Trait
Pyloric stenosis
Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.
Summary
- Also called
- Infantile hypertrophic pyloric stenosis, Pylorus stenosis
- Body system
- Abnormality of the digestive system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Pyloric stenosis, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test115 genes linked to Pyloric stenosis
Changes in these genes cause rare conditions in which Pyloric stenosis is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| DHCR77-dehydrocholesterol reductase | Always | In 2 conditions |
| FGF4fibroblast growth factor 4 | Always | In 1 condition |
| GTF2H5general transcription factor IIH subunit 5 | Always | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Always | In 1 condition |
| PYCR1pyrroline-5-carboxylate reductase 1 | Always | In 1 condition |
| SERPINH1serpin family H member 1 | Always | In 1 condition |
| ARF1ARF GTPase 1 | Very often (80–99%) | In 1 condition |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Very often (80–99%) | In 1 condition |
| CYBAcytochrome b-245 alpha chain | Very often (80–99%) | In 1 condition |
| CYBBcytochrome b-245 beta chain | Very often (80–99%) | In 1 condition |
| CYBC1cytochrome b-245 chaperone 1 | Very often (80–99%) | In 1 condition |
| ERMARDER membrane associated RNA degradation | Very often (80–99%) | In 1 condition |
| FLNAfilamin A | Very often (80–99%) | In 2 conditions |
| MAP1Bmicrotubule associated protein 1B | Very often (80–99%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Very often (80–99%) | In 1 condition |
| NCF2neutrophil cytosolic factor 2 | Very often (80–99%) | In 1 condition |
| NCF4neutrophil cytosolic factor 4 | Very often (80–99%) | In 1 condition |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Very often (80–99%) | In 1 condition |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Very often (80–99%) | In 1 condition |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Often (30–79%) | In 1 condition |
| LRRC7leucine rich repeat containing 7 | Often (30–79%) | In 1 condition |
| LTBP4latent transforming growth factor beta binding protein 4 | Often (30–79%) | In 1 condition |
| MED12mediator complex subunit 12 | Often (30–79%) | In 2 conditions |
| NEK9NIMA related kinase 9 | Often (30–79%) | In 1 condition |
| PAK2p21 (RAC1) activated kinase 2 | Often (30–79%) | In 2 conditions |
| PEX1peroxisomal biogenesis factor 1 | Often (30–79%) | In 1 condition |
| PEX10peroxisomal biogenesis factor 10 | Often (30–79%) | In 1 condition |
| PEX11Bperoxisomal biogenesis factor 11 beta | Often (30–79%) | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Often (30–79%) | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Often (30–79%) | In 1 condition |
| PEX14peroxisomal biogenesis factor 14 | Often (30–79%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Often (30–79%) | In 1 condition |
| PEX19peroxisomal biogenesis factor 19 | Often (30–79%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Often (30–79%) | In 1 condition |
| PEX26peroxisomal biogenesis factor 26 | Often (30–79%) | In 1 condition |
| PEX3peroxisomal biogenesis factor 3 | Often (30–79%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Often (30–79%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Often (30–79%) | In 1 condition |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Sometimes (5–29%) | In 1 condition |
| BCRBCR activator of RhoGEF and GTPase | Sometimes (5–29%) | In 1 condition |
Show 75 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| BIN1bridging integrator 1 | Sometimes (5–29%) | In 1 condition |
| BRD4bromodomain containing 4 | Sometimes (5–29%) | In 1 condition |
| CASZ1castor zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| CCBE1collagen and calcium binding EGF domains 1 | Sometimes (5–29%) | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Sometimes (5–29%) | In 1 condition |
| COL18A1collagen type XVIII alpha 1 chain | Sometimes (5–29%) | In 2 conditions |
| CRKLCRK like proto-oncogene, adaptor protein | Sometimes (5–29%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| DNM2dynamin 2 | Sometimes (5–29%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sometimes (5–29%) | In 1 condition |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Sometimes (5–29%) | In 1 condition |
| FAT4FAT atypical cadherin 4 | Sometimes (5–29%) | In 1 condition |
