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MCID: PYL006
MIFTS: 48

Pyloric Stenosis

Categories: Gastrointestinal diseases
Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Pyloric Stenosis

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MalaCards integrated aliases for Pyloric Stenosis:

Name: Pyloric Stenosis 12 29 54 6 43 15 17 71

Classifications:

MalaCards categories:
Anatomical: Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:12639
MeSH 43 D011707
NCIt 49 C34966
SNOMED-CT 67 367403001
ICD10 32 K31.1
UMLS 71 C0034194
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Summaries for Pyloric Stenosis

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MalaCards based summary : Pyloric Stenosis is related to pyloric stenosis, infantile hypertrophic, 1 and hypertrophic pyloric stenosis. An important gene associated with Pyloric Stenosis is MAP1B (Microtubule Associated Protein 1B). The drugs Azithromycin and Cimetropium have been mentioned in the context of this disorder. Affiliated tissues include pancreas, small intestine and liver, and related phenotypes are mortality/aging and digestive/alimentary

Wikipedia : 74 Pyloric stenosis is a narrowing of the opening from the stomach to the first part of the small intestine... more...

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Related Diseases for Pyloric Stenosis

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Diseases related to Pyloric Stenosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 337)
# Related Disease Score Top Affiliating Genes
1 pyloric stenosis, infantile hypertrophic, 1 35.2 NOS1 LOC111258526
2 hypertrophic pyloric stenosis 31.9 TRPC6 TRPC5 SST RET NTRK1 NOS1
3 duodenal ulcer 31.1 SST MLN GAST
4 achalasia 30.9 RET NOS1 GAST BLVRB
5 intestinal obstruction 30.9 SST RET MLN
6 hypoganglionosis 30.6 RET BLVRB
7 megacolon 30.4 RET NTRK1 BLVRB
8 hernia, hiatus 30.3 GAST FOXF1 BARX1
9 gastritis, familial giant hypertrophic 30.3 GAST BARX1
10 gastroparesis 30.2 SST NOS1 MLN GAST
11 dumping syndrome 30.2 SST MLN GAST
12 stomach disease 30.1 SST MLN GAST
13 constipation 30.0 SST RET NOS1 MLN GAST
14 hirschsprung disease 1 29.8 RET NTRK1 NOS1 KCNN3 BLVRB
15 pyloric stenosis, infantile hypertrophic, 5 12.6
16 pyloric stenosis, infantile hypertrophic, 2 12.6
17 pyloric stenosis, infantile hypertrophic, 4 12.6
18 pyloric stenosis, infantile hypertrophic, 3 12.6
19 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 12.4
20 acquired gastric outlet stenosis 12.2
21 duodenal atresia 11.7
22 congenital generalized lipodystrophy 11.5
23 epidermolysis bullosa junctionalis with pyloric atresia 11.4
24 myhre syndrome 11.4
25 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.6
26 gastritis 10.6
27 peptic ulcer disease 10.6
28 pylorospasm 10.5
29 esophageal atresia 10.5
30 gastric ulcer 10.5
31 gastric cancer 10.5
32 muscle hypertrophy 10.5
33 gastroesophageal reflux 10.4
34 gastroenteritis 10.4
35 postcholecystectomy syndrome 10.4 MLN GAST
36 gastrointestinal neuroendocrine benign tumor 10.4 SST GAST
37 eosinophilic gastroenteritis 10.4
38 non-functioning pancreatic endocrine tumor 10.4 SST GAST
39 multiple mucosal neuroma 10.4 RET NTRK1
40 rectum neuroendocrine neoplasm 10.4 SST GAST
41 gastric neuroendocrine neoplasm 10.4 SST GAST
42 volvulus of midgut 10.4
43 bilirubin metabolic disorder 10.4
44 crohn's disease 10.4
45 functional colonic disease 10.4 SST MLN
46 duodenal gastrinoma 10.4 SST GAST
47 tall cell variant papillary carcinoma 10.4 RET NTRK1
48 appendix lymphoma 10.3 SST GAST
49 glucagonoma 10.3 SST GAST
50 gastric dilatation 10.3

Graphical network of the top 20 diseases related to Pyloric Stenosis:



