MCID: HYP009
MIFTS: 45

Hypertrophic Pyloric Stenosis

Categories: Gastrointestinal diseases

Aliases & Classifications for Hypertrophic Pyloric Stenosis

MalaCards integrated aliases for Hypertrophic Pyloric Stenosis:

Name: Hypertrophic Pyloric Stenosis 12 15
Pyloric Stenosis, Hypertrophic 45 74
Congenital or Infantile Stricture of Pylorus 12
Congenital Hypertrophic Pyloric Stenosis 12

Classifications:



External Ids:

Disease Ontology 12 DOID:12638
ICD9CM 36 750.5
MeSH 45 D046248
NCIt 51 C98952
SNOMED-CT 69 48644003
ICD10 34 Q40.0
UMLS 74 C0700639

Summaries for Hypertrophic Pyloric Stenosis

Disease Ontology : 12 A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting.

MalaCards based summary : Hypertrophic Pyloric Stenosis, also known as pyloric stenosis, hypertrophic, is related to achalasia and hirschsprung disease 1. An important gene associated with Hypertrophic Pyloric Stenosis is NOS1 (Nitric Oxide Synthase 1), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Neuroscience. The drugs Azithromycin and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and liver, and related phenotypes are behavior/neurological and cardiovascular system

Related Diseases for Hypertrophic Pyloric Stenosis

Diseases in the Hypertrophic Pyloric Stenosis family:

Pyloric Stenosis, Infantile Hypertrophic, 1 Pyloric Stenosis, Infantile Hypertrophic, 4
Pyloric Stenosis, Infantile Hypertrophic, 2 Pyloric Stenosis, Infantile Hypertrophic, 3
Pyloric Stenosis, Infantile Hypertrophic, 5

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

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 achalasia 30.7 NOS1 RET
2 hirschsprung disease 1 29.7 HMOX2 NOS1 NTRK3 RET
3 pyloric stenosis 29.6 DMD FOXF1 HMOX2 MBNL1 NKX2-5 NOS1
4 acquired gastric outlet stenosis 12.2
5 pyloric stenosis, infantile hypertrophic, 1 12.0
6 tracheoesophageal fistula with or without esophageal atresia 10.5
7 esophageal atresia 10.5
8 pylorospasm 10.4
9 tracheoesophageal fistula 10.4
10 gilbert syndrome 10.3
11 ichthyosis, x-linked 10.3
12 gastric ulcer 10.3
13 pertussis 10.3
14 heart disease 10.3
15 ichthyosis 10.3
16 diaphragmatic hernia, congenital 10.2
17 achalasia, familial esophageal 10.2
18 pulmonary hypertension 10.2
19 megaesophagus 10.2
20 gastroenteritis 10.2
21 adenomyoma 10.2
22 eosinophilic gastroenteritis 10.2
23 intestinal obstruction 10.2
24 intestinal volvulus 10.2
25 eosinophilic enteropathy 10.2
26 idiopathic achalasia 10.2
27 type c thymoma 10.0 NTRK3 SST
28 gastroesophageal reflux 10.0
29 blood group, colton system 10.0
30 hernia, hiatus 10.0
31 intussusception 10.0
32 visceral myopathy 10.0
33 osteoglophonic dysplasia 10.0
34 down syndrome 10.0
35 charge syndrome 10.0
36 citrullinemia, classic 10.0
37 cystic fibrosis 10.0
38 glaucoma 3, primary congenital, a 10.0
39 jejunal atresia 10.0
40 myasthenia gravis 10.0
41 phenylketonuria 10.0
42 insulin-like growth factor i 10.0
43 sudden infant death syndrome 10.0
44 bile duct cysts 10.0
45 pyloric stenosis, infantile hypertrophic, 5 10.0
46 muscle hypertrophy 10.0
47 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
48 crohn's disease 10.0
49 muscle disorders 10.0
50 congenital hypothyroidism 10.0

