IHPS5
MCID: PYL011
MIFTS: 12

Pyloric Stenosis, Infantile Hypertrophic, 5 (IHPS5)

Categories: Gastrointestinal diseases

Aliases & Classifications for Pyloric Stenosis, Infantile Hypertrophic, 5

MalaCards integrated aliases for Pyloric Stenosis, Infantile Hypertrophic, 5:

Name: Pyloric Stenosis, Infantile Hypertrophic, 5 57 13 6 70
Ihps5 57

Classifications:



External Ids:

OMIM® 57 612525
OMIM Phenotypic Series 57 PS179010
UMLS 70 C2675862

Summaries for Pyloric Stenosis, Infantile Hypertrophic, 5

MalaCards based summary : Pyloric Stenosis, Infantile Hypertrophic, 5, also known as ihps5, is related to pyloric stenosis, infantile hypertrophic, 1 and hypertrophic pyloric stenosis. An important gene associated with Pyloric Stenosis, Infantile Hypertrophic, 5 is IHPS5 (Pyloric Stenosis, Infantile Hypertrophic, 5).

More information from OMIM: 612525 PS179010

Related Diseases for Pyloric Stenosis, Infantile Hypertrophic, 5

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, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pyloric stenosis, infantile hypertrophic, 1 9.9
2 hypertrophic pyloric stenosis 9.9
3 pyloric stenosis 9.9

Symptoms & Phenotypes for Pyloric Stenosis, Infantile Hypertrophic, 5

Clinical features from OMIM®:

612525 (Updated 05-Apr-2021)

Drugs & Therapeutics for Pyloric Stenosis, Infantile Hypertrophic, 5

Search Clinical Trials , NIH Clinical Center for Pyloric Stenosis, Infantile Hypertrophic, 5

Genetic Tests for Pyloric Stenosis, Infantile Hypertrophic, 5

Anatomical Context for Pyloric Stenosis, Infantile Hypertrophic, 5

Publications for Pyloric Stenosis, Infantile Hypertrophic, 5

Articles related to Pyloric Stenosis, Infantile Hypertrophic, 5:

# Title Authors PMID Year
1
Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24. 57
18478043 2008
2
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. 61
27855150 2017

Variations for Pyloric Stenosis, Infantile Hypertrophic, 5

ClinVar genetic disease variations for Pyloric Stenosis, Infantile Hypertrophic, 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXF1 NM_001451.3(FOXF1):c.416G>A (p.Arg139Gln) SNV Likely pathogenic 132838 rs672601295 GRCh37: 16:86544591-86544591
GRCh38: 16:86510985-86510985

Expression for Pyloric Stenosis, Infantile Hypertrophic, 5

Search GEO for disease gene expression data for Pyloric Stenosis, Infantile Hypertrophic, 5.

Pathways for Pyloric Stenosis, Infantile Hypertrophic, 5

GO Terms for Pyloric Stenosis, Infantile Hypertrophic, 5

Sources for Pyloric Stenosis, Infantile Hypertrophic, 5

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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