndrome 11.2
42 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect 11.2
43 hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly 11.2
44 multiple endocrine neoplasia, type iia 11.1
45 mckusick-kaufman syndrome 11.1
46 visceral neuropathy, familial, 1, autosomal recessive 11.1
47 hirschsprung disease with polydactyly, renal agenesis, and deafness 11.1
48 hirschsprung disease with hypoplastic nails and dysmorphic facial features 11.0
49 rare disorder with hirschsprung disease as a major feature 11.0
50 cartilage-hair hypoplasia 11.0

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:

58 30 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002017
2 constipation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002019
3 abdominal pain 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002027
4 aganglionic megacolon 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002251
5 intestinal obstruction 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005214
6 weight loss 58 30 Frequent (33%) Frequent (79-30%)
HP:0001824
7 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
8 sensorineural hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000407
9 short stature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004322
10 failure to thrive in infancy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001531
11 adducted thumb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001181
12 sepsis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100806
13 neoplasm of the thyroid gland 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100031
14 intestinal polyposis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200008
15 diarrhea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002014
16 vomiting 30 HP:0002013
17 functional abnormality of the gastrointestinal tract 58 Very frequent (99-80%)
18 abdominal distention 30 HP:0003270
19 enterocolitis 30 HP:0004387
20 abnormality of enteric ganglion morphology 30 HP:0004362

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Hirschsprung Disease 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.21 ABCD1 ATP7A ECE1 EDN3 EDNRB ERBB2
2 normal MP:0002873 10.16 ABCD1 ATP7A ECE1 ERBB2 ERBB3 GFRA1
3 muscle MP:0005369 10.14 ATP7A ECE1 EDNRB ERBB2 ERBB3 GFRA1
4 embryo MP:0005380 10.06 ATP7A ECE1 EDN3 EDNRB ERBB2 ERBB3
5 digestive/alimentary MP:0005381 10 ATP7A ECE1 EDN3 EDNRB ERBB2 ERBB3
6 pigmentation MP:0001186 9.95 ATP7A ECE1 EDN3 EDNRB ERBB3 SOX10
7 limbs/digits/tail MP:0005371 9.91 ATP7A EDNRB ERBB2 HOTTIP RET SMO
8 mortality/aging MP:0010768 9.77 ABCD1 ATP7A ECE1 EDN3 EDNRB ERBB2
9 respiratory system MP:0005388 9.76 ATP7A EDNRB ERBB2 ERBB3 MEG3 RET
10 integument MP:0010771 9.28 ATP7A ECE1 EDN3 EDNRB ERBB2 ERBB3

Drugs & Therapeutics for Hirschsprung Disease 1

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

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Acidophilus Phase 4
2 Cola Phase 3
3
Lactulose Approved 4618-18-2 11333
4
Mineral oil Approved, Vet_approved 8042-47-5
5
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
6
Acetaminophen Approved 103-90-2 1983
7
Metronidazole Approved 443-48-1, 69198-10-3 4173
8
Magnesium oxide Approved 1309-48-4 14792
9
Framycetin Approved, Experimental, Vet_approved 1404-04-2, 119-04-0, 3947-65-7 413349 8378
10
Sodium citrate Approved, Investigational 68-04-2 23431961
11
Cefazolin Approved 25953-19-9 33255
12
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
13
Sennosides Experimental 517-43-1
14 Emollients
15 Dermatologic Agents
16 Anesthetics, Local
17 Pharmaceutical Solutions
18 Gastrointestinal Agents
19 Anesthetics
20 Cathartics
21 Antibiotics, Antitubercular
22 Anti-Ulcer Agents
23 Anti-Bacterial Agents
24 Anti-Infective Agents
25 Laxatives
26 Antiprotozoal Agents
27 Picosulfate sodium
28 Antacids
29 Antiparasitic Agents
30 Calcium, Dietary
31 Anticoagulants
32 Senna Extract
33 Senna
34 Citrate
35 Chelating Agents
36
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 48)
# Name Status NCT ID Phase Drugs
1 Probiotics for Prophylaxis of Postoperative Hirschsprungs Associated Enterocolitis Unknown status NCT02343562 Phase 4
2 Immunodeficiency in Cartilage-hair Hypoplasia: Correlation With Pulmonary Disease, Infections and Malignancy Unknown status NCT02383797 Phase 4
3 The Use of Indocyanine Green Angiography in Pediatric Colorectal Surgery: A Feasibility Randomized Controlled Trial Recruiting NCT04904081 Phase 3 Indocyanine green
4 Effects of Butyrate Enemas on Postoperative Intestinal Mobility Disorders in Hirschsprung's Not yet recruiting NCT03660176 Phase 3 butyrate enemas + routine management
5 Endoscopic Mucosal Resection for the Diagnosis of a-Ganglionosis, a Controlled Prospective Trial Unknown status NCT00671684 Phase 1, Phase 2
6 Probiotic Prophylaxis of Hirschprung's Disease Associated Enterocolitis (HAEC) Completed NCT00630838 Phase 2 VSL#3;Placebo
7 Efficacy and Accuracy of a New Diagnostic Scoring System to Differentiate Hirschsprung Disease From Hirschsprung Disease Allied Disorders in the Patients With Suspected Intestinal Dysganglinosis: a Prospective Study Unknown status NCT02216994 high dose lactulose;paraffin oil
8 A Prospective Multi-center Randomized Controlled Clinical Trials of Enhanced Recovery After Surgery in Hirschsprung Disease. Unknown status NCT02776176
9 Neuropsychological Development and Functional Outcome Sin Children With Hirschsprung Disease at School Age - Hirschsprung Unknown status NCT03406741
10 Laparoscopic Assisted Pull-through Versus Other Surgical Procedures for Treatment of Hirschsprung Disease. Unknown status NCT03269812
11 Genetics of Hirschsprung's Disease - Can Genetic Mosaicism Due to Early Somatic Mutations, Explain Disease Development? Unknown status NCT01927809
12 Ostomy in Continuity or Conventional Ileostomy for Complex Pediatric Intestinal Diseases: a Retrospective Multicentric Analysis Unknown status NCT04213976
13 The Elactrophysiological Response of the Colon, in Normal Bowel, and Large Bowel Lacking Ganglia in Children With Suspected Hirschsprungs Disease. Unknown status NCT02342457
14 Fast-track Surgery in the Treatment of Hirschsprung's Disease Unknown status NCT02350088 probiotics;placebo
15 A Prospective, Randomized Controlled Trial of Conservative Versus Surgery Treatment of Normal and Short-segment Hirschsprung Disease for Infants Completed NCT01985646 Early Phase 1 oral probiotic
16 The Risk Factors for Bowel Perforation in Neonates With Hirschsprung Disease Completed NCT05044741
17 Does Hirschsprung Disease Increase the Risk of Febrile Urinary Tract Infection in Children ? A Case-control Study Completed NCT04837963
18 Inpatient Care Utilization and Epidemiology of Hirschsprung Disease in the United States: Analysis of the National Inpatient Sample Completed NCT05038345
19 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders Completed NCT02296008
20 Translation and Validation of the Hirschsprung and Anorectal Malformation Quality of Life (HAQL) Questionnaire in a Danish Hirschsprung Population Completed NCT04730128
21 The Role of Indocyanine Green Angiography Fluorescence on Intestinal Resections in Pediatric Surgery. Completed NCT04020939 Indocyanine Green
22 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Completed NCT03666767
23 Induced Pluripotent Stem Cells for Disease Research Completed NCT04476225
24 Endoscopic Mucosal Resection for the Diagnosis of a-Ganglionosis, a Controlled Prospective Trial (EDGE Trial) Completed NCT01515501
25 Scintigraphic Defecography for Evaluation of Functional Outcome in an Adult Hirschsprung Population Completed NCT04957667
26 MICROPRUNG : Intestinal Microbiota Analysis in Patients With or Without Hirschsprung's Associated EnteroColitis Completed NCT02857205
27 A Prospective Multicenter Randomized Controlled Trial on Probiotics in Preventing Hirschsprung's Disease Associated Entercolitis Completed NCT01934959 Early Phase 1 Bifico
28 The Enteric Nervous System as Modulator of Mucosal Immune Cells Completed NCT03617640
29 The Association Between Calretinin and the Function of Ganglion Cells in Long Segment and Total Hirschsprung Disease Recruiting NCT04149093
30 Registry for Hirschsprung Disease of the BELAPS (Belgian Association of Pediatric Surgery) Recruiting NCT04622410
31 Genetic Analysis of Hirschsprung Disease Recruiting NCT00478712
32 Could Peri-anal Block be Effective as Caudal Block in Trans-anal Pull-through Surgery for Children With Hirschsprung Disease??. A Randomized Controlled Trial. Recruiting NCT04367818
33 The Long Term Outcomes After Pull-through of Long Segment Hirschsprung Disease Recruiting NCT05461924
34 Identification of Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung Disease Recruiting NCT02193685
35 A Multicentric Study on Pre-operative Nutritional Support for Hirschsprung's Disease Recruiting NCT04598841
36 Neurocognitive Outcome as a Metric for Evaluating Therapeutic Intervention and Treatment Mechanisms in Congenital Central Hypoventilation Syndrome (CCHS): A Multi-Site Study Using The NIH Toolbox Recruiting NCT03568669
37 A Prospective Tolerability and Safety Study of a Powdered Human Milk-based Breastmilk Fortifier (Neokare) in Neonates With Gastrointestinal Problems Recruiting NCT05293353
38 Prospective Randomised Blinded Study Comparing Full Thickness Biopsy and Rectal Suction Biopsies in the Diagnosis of Mb: Hirschsprung Recruiting NCT05307419
39 Long-term Qualitative and Quantitative Outcomes of Children With Hirschsprung's Disease and Anorectal Malformations Recruiting NCT05450991
40 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
41 Sacral Nerve Stimulation in Children and Adolescents With Chronic Constipation: a Case-control Study on Invasive and Non-invasive Neuromodulatory Treatment Recruiting NCT04713085
42 Comparison of Circular(Soave) and Heart-shaped Anastomosis in Hirschsprung's Disease: A Prospective Multicenter Randomized Controlled Trial Recruiting NCT02234219
43 Quality of Life in Patients With Hirschsprung's Disease in Relation to Surgical Technique: a Study of a Danish Population Active, not recruiting NCT04977752
44 Transition of Care for Patients With Hirschsprung Disease and Anorectal Malformations Enrolling by invitation NCT04106947
45 eHealth as an Aid for Facilitating and Supporting Self-management in Families With Long-term Childhood Illness - Development, Evaluation and Implementation in Clinical Practice Enrolling by invitation NCT04150120
46 Prospective Evaluation of the Efficacy and Safety of Submucosal Endoscopy Enrolling by invitation NCT03626350
47 Pre-Operative Mechanical Bowel Preparation And Prophylactic Oral Antibiotics For Pediatric Patients Undergoing Elective Colorectal Surgery: A Feasibility Randomized Controlled Trial Not yet recruiting NCT03593252 Senna;Sodium Picosulfate, Magnesium Oxide and Citric Acid;Metronidazole Oral;Neomycin;Cefazolin;Metronidazole
48 Electro-Entero-Graphy (EEnG) for Non-invasive Diagnosis of Motility Disorders of the Bowel Terminated NCT04624334

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 Aganglionic Megacolon 28 NRTN
2 Hirschsprung Disease, Susceptibility to, 1 28 RET
3 Hirschsprung Disease, Protection Against 28

Anatomical Context for Hirschsprung Disease 1

Organs/tissues related to Hirschsprung Disease 1:

MalaCards : Colon, Small Intestine, Thyroid, Smooth Muscle, Heart, Skin, Appendix

Publications for Hirschsprung Disease 1

Articles related to Hirschsprung Disease 1:

(show top 50) (show all 6439)
# Title Authors PMID Year
1
A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease. 53 62 57 5
16986122 2007
2
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. 53 62 57 5
15829955 2005
3
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. 53 62 57 5
7581377 1995
4
Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease. 53 62 57 5
7904208 1993
5
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. 62 57 5
8001158 1994
6
Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. 57 5
8114940 1994
7
A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling. 53 62 5
18280283 2008
8
Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence. 53 62 57
15956201 2005
9
Biological effects of the dual phenotypic Janus mutation of ret cosegregating with both multiple endocrine neoplasia type 2 and Hirschsprung's disease. 53 62 5
14715928 2004
10
Novel RET mutations in Hirschsprung's disease patients from the diverse South African population. 53 62 5
11436122 2001
11
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. 53 62 57
10618407 2000
12
Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. 53 62 57
10528857 1999
13
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. 53 62 5
10090908 1999
14
Point nucleotidic changes in both the RET proto-oncogene and the endothelin-B receptor gene in a Hirschsprung disease patient associated with Down syndrome. 53 62 57
10458491 1999
15
Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines. 53 62 5
9879991 1998
16
Oncological implications of RET gene mutations in Hirschsprung's disease. 53 62 57
9824583 1998
17
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. 53 62 5
9700200 1998
18
Association of multiple endocrine neoplasia type 2 and Hirschsprung disease. 53 62 5
9681852 1998
19
Frequency of RET mutations in long- and short-segment Hirschsprung disease. 53 62 5
9090527 1997
20
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. 53 62 5
7881414 1994
21
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. 53 62 5
8084609 1994
22
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. 53 62 5
8114938 1994
23
Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease. 62 57
30970187 2019
24
Involvement of DNMT3B in the pathogenesis of Hirschsprung disease and its possible role as a regulator of neurogenesis in the human enteric nervous system. 62 57
24577265 2014
25
The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review. 62 5
24972642 2014
26
Thyroid cancer and co-occurring RET mutations in Hirschsprung disease. 62 5
23744765 2013
27
Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene. 62 5
21986619 2012
28
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. 62 5
20598273 2010
29
Clinical and genetic differences in total colonic aganglionosis in Hirschsprung's disease. 62 5
19853744 2009
30
Total colonic aganglionosis and Hirschsprung's disease: shades of the same or different? 62 5
19572138 2009
31
RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds. 62 5
18206480 2008
32
Hirschsprung disease, associated syndromes and genetics: a review. 62 57
17965226 2008
33
C620R mutation of the murine ret proto-oncogene: loss of function effect in homozygotes and possible gain of function effect in heterozygotes. 62 5
17372903 2007
34
The Ret(C620R) mutation affects renal and enteric development in a mouse model of Hirschsprung's disease. 62 5
16565500 2006
35
Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2. 62 57
15138456 2004
36
Hirschsprung disease is linked to defects in neural crest stem cell function. 62 57
12920301 2003
37
Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome. 62 5
12628594 2003
38
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. 62 57
12355085 2002
39
A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease. 62 57
12214285 2002
40
Segregation at three loci explains familial and population risk in Hirschsprung disease. 62 57
11953745 2002
41
Dissecting Hirschsprung disease. 62 57
11953748 2002
42
A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease. 62 57
10980580 2000
43
RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. 62 57
10922382 2000
44
RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems. 62 5
10790203 2000
45
Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease. 62 5
10521317 1999
46
Autonomic dysfunction in children with Hirschsprung's disease. 62 57
10235604 1999
47
Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B). 62 5
9760196 1998
48
Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease. 62 5
9502784 1998
49
Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype. 62 5
9230192 1997
50
Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype. 62 57
9359036 1997

Variations for Hirschsprung Disease 1

ClinVar genetic disease variations for Hirschsprung Disease 1:

5 (show top 50) (show all 297)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RET NM_020975.6(RET):c.*1969T>C SNV Protective
Likely Benign
13954 rs3026785 GRCh37: 10:43625686-43625686
GRCh38: 10:43130238-43130238
2 RET NM_020975.6(RET):c.1196C>T (p.Pro399Leu) SNV Pathogenic
274004 rs1554818362 GRCh37: 10:43604611-43604611
GRCh38: 10:43109163-43109163
3 RET NM_020975.6(RET):c.860G>A (p.Arg287Gln) SNV Pathogenic
560625 rs1564491460 GRCh37: 10:43600634-43600634
GRCh38: 10:43105186-43105186
4 RET NM_020975.6(RET):c.1280_1281del (p.Val427fs) MICROSAT Pathogenic
590798 rs1564494285 GRCh37: 10:43606667-43606668
GRCh38: 10:43111219-43111220
5 RET NM_020975.6(RET):c.111G>A (p.Trp37Ter) SNV Pathogenic
599630 rs1564489315 GRCh37: 10:43595944-43595944
GRCh38: 10:43100496-43100496
6 RET NM_020975.6(RET):c.2865dup (p.Pro956fs) DUP Pathogenic
599634 rs1564500612 GRCh37: 10:43619180-43619181
GRCh38: 10:43123732-43123733
7 RET NM_020975.6(RET):c.3143del (p.Leu1048fs) DEL Pathogenic
599635 rs1564501934 GRCh37: 10:43622126-43622126
GRCh38: 10:43126678-43126678
8 RET NM_020975.6(RET):c.712G>T (p.Glu238Ter) SNV Pathogenic
692052 rs1588866040 GRCh37: 10:43600486-43600486
GRCh38: 10:43105038-43105038
9 SOX10 and overlap with 3 gene(s) NM_001301131.1(POLR2F):c.294-27388_*10734del DEL Pathogenic
156718 GRCh37: 22:38409687-38447833
GRCh38: 22:38013680-38051826
10 RET NM_020975.6(RET):c.1852T>G (p.Cys618Gly) SNV Pathogenic
13905 rs76262710 GRCh37: 10:43609096-43609096
GRCh38: 10:43113648-43113648
11 RET NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) SNV Pathogenic
13916 rs77503355 GRCh37: 10:43609103-43609103
GRCh38: 10:43113655-43113655
12 RET NM_020975.6(RET):c.2410G>A (p.Val804Met) SNV Pathogenic
37102 rs79658334 GRCh37: 10:43614996-43614996
GRCh38: 10:43119548-43119548
13 RET NM_020975.6(RET):c.1858T>G (p.Cys620Gly) SNV Pathogenic
24905 rs77316810 GRCh37: 10:43609102-43609102
GRCh38: 10:43113654-43113654
14 RET NM_020975.6(RET):c.1858T>C (p.Cys620Arg) SNV Pathogenic
Likely Pathogenic
13915 rs77316810 GRCh37: 10:43609102-43609102
GRCh38: 10:43113654-43113654
15 RET NM_020975.6(RET):c.2370G>T (p.Leu790Phe) SNV Pathogenic
38612 rs75030001 GRCh37: 10:43613906-43613906
GRCh38: 10:43118458-43118458
16 RET NM_020975.6(RET):c.1901G>T (p.Cys634Phe) SNV Pathogenic
13911 rs75996173 GRCh37: 10:43609949-43609949
GRCh38: 10:43114501-43114501
17 RET NM_020975.6(RET):c.1947G>A (p.Ser649_Val650=) SNV Pathogenic/Likely Pathogenic
Likely Pathogenic
24929 rs377767412 GRCh37: 10:43609995-43609995
GRCh38: 10:43114547-43114547
18 RET NM_020975.6(RET):c.1879+1G>A SNV Likely Pathogenic
666595 rs1588873476 GRCh37: 10:43609124-43609124
GRCh38: 10:43113676-43113676
19 RET NM_020975.6(RET):c.1438G>A (p.Glu480Lys) SNV Likely Pathogenic
135189 rs537874538 GRCh37: 10:43606829-43606829
GRCh38: 10:43111381-43111381
20 MCS+9.7, LOC110121502, RET NM_020975.6(RET):c.73+9277T>C SNV Risk Factor
Risk Factor
13952 rs2435357 GRCh37: 10:43582056-43582056
GRCh38: 10:43086608-43086608
21 RET NM_020975.6(RET):c.1825T>C (p.Cys609Arg) SNV Likely Pathogenic
13944 rs77558292 GRCh37: 10:43609069-43609069
GRCh38: 10:43113621-43113621
22 AXIN2 NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) SNV Likely Pathogenic
127941 rs138287857 GRCh37: 17:63532528-63532528
GRCh38: 17:65536410-65536410
23 POLR2F, SOX10 NM_006941.4(SOX10):c.832A>G (p.Ile278Val) SNV Likely Pathogenic
599421 rs760539449 GRCh37: 22:38370071-38370071
GRCh38: 22:37974064-37974064
24 RET NM_020975.6(RET):c.1438G>T (p.Glu480Ter) SNV Likely Pathogenic
1709650 GRCh37: 10:43606829-43606829
GRCh38: 10:43111381-43111381
25 RET NM_020975.6(RET):c.1941C>T (p.Ile647_Val648=) SNV Risk Factor
13939 rs75225191 GRCh37: 10:43609989-43609989
GRCh38: 10:43114541-43114541
26 RET NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) SNV Risk Factor
Uncertain Significance
13948 rs79853121 GRCh37: 10:43622099-43622099
GRCh38: 10:43126651-43126651
27 RET NM_020975.6(RET):c.1880-2A>G SNV Likely Pathogenic
36725 rs193922699 GRCh37: 10:43609926-43609926
GRCh38: 10:43114478-43114478
28 SOX10, POLR2F NM_001301130.2(POLR2F):c.453-24294G>C SNV Likely Pathogenic
156719 rs533778281 GRCh37: 22:38412781-38412781
GRCh38: 22:38016774-38016774
29 SOX10, POLR2F NM_001301130.2(POLR2F):c.453-24860G>A SNV Likely Pathogenic
156720 rs606231342 GRCh37: 22:38412215-38412215
GRCh38: 22:38016208-38016208
30 RET NM_020975.6(RET):c.938G>A (p.Arg313Gln) SNV Risk Factor
Uncertain Significance
13932 rs77702891 GRCh37: 10:43601894-43601894
GRCh38: 10:43106446-43106446
31 NCLN NM_020170.4(NCLN):c.496C>T (p.Gln166Ter) SNV Likely Pathogenic
375276 rs1057519322 GRCh37: 19:3193402-3193402
GRCh38: 19:3193404-3193404
32 NUP98 NM_016320.5(NUP98):c.5207A>G (p.Asn1736Ser) SNV Likely Pathogenic
375277 rs1057519323 GRCh37: 11:3697585-3697585
GRCh38: 11:3676355-3676355
33 DENND3 NM_001352890.3(DENND3):c.2160del (p.Lys720fs) DEL Likely Pathogenic
375278 rs1057519052 GRCh37: 8:142178509-142178509
GRCh38: 8:141168410-141168410
34 TBATA NM_001318241.2(TBATA):c.157C>T (p.Arg53Cys) SNV Likely Pathogenic
375275 rs759944122 GRCh37: 10:72541677-72541677
GRCh38: 10:70781921-70781921
35 IHH NM_002181.4(IHH):c.151C>A (p.Gln51Lys) SNV Likely Pathogenic
273383 rs1553540620 GRCh37: 2:219925039-219925039
GRCh38: 2:219060317-219060317
36 GLI3 NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) SNV Likely Pathogenic
13831 rs121917716 GRCh37: 7:42007506-42007506
GRCh38: 7:41967908-41967908
37 NRG3 NM_001010848.4(NRG3):c.1951G>A (p.Glu651Lys) SNV Likely Pathogenic
599415 rs138878772 GRCh37: 10:84745221-84745221
GRCh38: 10:82985465-82985465
38 EDN3 NM_207034.3(EDN3):c.565dup (p.Thr189fs) DUP Likely Pathogenic
227351 rs11570344 GRCh37: 20:57897443-57897444
GRCh38: 20:59322388-59322389
39 PHOX2B NM_003924.4(PHOX2B):c.445C>G (p.Arg149Gly) SNV Likely Pathogenic
599417 rs1560465785 GRCh37: 4:41748324-41748324
GRCh38: 4:41746307-41746307
40 ECE1 NM_001397.3(ECE1):c.1067T>G (p.Phe356Cys) SNV Likely Pathogenic
599418 rs765763704 GRCh37: 1:21573810-21573810
GRCh38: 1:21247317-21247317
41 ECE1 NM_001397.3(ECE1):c.1879C>T (p.Arg627Trp) SNV Likely Pathogenic
599419 rs200894751 GRCh37: 1:21551904-21551904
GRCh38: 1:21225411-21225411
42 PROKR1 NM_138964.4(PROKR1):c.1019T>A (p.Leu340Gln) SNV Likely Pathogenic
599422 rs144018404 GRCh37: 2:68882545-68882545
GRCh38: 2:68655413-68655413
43 DSCAM NM_001389.5(DSCAM):c.2363C>T (p.Ala788Val) SNV Likely Pathogenic
599423 rs1419539530 GRCh37: 21:41561159-41561159
GRCh38: 21:40189232-40189232
44 RET NM_020975.6(RET):c.860G>T (p.Arg287Leu) SNV Likely Pathogenic
692071 rs1564491460 GRCh37: 10:43600634-43600634
GRCh38: 10:43105186-43105186
45 RET NM_020975.6(RET):c.1753T>C (p.Cys585Arg) SNV Likely Pathogenic
695031 rs1588872865 GRCh37: 10:43608405-43608405
GRCh38: 10:43112957-43112957
46 RET NM_020975.6(RET):c.95C>T (p.Ser32Leu) SNV Likely Pathogenic
Risk Factor
13923 rs76764689 GRCh37: 10:43595928-43595928
GRCh38: 10:43100480-43100480
47 RET NM_020975.6(RET):c.2629G>C (p.Ala877Pro) SNV Likely Pathogenic
870394 rs1838178869 GRCh37: 10:43615550-43615550
GRCh38: 10:43120102-43120102
48 RET NM_020975.6(RET):c.440T>C (p.Phe147Ser) SNV Likely Pathogenic
599631 rs1564490097 GRCh37: 10:43597892-43597892
GRCh38: 10:43102444-43102444
49 RET NM_020975.6(RET):c.604G>C (p.Val202Leu) SNV Likely Pathogenic
599632 rs751572082 GRCh37: 10:43598056-43598056
GRCh38: 10:43102608-43102608
50 RET NM_020975.6(RET):c.1831T>C (p.Cys611Arg) SNV Likely Pathogenic
24896 rs377767391 GRCh37: 10:43609075-43609075
GRCh38: 10:43113627-43113627

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

73 (show top 50) (show all 66)
# 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 rs1564491460
7 RET p.Arg330Gln VAR_006302 rs80236571
8 RET p.Phe393Leu VAR_006303 rs78098482
9 RET p.Pro399Leu VAR_006304 rs1554818362
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 rs1451004715
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 rs1255575160
36 RET p.Glu762Gln VAR_009481
37 RET p.Tyr791Phe VAR_009483 rs77724903
38 RET p.Arg813Gln VAR_009484 rs1318733775
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.Pro1039Leu VAR_018157 rs79853121
44 RET p.Val145Gly VAR_035711 rs1588863999
45 RET p.Pro155Leu VAR_067102
46 RET p.Arg175Pro VAR_067103
47 RET p.Thr278Ala VAR_067104 rs541929171
48 RET p.Thr278Pro VAR_067105
49 RET p.Asp300Asn VAR_067106
50 RET p.Ser316Ile VAR_067107 rs1060499894

Copy number variations for Hirschsprung Disease 1 from CNVD:

6 (show top 50) (show all 71)
# CNVD ID Chromosome 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 KIFBP 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 ZEB2 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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.78 SREBF1 SMO RGS6 RET NRTN GFRA1
2
Show member pathways
11.22 RET NRTN GFRA1
3 10.79 SMO RET GFRA1

GO Terms for Hirschsprung Disease 1

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane region GO:0098590 9.16 ERBB3 ERBB2
2 obsolete spanning component of plasma membrane GO:0044214 8.96 ERBB3 ERBB2
3 ERBB3:ERBB2 complex GO:0038143 8.92 ERBB3 ERBB2

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 10.18 EDN3 EDNRB ERBB2 GFRA1 SMO
2 nervous system development GO:0007399 10.16 RET NRTN GFRA1 ERBB3 ERBB2 EDNRB
3 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 10.06 ERBB2 ERBB3 NRTN RET
4 neuron projection development GO:0031175 9.95 NRTN GFRA1 EDN3 ECE1
5 regulation of oxidative phosphorylation GO:0002082 9.86 ATP7A ABCD1
6 positive regulation of cell size GO:0045793 9.85 RET ATP7A
7 melanocyte differentiation GO:0030318 9.85 SOX10 EDNRB EDN3
8 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.84 RET GFRA1
9 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.8 EDN3 ECE1
10 multicellular organism development GO:0007275 9.74 RET ERBB3 ERBB2
11 ERBB2-ERBB3 signaling pathway GO:0038133 9.73 ERBB3 ERBB2
12 enteric nervous system development GO:0048484 9.73 EDNRB RET SOX10
13 vein smooth muscle contraction GO:0014826 9.71 EDNRB EDN3
14 posterior midgut development GO:0007497 9.62 RET EDNRB
15 peripheral nervous system development GO:0007422 9.56 SOX10 ERBB3 ERBB2 EDNRB
16 neural crest cell migration GO:0001755 9.4 SOX10 SMO RET NRTN EDNRB EDN3
17 regulation of biological quality GO:0065008 9.33 EDNRB EDN3 ATP7A

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.35 RET ERBB3 ERBB2
2 ErbB-3 class receptor binding GO:0043125 8.92 ERBB3 ERBB2

Sources for Hirschsprung Disease 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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