Diseases related to Pyloric Stenosis
Sources

Symptoms & Phenotypes for Pyloric Stenosis

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MGI Mouse Phenotypes related to Pyloric Stenosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.1 BARX1 DNM2 FOXF1 GAST IGF1 KCNN3
2 digestive/alimentary MP:0005381 9.92 BARX1 DNM2 FOXF1 GAST NKX2-5 NOS1
3 muscle MP:0005369 9.81 DNM2 FOXF1 IGF1 MBNL1 NKX2-5 NOS1
4 nervous system MP:0003631 9.73 DNM2 IGF1 KCNN3 MAP1B MBNL1 NKX2-5
5 no phenotypic analysis MP:0003012 9.17 KCNN3 NKX2-5 NOS1 NTRK1 RET SST
Sources

Drugs & Therapeutics for Pyloric Stenosis

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Drugs for Pyloric Stenosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azithromycin Approved Phase 4 83905-01-5 447043 55185
2
Cimetropium Experimental, Investigational Phase 4 150521-16-7
3 Pharmaceutical Solutions Phase 4
4 Parasympatholytics Phase 4
5 Anticonvulsants Phase 4
6 Bromides Phase 4
7 Cola Phase 4
8 Anti-Bacterial Agents Phase 4
9 Anti-Infective Agents Phase 4
10
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
11
Mecamylamine Approved, Investigational Phase 2 60-40-2 4032
12
Ethanol Approved Phase 2 64-17-5 702
13 Cholinergic Agents Phase 2
14 Cholinergic Antagonists Phase 2
15 Neurotransmitter Agents Phase 2
16 Antihypertensive Agents Phase 2
17 Antidepressive Agents Phase 2
18
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202
19
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
20
Epinephrine Approved, Vet_approved 51-43-4 5816
21
Rocuronium Approved 119302-91-9, 143558-00-3 441290
22
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
23
Racepinephrine Approved 329-65-7 838
24
Sevoflurane Approved, Vet_approved 28523-86-6 5206
25
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
26
Sodium citrate Approved, Investigational 68-04-2
27
Methylene blue Approved, Investigational 61-73-4
28
Esomeprazole Approved, Investigational 161796-78-7, 119141-88-7, 161973-10-0 9568614 4594
29
Acetaminophen Approved 103-90-2 1983
30
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
31 Mosapride Investigational 112885-41-3
32 Epinephryl borate
33 Citrate
34 Antacids
35 Anti-Ulcer Agents
36 Serotonin Receptor Agonists
37 Gastrointestinal Agents
38 Proton Pump Inhibitors
39 Analgesics, Non-Narcotic
40 Analgesics
41 Antipyretics
42 Hemostatics
43 Anesthetics