| FBLN5fibulin 5 | Sometimes (5–29%) | In 1 condition |
| FEM1Bfem-1 homolog B | Sometimes (5–29%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sometimes (5–29%) | In 2 conditions |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Sometimes (5–29%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Sometimes (5–29%) | In 1 condition |
| GALEUDP-galactose-4-epimerase | Sometimes (5–29%) | In 1 condition |
| HDAC4histone deacetylase 4 | Sometimes (5–29%) | In 1 condition |
| HDAC8histone deacetylase 8 | Sometimes (5–29%) | In 1 condition |
| HNF1BHNF1 homeobox B | Sometimes (5–29%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Sometimes (5–29%) | In 1 condition |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Sometimes (5–29%) | In 1 condition |
| LTBP1latent transforming growth factor beta binding protein 1 | Sometimes (5–29%) | In 1 condition |
| LUZP1leucine zipper protein 1 | Sometimes (5–29%) | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Sometimes (5–29%) | In 1 condition |
| MAPK1mitogen-activated protein kinase 1 | Sometimes (5–29%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 1 condition |
| MEG3maternally expressed 3 | Sometimes (5–29%) | In 1 condition |
| MMP23Bmatrix metallopeptidase 23B | Sometimes (5–29%) | In 1 condition |
| MTMR14myotubularin related protein 14 | Sometimes (5–29%) | In 1 condition |
| MYF6myogenic factor 6 | Sometimes (5–29%) | In 1 condition |
| NFIXnuclear factor I X | Sometimes (5–29%) | In 1 condition |
| NFKB2nuclear factor kappa B subunit 2 | Sometimes (5–29%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Sometimes (5–29%) | In 2 conditions |
| PDPNpodoplanin | Sometimes (5–29%) | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Sometimes (5–29%) | In 2 conditions |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Sometimes (5–29%) | In 1 condition |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Sometimes (5–29%) | In 2 conditions |
| PRDM16PR/SET domain 16 | Sometimes (5–29%) | In 1 condition |
| PRKCZprotein kinase C zeta | Sometimes (5–29%) | In 1 condition |
| RAD21RAD21 cohesin complex component | Sometimes (5–29%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Sometimes (5–29%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Sometimes (5–29%) | In 1 condition |
| RYR1ryanodine receptor 1 | Sometimes (5–29%) | In 1 condition |
| SKISKI proto-oncogene | Sometimes (5–29%) | In 1 condition |
| SLC2A10solute carrier family 2 member 10 | Sometimes (5–29%) | In 1 condition |
| SLC6A1solute carrier family 6 member 1 | Sometimes (5–29%) | In 1 condition |
| SLC6A11solute carrier family 6 member 11 | Sometimes (5–29%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Sometimes (5–29%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Sometimes (5–29%) | In 1 condition |
| SPENspen family transcriptional repressor | Sometimes (5–29%) | In 1 condition |
| SYT2synaptotagmin 2 | Sometimes (5–29%) | In 1 condition |
| TBX3T-box transcription factor 3 | Sometimes (5–29%) | In 2 conditions |
| UBE4Bubiquitination factor E4B | Sometimes (5–29%) | In 1 condition |
| VAC14VAC14 component of PIKFYVE complex | Sometimes (5–29%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Sometimes (5–29%) | In 3 conditions |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| ZNF699zinc finger protein 699 | Sometimes (5–29%) | In 1 condition |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Rarely (1–4%) | In 1 condition |
| SH2B1SH2B adaptor protein 1 | Rarely (1–4%) | In 1 condition |
| BCORBCL6 corepressor | Not recorded | In 1 condition |
| CAVIN1caveolae associated protein 1 | Not recorded | In 1 condition |
| DHODHdihydroorotate dehydrogenase (quinone) | Not recorded | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Not recorded | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Not recorded | In 1 condition |
| LAMA3laminin subunit alpha 3 | Not recorded | In 1 condition |
| LAMB3laminin subunit beta 3 | Not recorded | In 1 condition |
| LAMC2laminin subunit gamma 2 | Not recorded | In 1 condition |
| MTM1myotubularin 1 | Not recorded | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Not recorded | In 1 condition |
| NEFHneurofilament heavy chain | Not recorded | In 1 condition |
| NPHS1NPHS1 adhesion molecule, nephrin | Not recorded | In 1 condition |
| TFAP2Atranscription factor AP-2 alpha | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks