IHPS1
MCID: PYL018
MIFTS: 35

Pyloric Stenosis, Infantile Hypertrophic, 1 (IHPS1)

Categories: Gastrointestinal diseases

Aliases & Classifications for Pyloric Stenosis, Infantile Hypertrophic, 1

MalaCards integrated aliases for Pyloric Stenosis, Infantile Hypertrophic, 1:

Name: Pyloric Stenosis, Infantile Hypertrophic, 1 57
Pyloric Stenosis, Infantile Hypertrophic 1 57 13 6 70
Pyloric Stenosis, Infantile 57 54
Pyloric Stenosis, Infantile Hypertrophic; Ihps 57
Pyloric Stenosis, Infantile Hypertrophic 57
Infantile Hypertrophic Pyloric Stenosis 17
Ihps1 57
Ihps 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant
multifactorial

Miscellaneous:
most common form of bowel obstruction in infancy
sex ratio of 4-4.5 males to 1 female
incidence 8/1,000 newborns
onset of symptoms 2-4 weeks of age


HPO:

31
pyloric stenosis, infantile hypertrophic, 1:
Inheritance autosomal dominant inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM® 57 179010
OMIM Phenotypic Series 57 PS179010
MedGen 41 C1867403
UMLS 70 C1867403

Summaries for Pyloric Stenosis, Infantile Hypertrophic, 1

OMIM® : 57 Infantile pyloric stenosis is the most common condition requiring surgical intervention in the first year of life. It typically presents in infants 2 to 6 weeks after birth. Clinically the disorder is characterized by projectile vomiting, visible gastric peristalsis, and a palpable pyloric tumor (summary by Everett et al., 2008). Mortality was high until successful treatment by pyloromyotomy was developed by Ramstedt (1912). (179010) (Updated 05-Apr-2021)

MalaCards based summary : Pyloric Stenosis, Infantile Hypertrophic, 1, also known as pyloric stenosis, infantile hypertrophic 1, is related to pyloric stenosis and pyloric stenosis, infantile hypertrophic, 5. An important gene associated with Pyloric Stenosis, Infantile Hypertrophic, 1 is NOS1 (Nitric Oxide Synthase 1). The drugs Melphalan and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and smooth muscle, and related phenotypes are failure to thrive and pyloric stenosis

Related Diseases for Pyloric Stenosis, Infantile Hypertrophic, 1

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 Pyloric Stenosis, Infantile Hypertrophic, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 pyloric stenosis 30.2 NOS1 LOC111258526
2 pyloric stenosis, infantile hypertrophic, 5 11.6
3 pyloric stenosis, infantile hypertrophic, 4 11.5
4 pyloric stenosis, infantile hypertrophic, 2 11.5
5 pyloric stenosis, infantile hypertrophic, 3 11.5
6 muscle hypertrophy 10.6
7 esophageal atresia 10.5
8 pylorospasm 10.4
9 hypertrophic pyloric stenosis 10.4
10 gastroesophageal reflux 10.4
11 tracheoesophageal fistula with or without esophageal atresia 10.4
12 sudden infant death syndrome 10.4
13 pertussis 10.4
14 gastritis 10.4
15 volvulus of midgut 10.3
16 phenylketonuria 10.3
17 insulin-like growth factor i 10.3
18 hypokalemia 10.3
19 diaphragmatic hernia, congenital 10.1
20 neural tube defects 10.1
21 vesicoureteral reflux 1 10.1
22 charge syndrome 10.1
23 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
24 cystic fibrosis 10.1
25 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
26 myasthenia gravis 10.1
27 smith-lemli-opitz syndrome 10.1
28 opitz gbbb syndrome, type i 10.1
29 helicobacter pylori infection 10.1
30 metabolic acidosis 10.1
31 inguinal hernia 10.1
32 intestinal pseudo-obstruction 10.1
33 urinary tract infection 10.1
34 hydronephrosis 10.1
35 heart disease 10.1
36 esophagitis 10.1
37 neonatal myasthenia gravis 10.1
38 intestinal perforation 10.1
39 gastroenteritis 10.1
40 adenomyoma 10.1
41 gastric dilatation 10.1
42 eosinophilic gastritis 10.1
43 myopathy 10.1
44 conjunctivitis 10.1
45 situs inversus 10.1
46 hyperthyroidism 10.1
47 ileus 10.1
48 paralytic ileus 10.1
49 neuropathy 10.1
50 achalasia 10.1

Graphical network of the top 20 diseases related to Pyloric Stenosis, Infantile Hypertrophic, 1:



Diseases related to Pyloric Stenosis, Infantile Hypertrophic, 1

Symptoms & Phenotypes for Pyloric Stenosis, Infantile Hypertrophic, 1

Human phenotypes related to Pyloric Stenosis, Infantile Hypertrophic, 1:

31
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 pyloric stenosis 31 HP:0002021
3 projectile vomiting 31 HP:0002587
4 hypochloremic metabolic alkalosis 31 HP:0005977

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
infantile pyloric stenosis
nonbilious projectile vomiting
palpable pyloric "olive"
visible gastric peristalsis

Metabolic Features:
hypochloremic metabolic alkalosis

Clinical features from OMIM®:

179010 (Updated 05-Apr-2021)

Drugs & Therapeutics for Pyloric Stenosis, Infantile Hypertrophic, 1

Drugs for Pyloric Stenosis, Infantile Hypertrophic, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Melphalan Approved Phase 2 148-82-3 4053 460612
2
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
3
Fluorouracil Approved Phase 2 51-21-8 3385
4
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 43805 6857599
5
leucovorin Approved Phase 2 58-05-9 6006
6
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
7
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
8 Vitamin B9 Phase 2
9 Nutrients Phase 2
10 Cola Phase 2
11 Micronutrients Phase 2
12 Trace Elements Phase 2
13 Alkylating Agents Phase 2
14 Liver Extracts Phase 2
15 Vitamin B Complex Phase 2
16 Immunosuppressive Agents Phase 2
17 Vitamins Phase 2
18 Antidotes Phase 2
19 Folate Phase 2
20 Immunologic Factors Phase 2
21 Antimetabolites Phase 2
22 Hormones Phase 2
23 Calcium, Dietary Phase 2
24 Protective Agents Phase 2
25
Calcium Nutraceutical Phase 2 7440-70-2 271
26 Hemostatics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Trial of Isolated Hepatic Perfusion (IHP) and Systemic FOLFOX4 for Subjects With Metastatic Unresectable Colorectal Cancers of the Liver With ≥ 40% Hepatic Tumor Burden Completed NCT00103298 Phase 2 FOLFOX regimen;fluorouracil;isolated perfusion;leucovorin calcium;melphalan;oxaliplatin
2 A Phase II Study of Isolated Hepatic Perfusion (IHP) With Melphalan for Metastatic Unresectable Cancers of the Liver Completed NCT00019786 Phase 2 isolated perfusion;melphalan
3 A Phase II Trial Of Isolated Hepatic Perfusion (IHP) With Melphalan For Subjects With Metastatic Unresectable Colorectal Cancers Of The Liver With Disease Refractory To First Line Systemic Chemotherapy Completed NCT00089401 Phase 2 isolated perfusion;melphalan
4 A Phase II Study of Isolated Hepatic Perfusion (IHP) With Melphalan Followed by Temozolomide for Subjects With Unresectable Hepatic Metastases From Ocular Melanoma Completed NCT00062933 Phase 2
5 A Phase I Study of Isolated Hepatic Portal and Arterial Perfusion (IHP) With Escalating Dose Melphalan for Primary or Metastatic Unresectable Cancers of the Liver Completed NCT00001587 Phase 1 Melphalan
6 Per-oral Pyloromyotomy for Treating Infantile Hypertrophic Pyloric Stenosis Recruiting NCT04148040

Search NIH Clinical Center for Pyloric Stenosis, Infantile Hypertrophic, 1

Genetic Tests for Pyloric Stenosis, Infantile Hypertrophic, 1

Anatomical Context for Pyloric Stenosis, Infantile Hypertrophic, 1

MalaCards organs/tissues related to Pyloric Stenosis, Infantile Hypertrophic, 1:

40
Liver, Heart, Smooth Muscle, Brain, Pancreas, Breast, Endothelial

Publications for Pyloric Stenosis, Infantile Hypertrophic, 1

Articles related to Pyloric Stenosis, Infantile Hypertrophic, 1:

(show top 50) (show all 510)
# Title Authors PMID Year
1
No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis. 61 57
19851341 2009
2
Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23. 57 61
18308288 2008
3
Single-nucleotide promoter polymorphism alters transcription of neuronal nitric oxide synthase exon 1c in infantile hypertrophic pyloric stenosis. 61 57
14757827 2004
4
Neuronal nitric oxide synthase, nNOS, is not linked to infantile hypertrophic pyloric stenosis in three families. 61 57
9660065 1998
5
Genetic evidence for the neuronal nitric oxide synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis. 54 57
8571963 1996
6
The genetics of infantile hypertrophic pyloric stenosis. A reanalysis. 57 61
8237916 1993
7
Nitric oxide synthase activity in infantile hypertrophic pyloric stenosis. 57 61
1378938 1992
8
Infantile hypertrophic pyloric stenosis--unusual familial incidence. 57 61
518115 1979
9
Infantile hypertrophic pyloric stenosis in Belfast, 1957-1969. 61 57
1170811 1975
10
Familial aggregation and heritability of pyloric stenosis. 57
20551410 2010
11
Targeted disruption of the neuronal nitric oxide synthase gene. 57
7505721 1993
12
Linkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33: no evidence for a major gene in this candidate region. 57
8320701 1993
13
Duplication of part of 9q due to maternal 12;9 inverted insertion associated with pyloric stenosis. 57
2852899 1988
14
Probable autosomal dominant infantile pyloric stenosis in a large kindred. 57
7333028 1981
15
Recurrence risks in complex inheritance with special regard to pyloric stenosis. 57
604490 1977
16
Inheritance of congenital pyloric stenosis. 57
5345095 1969
17
The inheritance of congenital pyloric stenosis. 57
13691133 1961
18
Two-generation pyloric stenosis. 57
13153103 1954
19
Epidural versus general anesthesia for open pyloromyotomy in infants: A retrospective observational study. 61
33368903 2021
20
Prolonged neuromuscular block after rocuronium administration in laparoscopic pyloromyotomy patients: A retrospective bayesian regression analysis. 61
33382505 2021
21
Open versus laparoscopic pyloromyotomy for pyloric stenosis. 61
33686649 2021
22
Macrolides for the prevention and treatment of feeding intolerance in preterm low birth weight infants: a systematic review and meta-analysis. 61
33044576 2021
23
Protocol: A systematic review and meta-analysis of the role of fetal and infantile environmental exposure in etiopathogenesis of infantile hypertrophic pyloric stenosis. 61
33592043 2021
24
Integrating genetics with newborn metabolomics in infantile hypertrophic pyloric stenosis. 61
33417075 2021
25
The incidence of infantile hypertrophic pyloric stenosis nearly halved from 2005 to 2017: analysis of German administrative data. 61
33469698 2021
26
Respiratory problems owing to severe metabolic alkalosis in infants presenting with hypertrophic pyloric stenosis. 61
32641249 2020
27
A Delphi Analysis to Reach Consensus on Preoperative Care in Infants with Hypertrophic Pyloric Stenosis. 61
31958865 2020
28
Guidelines of the Italian Society of Videosurgery (SIVI) in Infancy for the minimally invasive treatment of Hypertrophic Pyloric Stenosis in neonates and infants. 61
33140632 2020
29
Nitrite in breast milk: roles in neonatal pathophysiology. 61
33173179 2020
30
The Dutch Incidence of Infantile Hypertrophic Pyloric Stenosis and the Influence of Seasons. 61
33171518 2020
31
Flickering sign on superb microvascular imaging in patients with infantile hypertrophic pyloric stenosis. 61
32734429 2020
32
Laparoscopic hybrid pyloromyotomy for infantile hypertrophic pyloric stenosis: A simplified technique. 61
31670292 2020
33
Perioperative apnea in infants with hypertrophic pyloric stenosis: A systematic review. 61
32298502 2020
34
Does Maternal Omega 3 Supplementation Protect Against Infantile Hypertrophic Pyloric Stenosis? 61
31990865 2020
35
Infantile hypertrophic pyloric stenosis in patients with esophageal atresia. 61
32298054 2020
36
Temporal caterpillar sign in a case of infantile hypertrophic pyloric stenosis. 61
32463578 2020
37
Peroral pyloromyotomy for the treatment of infantile hypertrophic pyloric stenosis. 61
31652470 2020
38
General surgery of childhood in the UK: a general surgeon's perspective. 61
31757504 2020
39
Our Experience with Laparoscopic Pyloromyotomy in Patients with Infantile Hypertrophic Pyloric Stenosis. 61
33312032 2020
40
Laparoscopic vs. Open Pyloromyotomy in Treatment of Infantile Hypertrophic Pyloric Stenosis. 61
32984197 2020
41
Pyloric Stenosis: National Trends in the Incidence Rate and Resource Use in the United States From 2012 to 2016. 61
31748239 2019
42
Risk factors for unsuccessful atropine therapy in hypertrophic pyloric stenosis. 61
31520503 2019
43
Retrospective Cohort Study on the Optimal Timing of Orogastric Tube/Nasogastric Tube Insertion in Infants With Pyloric Stenosis. 61
30234537 2019
44
Neonatal azithromycin administration to prevent infant mortality: study protocol for a randomised controlled trial. 61
31488494 2019
45
The spectrum of self inflicted injuries managed at a major trauma centre in South Africa. 61
31342690 2019
46
Infantile hypertrophic pyloric stenosis: profile, management and outcome of patients admitted to a tertiary hospital in Bloemfontein, South Africa. 61
31342689 2019
47
Co-occurrence of infantile hypertrophic pyloric stenosis and congenital heart defects: a nationwide cohort study. 61
30862960 2019
48
The incidence of infantile hypertrophic pyloric stenosis and its association with folic acid supplementation during pregnancy: A nested case-control study. 61
29884554 2019
49
Developmental outcome at 3 years of age of infants following surgery for infantile hypertrophic pyloric stenosis. 61
30402682 2019
50
Association between exposure to macrolides and the development of infantile hypertrophic pyloric stenosis: a systematic review and meta-analysis. 61
30470884 2019

Variations for Pyloric Stenosis, Infantile Hypertrophic, 1

ClinVar genetic disease variations for Pyloric Stenosis, Infantile Hypertrophic, 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NOS1 , LOC111258526 NC_000012.11:g.117877485C>T SNV Uncertain significance 14012 rs41279104 GRCh37: 12:117877485-117877485
GRCh38: 12:117439680-117439680

Expression for Pyloric Stenosis, Infantile Hypertrophic, 1

Search GEO for disease gene expression data for Pyloric Stenosis, Infantile Hypertrophic, 1.

Pathways for Pyloric Stenosis, Infantile Hypertrophic, 1

GO Terms for Pyloric Stenosis, Infantile Hypertrophic, 1

Sources for Pyloric Stenosis, Infantile Hypertrophic, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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