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Usefulness Of Flospan As A Premedication For Colonoscopy : A Randomized Double Blind Controlled Trial Unknown status NCT01842932 Phase 4 Phloroglucin;Cimetropium bromide;Placebo
2 Phase IV Study of Double Bare Self-expandable Metallic Stent for Malignant Gastric Outlet Obstruction Unknown status NCT02156505 Phase 4
3 Outcomes of Stapled Trans-Anal Rectal Resection (STARR) vs. Biofeedback in the Treatment of Outlet Obstruction Associated With Rectal Intussusception and Rectocele: A Multi-center Randomized Controlled Trial Completed NCT00556283 Phase 4
4 Neonates and Azithromycin, an Innovation in the Treatment of Children in Burkina Faso Recruiting NCT03682653 Phase 4 Azithromycin;Placebo
5 Laparoscopic Versus Open Pyloromyotomy for Infants With Idiopathic Hypertrophic Pyloric Stenosis Completed NCT00195949 Phase 3
6 Comparison of Efficacy of Covered Versus Uncovered Self-expandable Metallic Stents for Treatment of Malignant Gastric Outlet Obstruction: a Prospective, Randomized Study Completed NCT01646476 Phase 3
7 Partially Covered Versus Uncovered Pyloro-duodenal Stents for Unresectable Malignant Gastric Outlet Obstruction. A Double Blinded Randomised Controlled Trial. Recruiting NCT03223831 Phase 3
8 EUS - Guided Balloon-occluded Gastrojejunostomy Bypass (EPASS) for Unresectable Malignant Gastric Outlet Obstruction. Recruiting NCT03223480 Phase 2, Phase 3
9 Pre-delivery Administration of Azithromycin to Prevent Neonatal Sepsis and Death: a Phase III Double-blind Randomized Clinical Trial Recruiting NCT03199547 Phase 3 Azithromycin;Placebo Oral Tablet
10 Treatment With Mecamylamine in Smoking and Non-smoking Alcohol Dependent Patients Completed NCT00342563 Phase 2 mecamylamine;Placebo
11 A Double-Blind,Randomized,Placebo-Controlled Trial of Mecamylamine Hydrochloride for the Treatment of SSRI-Refractory Major Depressive Disorder. Completed NCT00319319 Phase 2 Mecamylamine hydrochloride (Inversine)
12 Open vs Laparoscopic Pyloromyotomy for Pyloric Stenosis Unknown status NCT00144924
13 The Effect of Hypertrophic Pyloric Stenosis (HPS) on Sodium Intake in Childhood Unknown status NCT01159509
14 Post-operative Outcomes in the Pyloromyotomy Procedure Under Spinal Anesthesia: A Retrospective Study in 100 Cases Unknown status NCT02879292
15 The Usefulness of Self-expandable Metal Stents(SEMS) for Malignant Gastric Outlet Obstruction: a Prospective Study Using New Designed Stents Unknown status NCT02440724
16 A Retrospective Comparative Study, Post Operative Outcomes of Pyloromyotomy Procedure Under Spinal Anesthesia Compared to General Anesthesia Unknown status NCT03095144
17 Cooperative Group for Clinical Research in G-POEM (POP), Jiangsu, China Unknown status NCT03040817 Esomeprazole + Mosapride
18 Post-Operative Impact of Nasogastric Tubes on Rates of Emesis in Infants Diagnosed With Pyloric Stenosis: A Prospective, Randomized Controlled Pilot Trial Completed NCT01139853 Early Phase 1
19 Institutional Audit of the Use of Intravenous Acetaminophen in Infants Undergoing Pyloromyotomy Completed NCT02359305 Acetaminophen;Acetaminophen
20 Frequency of Formula Change Prior to the Accurate Diagnosis of Pyloric Stenosis Completed NCT00409734
21 A Newly Designed Conformable Uncovered Versus Covered Self-expandable Metallic Stent for Palliation of Malignant Gastric Outlet Obstruction: a Prospective, Randomized Multicenter Study Completed NCT01839292
22 Treatment of Duodenal or Gastric Outlet Obstruction and Duodenal Strictures Caused by Malignant Neoplasms With the EVOLUTION® Duodenal Stent Completed NCT00991614
23 Changes in Cerebral Oxygenation During Laparoscopic Pyloromyotomy Completed NCT03650842
24 Prospective Randomized Trial Evaluating the Feeding Regimen After Pyloromyotomy. Completed NCT01509417
25 A Multicenter Randomized Controlled Trial of Malignant Gastric Outlet Obstruction: Tailored Partially Covered Stents (Placed Fluoroscopically) Versus Standard Uncovered Stents (Placed Endoscopically) Completed NCT02299258
26 A Prospective Randomized Trial to Assess Optimal Postoperative Feeding Regiments Following Pyloromyotomy Completed NCT02415049
27 Per-oral Pyloromyotomy for Treating Infantile Hypertrophic Pyloric Stenosis Recruiting NCT04148040
28 Evaluation of the Efficacy of Duodenal Prostheses Not Covered Over 6 Years Recruiting NCT03463668
29 Natural History of Infants With Patent Processus Vaginalis Recruiting NCT03042858
30 Conventional Direct Laryngoscopy Vs. Video Laryngoscopy With The C-MAC For Pyloromyotomy Enrolling by invitation NCT02775214
31 EUS-guided Gastroenterostomy Versus Enteral Stenting for Palliation of Malignant Gastric Outlet Obstruction: A Randomized Clinical Trial Not yet recruiting NCT03259763
32 AspireAssist for Palliative Venting Gastrostomy in Malignant Bowel Obstruction Patients Not yet recruiting NCT04375462
33 EUS-guided Balloon-occluded Gastrojejunostomy Bypass (EPASS) Versus Uncovered Duodenal Stent for Unresectable Malignant Gastric Outlet Obstruction. Not yet recruiting NCT03823690
34 Endoscopic Gastroenteric Anastomosis Formed by Magnetic Compression and Stent Placement for Palliation of Malignant Gastric Outlet Obstruction Terminated NCT00487552

Search NIH Clinical Center for Pyloric Stenosis

Cochrane evidence based reviews: pyloric stenosis

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Genetic Tests for Pyloric Stenosis

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Genetic tests related to Pyloric Stenosis:

# Genetic test Affiliating Genes
1 Pyloric Stenosis 29
Sources

Anatomical Context for Pyloric Stenosis

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MalaCards organs/tissues related to Pyloric Stenosis:

40
Pancreas, Small Intestine, Liver, Testes, Heart, Colon, Breast
Sources

Publications for Pyloric Stenosis

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Articles related to Pyloric Stenosis:

(show top 50) (show all 3087)
# Title Authors PMID Year
1
No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis. 54 61
19851341 2009
2
Nonfatal congenital alveolar dysplasia due to abnormalities of NO synthase isoforms. 61 54
17590189 2007
3
Pyloric stenosis in a newborn baby with polycystic kidneys. 61 54
17262047 2007
4
Low plasma nitrite in infantile hypertrophic pyloric stenosis patients. 61 54
16758311 2006
5
[Pyloric stenosis and neuronal nitric oxide synthase]. 61 54
15361336 2004
6
Single-nucleotide promoter polymorphism alters transcription of neuronal nitric oxide synthase exon 1c in infantile hypertrophic pyloric stenosis. 54 61
14757827 2004
7
Pathophysiological significance of neuronal nitric oxide synthase in the gastrointestinal tract. 61 54
12768383 2003
8
Gastrin, somatostatin and infantile hypertrophic pyloric stenosis. 54 61
11529535 2001
9
Nitric oxide synthase is absent in only a subset of cases of pyloric stenosis. 61 54
11283889 2001
10
Distinct expression of splice variants of neuronal nitric oxide synthase in the human gastrointestinal tract. 54 61
10784584 2000
11
Endogenous nitric oxide synthesis: biological functions and pathophysiology. 54 61
10630682 1999
12
Neuronal nitric oxide synthase, nNOS, is not linked to infantile hypertrophic pyloric stenosis in three families. 54 61
9660065 1998
13
Altered messenger RNA expression of the neuronal nitric oxide synthase gene in infantile hypertrophic pyloric stenosis. 54 61
9354728 1997
14
Gastric somatostatin content and binding in children with hypertrophic pyloric stenosis: a long-term follow-up study. 61 54
8786484 1995
15
Nitric oxide in the peripheral nervous system. 61 54
7546628 1995
16
Immunochemical characterization of neural cell adhesion molecule (NCAM), nitric oxide synthase, and neurofilament protein expression in pyloric muscle of patients with pyloric stenosis. 61 54
7541835 1995
17
Serum gastrin level and gastric somatostatin content and binding in long-term pyloromyotomized children. 54 61
7913200 1994
18
Nitric oxide synthase activity in infantile hypertrophic pyloric stenosis. 54 61
1378938 1992
19
Pediatric emergency gastrointestinal ultrasonography: pearls & pitfalls. 61
32438254 2020
20
The cause of pyloric stenosis of infancy: A hyperacidity pathogenesis. 61
26654484 2020
21
Pediatric Surgery Simulation-Based Training for the General Surgery Resident. 61
32561030 2020
22
Ectopic pancreatitis in the antral stomach causing gastric outlet obstruction: a case of successful resection. 61
31758484 2020
23
[Complete Response of Liver Metastases from a HER2-Positive Gastric Cancer Treated with Combined S-1/Trastuzumab Chemotherapy]. 61
32408330 2020
24
Infantile hypertrophic pyloric stenosis in patients with esophageal atresia. 61
32298054 2020
25
Does Maternal Omega 3 Supplementation Protect Against Infantile Hypertrophic Pyloric Stenosis? 61
31990865 2020
26
Temporal caterpillar sign in a case of infantile hypertrophic pyloric stenosis. 61
32463578 2020
27
Incidence and importance of portal venous gas in children with hypertrophic pyloric stenosis. 61
32462306 2020
28
The Safety and Effectiveness of Laparoscopic versus Open Surgery for Congenital Hypertrophic Pyloric Stenosis in Infants. 61
32407297 2020
29
Peroral pyloromyotomy for the treatment of infantile hypertrophic pyloric stenosis. 61
31652470 2020
30
Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4. 61
31778856 2020
31
Perioperative apnea in infants with hypertrophic pyloric stenosis: A systematic review. 61
32298502 2020
32
[A Case of Advanced Gastric Cancer with Umbilical Metastasis, Pyloric Stenosis, and Peritoneal Dissemination Underwent Palliative Surgery after Chemotherapy]. 61
32381933 2020
33
Long-term follow-up in surgical newborns: A single-institution experience. 61
32201108 2020
34
Are we performing ultrasound measurements of the wall thickness in hypertrophic pyloric stenosis studies the same way? 61
31758244 2020
35
The story of infantile pyloric stenosis. 61
32116120 2020
36
Anesthetic Management of Laparoscopic Pyloromyotomy for Pyloric Stenosis in a Neonate with Hereditary Spherocytosis. 61
32300497 2020
37
General surgery of childhood in the UK: a general surgeon's perspective. 61
31757504 2020
38
Bezoar in upper gastrointestinal endoscopy: A single center experience. 61
32141815 2020
39
Focal pyloric hypertrophy in adults: a diagnostic pitfall-a case report and review of the literature. 61
31346979 2020
40
Gastrointestinal: Natural progression of early gastric cancer causing pyloric stenosis. 61
31273829 2020
41
A Delphi Analysis to Reach Consensus on Preoperative Care in Infants with Hypertrophic Pyloric Stenosis. 61
31958865 2020
42
Feeding problems and gastrointestinal diseases in Down syndrome. 61
31784293 2020
43
PINPOINT® can be used for photodynamic diagnosis based on 5-aminolevulinic acid-induced protoporphyrinIX in gastric cancer surgery: Report of a case. 61
32248016 2020
44
George Armstrong: pioneer paediatrician. 61
32003619 2020
45
Comparison of laparoscopic and open pyloromyotomy: Concerns for omental herniation at port sites after the laparoscopic approach. 61
31941898 2020
46
Differences in Outcomes Based on Sex for Pediatric Patients Undergoing Pyloromyotomy. 61
31421364 2020
47
Neonatal eosinophilic gastroenteritis mimicking hypertrophic pyloric stenosis. 61
31997530 2020
48
50 Years Ago in TheJournalofPediatrics: Pyloric Stenosis in the Racial Groups of Hawaii. 61
31843121 2020
49
Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis. 61
31502381 2019
50
Pyloric Stenosis: National Trends in the Incidence Rate and Resource Use in the United States From 2012 to 2016. 61
31748239 2019
Sources

Variations for Pyloric Stenosis

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ClinVar genetic disease variations for Pyloric Stenosis:

6 (show top 50) (show all 119) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAP1B NM_005909.5(MAP1B):c.5368C>T (p.Arg1790Ter)SNV Pathogenic 638688 5:71494550-71494550 5:72198723-72198723
2 CHD7 NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter)SNV Likely pathogenic 523522 rs367557471 8:61734614-61734614 8:60822055-60822055
3 CAMTA1 NM_015215.4(CAMTA1):c.2153A>G (p.Tyr718Cys)SNV Likely pathogenic 691417 1:7724760-7724760 1:7664700-7664700
4 CELF3 NM_007185.7(CELF3):c.367G>A (p.Glu123Lys)SNV Likely pathogenic 691420 1:151681735-151681735 1:151709259-151709259
5 SOX2 NM_003106.4(SOX2):c.698C>G (p.Pro233Arg)SNV Likely pathogenic 691384 3:181430846-181430846 3:181713058-181713058
6 TENT5A NM_017633.3(TENT5A):c.65C>G (p.Pro22Arg)SNV Likely pathogenic 691346 6:82461794-82461794 6:81752077-81752077
7 UNC13A NM_001080421.2(UNC13A):c.4225G>A (p.Gly1409Ser)SNV Likely pathogenic 691465 19:17732658-17732658 19:17621849-17621849
8 ZAP70 NM_001079.3(ZAP70):c.880C>G (p.Pro294Ala)SNV Likely pathogenic 691471 2:98350049-98350049 2:97733586-97733586
9 KALRN NM_001024660.4(KALRN):c.5395A>G (p.Ser1799Gly)SNV Likely pathogenic 691361 3:124351485-124351485 3:124632638-124632638
10 SH3KBP1 NM_031892.3(SH3KBP1):c.801G>C (p.Lys267Asn)SNV Likely pathogenic 691378 X:19663519-19663519 X:19645401-19645401
11 RPGR NM_000328.3(RPGR):c.780G>T (p.Glu260Asp)SNV Uncertain significance 691374 X:38164042-38164042 X:38304789-38304789
12 SLC38A5 NM_033518.4(SLC38A5):c.517C>G (p.Leu173Val)SNV Uncertain significance 691383 X:48321340-48321340 X:48462955-48462955
13 WDR13 NM_001347217.2(WDR13):c.911C>T (p.Thr304Ile)SNV Uncertain significance 691467 X:48460251-48460251 X:48601863-48601863
14 CDC27 NM_001256.6(CDC27):c.4A>G (p.Thr2Ala)SNV Uncertain significance 691419 17:45266535-45266535 17:47189169-47189169
15 DSCAM NM_001389.5(DSCAM):c.4979T>A (p.Ile1660Asn)SNV Uncertain significance 691432 21:41427708-41427708 21:40055781-40055781
16 46;XY;t(2;13)(p25.2;q31.3)dnTranslocation Uncertain significance 267864
17 TMCC1 NM_001349272.1(TMCC1):c.889C>T (p.Arg297Trp)SNV Uncertain significance 691459 3:129389276-129389276 3:129670433-129670433
18 KALRN NM_001024660.4(KALRN):c.2876T>C (p.Val959Ala)SNV Uncertain significance 691362 3:124153206-124153206 3:124434359-124434359
19 ATP13A1 NM_020410.3(ATP13A1):c.1790C>T (p.Ala597Val)SNV Uncertain significance 691411 19:19765375-19765375 19:19654566-19654566
20 KMT2B NM_014727.2(KMT2B):c.4166C>T (p.Thr1389Ile)SNV Uncertain significance 691443 19:36218387-36218387 19:35727486-35727486
21 CLIP3 NM_015526.3(CLIP3):c.1255G>A (p.Gly419Arg)SNV Uncertain significance 691424 19:36508822-36508822 19:36017920-36017920
22 CLIP3 NM_015526.3(CLIP3):c.2T>C (p.Met1Thr)SNV Uncertain significance 691423 19:36523258-36523258 19:36032356-36032356
23 ATP1A3 NM_152296.5(ATP1A3):c.1978C>A (p.Leu660Ile)SNV Uncertain significance 691412 19:42480684-42480684 19:41976532-41976532
24 MEGF8 NM_001271938.2(MEGF8):c.124G>C (p.Gly42Arg)SNV Uncertain significance 691446 19:42830519-42830519 19:42326367-42326367
25 IRGQ NM_001007561.2(IRGQ):c.1000G>A (p.Glu334Lys)SNV Uncertain significance 691358 19:44097050-44097050 19:43592898-43592898
