MCID: PYL018
MIFTS: 21

Pyloric Stenosis, Infantile Hypertrophic, 1

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 73
Pyloric Stenosis, Infantile 57 55
Pyloric Stenosis, Infantile Hypertrophic; Ihps 57
Pyloric Stenosis, Infantile Hypertrophic 57
Ihps1 57
Ihps 57

Characteristics:

OMIM:

57
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:

32
pyloric stenosis, infantile hypertrophic, 1:
Inheritance autosomal dominant inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM 57 179010
MedGen 42 C1867403
UMLS 73 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)

MalaCards based summary : Pyloric Stenosis, Infantile Hypertrophic, 1, also known as pyloric stenosis, infantile hypertrophic 1, is related to pyloric stenosis, infantile hypertrophic, 5 and pyloric stenosis, infantile hypertrophic, 4. An important gene associated with Pyloric Stenosis, Infantile Hypertrophic, 1 is NOS1 (Nitric Oxide Synthase 1). The drug Vaccines has been mentioned in the context of this disorder. 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:

# Related Disease Score Top Affiliating Genes
1 pyloric stenosis, infantile hypertrophic, 5 12.3
2 pyloric stenosis, infantile hypertrophic, 4 12.2
3 pyloric stenosis, infantile hypertrophic, 2 12.2
4 pyloric stenosis, infantile hypertrophic, 3 12.2
5 idiopathic hypertrophic pachymeningitis 11.4
6 pyloric stenosis 10.7
7 hypertrophic pyloric stenosis 10.6

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

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Metabolic Features:
hypochloremic metabolic alkalosis

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


Clinical features from OMIM:

179010

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

32
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 pyloric stenosis 32 HP:0002021
3 projectile vomiting 32 HP:0002587
4 hypochloremic metabolic alkalosis 32 HP:0005977

Drugs & Therapeutics for Pyloric Stenosis, Infantile Hypertrophic, 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Immunogenicity Study of a H5N1 Influenza Vaccine (Vero Cell-Derived, Whole Virus) in Healthy Infants, Children and Adolescents Completed NCT01052402 Phase 1, Phase 2

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

Publications for Pyloric Stenosis, Infantile Hypertrophic, 1

Variations for Pyloric Stenosis, Infantile Hypertrophic, 1

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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