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



Diseases related to Hypertrophic Pyloric Stenosis

Symptoms & Phenotypes for Hypertrophic Pyloric Stenosis

MGI Mouse Phenotypes related to Hypertrophic Pyloric Stenosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 DMD HMOX2 MBNL1 NOS1 NTRK3 RET
2 cardiovascular system MP:0005385 10.09 DMD FOXF1 HMOX2 MBNL1 NKX2-5 NOS1
3 mortality/aging MP:0010768 10.02 DMD FOXF1 HMOX2 MBNL1 NKX2-5 NOS1
4 nervous system MP:0003631 9.96 DMD HMOX2 MBNL1 NKX2-5 NOS1 NTRK3
5 digestive/alimentary MP:0005381 9.95 DMD FOXF1 HMOX2 NKX2-5 NOS1 RET
6 muscle MP:0005369 9.92 DMD FOXF1 HMOX2 MBNL1 NKX2-5 NOS1
7 no phenotypic analysis MP:0003012 9.7 DMD NKX2-5 NOS1 NTRK3 RET SST
8 normal MP:0002873 9.43 DMD NKX2-5 NOS1 NTRK3 RET SST
9 respiratory system MP:0005388 9.17 DMD FOXF1 HMOX2 NKX2-5 NOS1 NTRK3

Drugs & Therapeutics for Hypertrophic Pyloric Stenosis

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azithromycin Approved Phase 4 83905-01-5 447043 55185
2
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
3
tannic acid Approved Phase 4 1401-55-4
4
Racepinephrine Approved 329-65-7 838
5
Rocuronium Approved 119302-91-9, 143558-00-3 441290
6
Bupivacaine Approved, Investigational 38396-39-3, 2180-92-9 2474
7
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
8
Sevoflurane Approved, Vet_approved 28523-86-6 5206
9
Epinephrine Approved, Vet_approved 51-43-4 5816
10
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
11 Central Nervous System Depressants
12 Anesthetics
13 Epinephryl borate
14 Bromides

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Neonates and Azithromycin, an Innovation in the Treatment of Children in Burkina Faso Recruiting NCT03682653 Phase 4 Azithromycin;Placebo
2 MORDOR II Burkina Faso: Longitudinal Trial Not yet recruiting NCT03676751 Phase 4 Azithromycin;Placebo
3 Laparoscopic Versus Open Pyloromyotomy for Infants With Idiopathic Hypertrophic Pyloric Stenosis Completed NCT00195949 Phase 3
4 The Effect of Hypertrophic Pyloric Stenosis (HPS) on Sodium Intake in Childhood Unknown status NCT01159509
5 Post-operative Outcomes in the Pyloromyotomy Procedure Under Spinal Anesthesia Unknown status NCT02879292
6 Spinal Anesthesia and General Anesthesia for Pyloromyotomy - Surgical Outcomes a Comparison Retrospective Study Unknown status NCT03095144

Search NIH Clinical Center for Hypertrophic Pyloric Stenosis

Cochrane evidence based reviews: pyloric stenosis, hypertrophic

Genetic Tests for Hypertrophic Pyloric Stenosis

Anatomical Context for Hypertrophic Pyloric Stenosis

MalaCards organs/tissues related to Hypertrophic Pyloric Stenosis:

42
Heart, Kidney, Liver, Testes, Breast, Pancreas, Smooth Muscle

Publications for Hypertrophic Pyloric Stenosis

Articles related to Hypertrophic Pyloric Stenosis:

(show top 50) (show all 875)
# Title Authors Year
1
ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation. ( 30019982 )
2019
2
Presentation and outcomes in hypertrophic pyloric stenosis: An 11-year review. ( 30677197 )
2019
3
The association of prenatal and postnatal macrolide exposure with subsequent development of infantile hypertrophic pyloric stenosis: a systematic review and meta-analysis. ( 30717812 )
2019
4
Caterpillar Sign in an Infant with Hypertrophic Pyloric Stenosis. ( 30723016 )
2019
5
Co-occurrence of infantile hypertrophic pyloric stenosis and congenital heart defects: a nationwide cohort study. ( 30862960 )
2019
6
Association between exposure to macrolides and the development of infantile hypertrophic pyloric stenosis: a systematic review and meta-analysis. ( 30470884 )
2019
7
Developmental outcome at 3 years of age of infants following surgery for infantile hypertrophic pyloric stenosis. ( 30402682 )
2019
8
The Application of Pyloric chisel in the Treatment of Hypertrophic Pyloric Stenosis by Single-Site Umbilical Laparoscopic Pyloromyotomy. ( 30289351 )
2019
9
Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis. ( 30281099 )
2019
10
The incidence of infantile hypertrophic pyloric stenosis and its association with folic acid supplementation during pregnancy: A nested case-control study. ( 29884554 )
2019
11
Endoscopic pyloroplasty for adult hypertrophic pyloric stenosis associated with esophageal achalasia. ( 29905182 )
2018
12
Population-level surgical outcomes for infantile hypertrophic pyloric stenosis. ( 28576429 )
2018
13
Atropine Treatment for Hypertrophic Pyloric Stenosis: A Systematic Review and Meta-Analysis. ( 28701002 )
2018
14
Epidemiological and clinical characteristics of 304 patients with infantile hypertrophic pyloric stenosis in Anhui Province of East China, 2012-2015. ( 28701060 )
2018
15
Prevalence and descriptive epidemiology of infantile hypertrophic pyloric stenosis in the United States: A multistate, population-based retrospective study, 1999-2010. ( 30549250 )
2018
16
Infantile Hypertrophic Pyloric Stenosis: An Epidemiological Review. ( 30567916 )
2018
17
Infantile hypertrophic pyloric stenosis - Our experience and challenges in a developing country. ( 30829305 )
2018
18
Hypertrophic pyloric stenosis following repair of oesophageal atresia and tracheo-oesophageal fistula in a neonate. ( 30244227 )
2018
19
Hypertrophic pyloric stenosis following persistent pulmonary hypertension of the newborn: a case report and literature review. ( 30176827 )
2018
20
Implementation of a Quality Control System for Laparoscopic Pyloromyotomy in Hypertrophic Pyloric Stenosis: Hurdles and Pitfalls. ( 30086575 )
2018
21
Case of hepatic portal venous gas in an infant with hypertrophic pyloric stenosis. ( 29980514 )
2018
22
Adult idiopathic hypertrophic pyloric stenosis - a common presentation with an uncommon diagnosis. ( 29686790 )
2018
23
Perioperative Complications of Surgery for Hypertrophic Pyloric Stenosis. ( 29510427 )
2018
24
Postoperative outcomes of open versus laparoscopic pyloromyotomy for hypertrophic pyloric stenosis. ( 29506847 )
2018
25
Laparoscopic pyloromyotomy for hypertrophic pyloric stenosis: a survey of 407 children. ( 29411105 )
2018
26
Infantile hypertrophic pyloric stenosis: a 4-year experience from two tertiary care centres in Cameroon. ( 29338765 )
2018
27
Transient neonatal myasthenia gravis with infantile hypertrophic pyloric stenosis: coincidence or causation? ( 29099348 )
2018
28
Health disparities in infants with hypertrophic pyloric stenosis. ( 27586849 )
2017
29
Adult-Onset Idiopathic Hypertrophic Pyloric Stenosis Associated With Osteoglophonic Dysplasia and HIV: Case Report and Review of Literature. ( 27599310 )
2017
30
A randomized trial to assess advancement of enteral feedings following surgery for hypertrophic pyloric stenosis. ( 27829521 )
2017
31
A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24. ( 27855150 )
2017
32
Corrected to uncorrected? The metabolic conundrum of hypertrophic pyloric stenosis. ( 28189444 )
2017
33
Excessive Bright Echoes Sign for Hypertrophic Pyloric Stenosis Suggest the Diagnosis: Gastric Pneumatosis and Portal Venous Gas in Infants Suggest HPS. ( 28295432 )
2017
34
Perinatal risk factors for infantile hypertrophic pyloric stenosis: A meta-analysis. ( 28318599 )
2017
35
Does metabolic alkalosis influence cerebral oxygenation in infantile hypertrophic pyloric stenosis? ( 28550912 )
2017
36
50 Years Ago in The Journal of Pediatrics: The Radiographic Diagnosis of Congenital Hypertrophic Pyloric Stenosis. ( 28648281 )
2017
37
Caterpillar Sign in Infantile Hypertrophic Pyloric Stenosis. ( 29236645 )
2017
38
Application of color Doppler ultrasound combined with Doppler imaging artifacts in the diagnosis and estimate of congenital hypertrophic pyloric stenosis. ( 28842652 )
2017
39
A Difficult Recurrent Hypertrophic Pyloric Stenosis. ( 28770145 )
2017
40
Treating idiopathic hypertrophic pyloric stenosis with sequential therapy: A clinical study. ( 27439633 )
2016
41
Late-onset hypertrophic pyloric stenosis with gastric outlet obstruction: case report and review of the literature. ( 27506212 )
2016
42
Operative outcomes of infantile hypertrophic pyloric stenosis in patients with congenital heart disease. ( 27528563 )
2016
43
Infantile hypertrophic pyloric stenosis with unusual presentations in Sagamu, Nigeria: a case report and review of the literature. ( 27642452 )
2016
44
Post-natal erythromycin exposure and risk of infantile hypertrophic pyloric stenosis: a systematic review and meta-analysis. ( 27655365 )
2016
45
Hypertrophic pyloric stenosis in the Maritimes: examining the waves of change over time. ( 27669400 )
2016
46
Successful combination of endoscopic pyloromyotomy and balloon dilatation for hypertrophic pyloric stenosis in an older child: A novel procedure. ( 27915443 )
2016
47
PRIMARY HYPERTROPHIC PYLORIC STENOSIS IN ADULTS. ( 29889385 )
2016
48
[Hypertrophic Pyloric Stenosis - Five-Year Retrospective Analysis]. ( 28722837 )
2016
49
Adult idiopathic hypertrophic pyloric stenosis. ( 27362602 )
2016
50
The cervix sign and other sonographic signs of hypertrophic pyloric stenosis. ( 27315074 )
2016

Variations for Hypertrophic Pyloric Stenosis

Expression for Hypertrophic Pyloric Stenosis

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

Pathways for Hypertrophic Pyloric Stenosis

Pathways related to Hypertrophic Pyloric Stenosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.89 DMD NKX2-5 NOS1
2 11.46 NOS1 NTRK3 RET TRPC6
3 10.55 TRPC5 TRPC6
4 10.23 DMD NOS1

GO Terms for Hypertrophic Pyloric Stenosis

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

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.46 DMD RET SST TRPC5
2 cation channel complex GO:0034703 8.96 TRPC5 TRPC6
3 membrane raft GO:0045121 8.92 DMD NOS1 RET TRPC5

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.8 FOXF1 NKX2-5 NOS1 RET
2 positive regulation of cell proliferation GO:0008284 9.76 DMD NKX2-5 NTRK3 TRPC5
3 nervous system development GO:0007399 9.73 MBNL1 NTRK3 RET TRPC5
4 heart development GO:0007507 9.71 FOXF1 NKX2-5 NTRK3
5 positive regulation of cell migration GO:0030335 9.69 FOXF1 NTRK3 RET
6 response to heat GO:0009408 9.57 NOS1 SST
7 cardiac muscle contraction GO:0060048 9.56 DMD NKX2-5
8 regulation of cytosolic calcium ion concentration GO:0051480 9.55 TRPC5 TRPC6
9 regulation of cardiac conduction GO:1903779 9.52 NKX2-5 NOS1
10 positive regulation of neuron projection development GO:0010976 9.5 DMD NTRK3 RET
11 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.48 TRPC5 TRPC6
12 regulation of cardiac muscle contraction GO:0055117 9.4 NKX2-5 NOS1
13 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.37 DMD NOS1
14 manganese ion transport GO:0006828 9.26 TRPC5 TRPC6
15 neuron differentiation GO:0030182 9.26 DMD RET TRPC5 TRPC6
16 negative regulation of dendrite morphogenesis GO:0050774 9.16 TRPC5 TRPC6
17 positive regulation of neuron differentiation GO:0045666 8.92 DMD NKX2-5 TRPC5 TRPC6

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

# Name GO ID Score Top Affiliating Genes
1 clathrin binding GO:0030276 9.26 TRPC5 TRPC6
2 inositol 1,4,5 trisphosphate binding GO:0070679 9.16 TRPC5 TRPC6
3 actinin binding GO:0042805 8.96 TRPC5 TRPC6
4 store-operated calcium channel activity GO:0015279 8.62 TRPC5 TRPC6

Sources for Hypertrophic Pyloric Stenosis

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