26 INSR NM_000208.4(INSR):c.3364G>A (p.Ala1122Thr)SNV Uncertain significance 691357 19:7122895-7122895 19:7122884-7122884
27 XAB2 NM_020196.3(XAB2):c.644A>G (p.Lys215Arg)SNV Uncertain significance 691468 19:7691035-7691035 19:7626149-7626149
28 XKR7 NM_001011718.2(XKR7):c.1025G>A (p.Trp342Ter)SNV Uncertain significance 691469 20:30584545-30584545 20:31996742-31996742
29 HSPA12B NM_052970.5(HSPA12B):c.944G>A (p.Arg315His)SNV Uncertain significance 691354 20:3730403-3730403 20:3749756-3749756
30 GNAS NM_001077488.4(GNAS):c.977C>T (p.Thr326Ile)SNV Uncertain significance 691351 20:57485392-57485392 20:58910337-58910337
31 DGCR8 NM_022720.7(DGCR8):c.1253G>A (p.Gly418Glu)SNV Uncertain significance 691428 22:20077728-20077728 22:20090205-20090205
32 PI4KA NM_058004.4(PI4KA):c.508G>C (p.Ala170Pro)SNV Uncertain significance 691368 22:21174848-21174848 22:20820560-20820560
33 GNAZ NM_002073.4(GNAZ):c.493G>A (p.Ala165Thr)SNV Uncertain significance 691352 22:23438375-23438375 22:23096188-23096188
34 MYH9 NM_002473.5(MYH9):c.5734C>T (p.Arg1912Cys)SNV Uncertain significance 691449 22:36680170-36680170 22:36284124-36284124
35 MID2 NM_012216.4(MID2):c.1757T>C (p.Ile586Thr)SNV Uncertain significance 691447 X:107169483-107169483 X:107926253-107926253
36 TENT5A NM_017633.3(TENT5A):c.64C>G (p.Pro22Ala)SNV Uncertain significance 691345 6:82461795-82461795 6:81752078-81752078
37 TENT5A NM_017633.3(TENT5A):c.26C>G (p.Ala9Gly)SNV Uncertain significance 691347 6:82461833-82461833 6:81752116-81752116
38 CUX1 NM_181552.4(CUX1):c.3367T>C (p.Ser1123Pro)SNV Uncertain significance 691426 7:101870883-101870883 7:102227603-102227603
39 ZNF777 NM_015694.3(ZNF777):c.2317A>G (p.Thr773Ala)SNV Uncertain significance 691473 7:149129046-149129046 7:149431955-149431955
40 KLHL7 NM_001031710.3(KLHL7):c.1268A>G (p.His423Arg)SNV Uncertain significance 691441 7:23207545-23207545 7:23167926-23167926
41 XPO7 NM_015024.5(XPO7):c.110T>G (p.Phe37Cys)SNV Uncertain significance 691470 8:21824459-21824459 8:21966948-21966948
42 NOTCH1 NM_017617.5(NOTCH1):c.6032T>C (p.Leu2011Pro)SNV Uncertain significance 691452 9:139393614-139393614 9:136499162-136499162
43 ANAPC2 NM_013366.4(ANAPC2):c.1399G>A (p.Gly467Ser)SNV Uncertain significance 691341 9:140076202-140076202 9:137181750-137181750
44 RORB NM_006914.4(RORB):c.953T>C (p.Val318Ala)SNV Uncertain significance 691373 9:77280464-77280464 9:74665548-74665548
45 SLC18A2 NM_003054.6(SLC18A2):c.1505C>A (p.Ser502Ter)SNV Uncertain significance 691382 10:119036737-119036737 10:117277226-117277226
46 ITGB1 NM_002211.4(ITGB1):c.2252G>A (p.Trp751Ter)SNV Uncertain significance 691359 10:33197375-33197375 10:32908447-32908447
47 DSCAML1 NM_020693.4(DSCAML1):c.4034A>G (p.Asn1345Ser)SNV Uncertain significance 691343 11:117310092-117310092 11:117439376-117439376
48 KMT2A NM_001197104.2(KMT2A):c.4816G>C (p.Glu1606Gln)SNV Uncertain significance 691442 11:118362030-118362030 11:118491315-118491315
49 CHST1 NM_003654.6(CHST1):c.1015G>A (p.Asp339Asn)SNV Uncertain significance 691422 11:45671459-45671459 11:45649909-45649909
50 AMBRA1 NM_001267782.2(AMBRA1):c.431C>T (p.Ala144Val)SNV Uncertain significance 691340 11:46567274-46567274 11:46545724-46545724
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Expression for Pyloric Stenosis

