MCID: PYL011
MIFTS: 10

Pyloric Stenosis, Infantile Hypertrophic, 5

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 73
Ihps5 57

Classifications:



External Ids:

OMIM 57 612525
UMLS 73 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 pyloric stenosis. An important gene associated with Pyloric Stenosis, Infantile Hypertrophic, 5 is IHPS5 (Pyloric Stenosis, Infantile Hypertrophic, 5).

Description from OMIM: 612525

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 10.9
2 pyloric stenosis 9.9
3 hypertrophic pyloric stenosis 9.9

Symptoms & Phenotypes for Pyloric Stenosis, Infantile Hypertrophic, 5

Clinical features from OMIM:

612525

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

Variations for Pyloric Stenosis, Infantile Hypertrophic, 5

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXF1 NM_001451.2(FOXF1): c.416G> A (p.Arg139Gln) single nucleotide variant Likely pathogenic rs672601295 GRCh38 Chromosome 16, 86510985: 86510985
2 FOXF1 NM_001451.2(FOXF1): c.416G> A (p.Arg139Gln) single nucleotide variant Likely pathogenic rs672601295 GRCh37 Chromosome 16, 86544591: 86544591

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 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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