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Search GEO for disease gene expression data for Pyloric Stenosis.
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Pathways for Pyloric Stenosis

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GO Terms for Pyloric Stenosis

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Cellular components related to Pyloric Stenosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.35 RET NTRK1 MAP1B DST DNM2
2 cation channel complex GO:0034703 9.16 TRPC6 TRPC5
3 neuronal cell body GO:0043025 9.1 TRPC5 SST RET NTRK1 MAP1B KCNN3

Biological processes related to Pyloric Stenosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.8 TRPC5 RET NTRK1 MBNL1 MAP1B
2 response to drug GO:0042493 9.73 SST RET NTRK1 MAP1B
3 positive regulation of transcription, DNA-templated GO:0045893 9.63 RET NOS1 NKX2-5 IGF1 FOXF1 DNM2
4 cellular response to growth factor stimulus GO:0071363 9.5 NTRK1 NOS1 MAP1B
5 myoblast differentiation GO:0045445 9.46 MBNL1 IGF1
6 manganese ion transport GO:0006828 9.37 TRPC6 TRPC5
7 negative regulation of dendrite morphogenesis GO:0050774 9.26 TRPC6 TRPC5
8 response to heat GO:0009408 9.13 SST NOS1 IGF1
9 positive regulation of neuron differentiation GO:0045666 8.92 TRPC6 TRPC5 NKX2-5 MAP1B

Molecular functions related to Pyloric Stenosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inositol 1,4,5 trisphosphate binding GO:0070679 9.26 TRPC6 TRPC5
2 actinin binding GO:0042805 9.16 TRPC6 TRPC5
3 store-operated calcium channel activity GO:0015279 8.96 TRPC6 TRPC5
4 hormone activity GO:0005179 8.92 SST MLN IGF1 GAST
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Sources for Pyloric Stenosis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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