Požymis
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.
Santrauka
- Taip pat vadinama
- Infantile hypertrophic pyloric stenosis, Pylorus stenosis
- Kūno sistema
- Abnormality of the digestive system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Pyloric stenosis, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test115 genų susiję su Pyloric stenosis
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Pyloric stenosis. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| DHCR77-dehydrocholesterol reductase | Visada | 2 ligose |
| FGF4fibroblast growth factor 4 | Visada | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | Visada | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Visada | 1 ligoje |
| PYCR1pyrroline-5-carboxylate reductase 1 | Visada | 1 ligoje |
| SERPINH1serpin family H member 1 | Visada | 1 ligoje |
| ARF1ARF GTPase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| CYBAcytochrome b-245 alpha chain | Labai dažnai (80–99%) | 1 ligoje |
| CYBBcytochrome b-245 beta chain | Labai dažnai (80–99%) | 1 ligoje |
| CYBC1cytochrome b-245 chaperone 1 | Labai dažnai (80–99%) | 1 ligoje |
| ERMARDER membrane associated RNA degradation | Labai dažnai (80–99%) | 1 ligoje |
| FLNAfilamin A | Labai dažnai (80–99%) | 2 ligose |
| MAP1Bmicrotubule associated protein 1B | Labai dažnai (80–99%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| NCF2neutrophil cytosolic factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| NCF4neutrophil cytosolic factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Labai dažnai (80–99%) | 1 ligoje |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Labai dažnai (80–99%) | 1 ligoje |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Dažnai (30–79%) | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Dažnai (30–79%) | 1 ligoje |
| LTBP4latent transforming growth factor beta binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 2 ligose |
| NEK9NIMA related kinase 9 | Dažnai (30–79%) | 1 ligoje |
| PAK2p21 (RAC1) activated kinase 2 | Dažnai (30–79%) | 2 ligose |
| PEX1peroxisomal biogenesis factor 1 | Dažnai (30–79%) | 1 ligoje |
| PEX10peroxisomal biogenesis factor 10 | Dažnai (30–79%) | 1 ligoje |
| PEX11Bperoxisomal biogenesis factor 11 beta | Dažnai (30–79%) | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Dažnai (30–79%) | 1 ligoje |
| PEX13peroxisomal biogenesis factor 13 | Dažnai (30–79%) | 1 ligoje |
| PEX14peroxisomal biogenesis factor 14 | Dažnai (30–79%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Dažnai (30–79%) | 1 ligoje |
| PEX19peroxisomal biogenesis factor 19 | Dažnai (30–79%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Dažnai (30–79%) | 1 ligoje |
| PEX26peroxisomal biogenesis factor 26 | Dažnai (30–79%) | 1 ligoje |
| PEX3peroxisomal biogenesis factor 3 | Dažnai (30–79%) | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Dažnai (30–79%) | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Dažnai (30–79%) | 1 ligoje |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Kartais (5–29%) | 1 ligoje |
| BCRBCR activator of RhoGEF and GTPase | Kartais (5–29%) | 1 ligoje |
Rodyti dar 75 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| BIN1bridging integrator 1 | Kartais (5–29%) | 1 ligoje |
| BRD4bromodomain containing 4 | Kartais (5–29%) | 1 ligoje |
| CASZ1castor zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Kartais (5–29%) | 1 ligoje |
| CHD8chromodomain helicase DNA binding protein 8 | Kartais (5–29%) | 1 ligoje |
| COL18A1collagen type XVIII alpha 1 chain | Kartais (5–29%) | 2 ligose |
| CRKLCRK like proto-oncogene, adaptor protein | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DNM2dynamin 2 | Kartais (5–29%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Kartais (5–29%) | 1 ligoje |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Kartais (5–29%) | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Kartais (5–29%) | 1 ligoje |
| FBLN5fibulin 5 | Kartais (5–29%) | 1 ligoje |
| FEM1Bfem-1 homolog B | Kartais (5–29%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Kartais (5–29%) | 2 ligose |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Kartais (5–29%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Kartais (5–29%) | 1 ligoje |
| GALEUDP-galactose-4-epimerase | Kartais (5–29%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Kartais (5–29%) | 1 ligoje |
| HDAC8histone deacetylase 8 | Kartais (5–29%) | 1 ligoje |
| HNF1BHNF1 homeobox B | Kartais (5–29%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 1 ligoje |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Kartais (5–29%) | 1 ligoje |
| LTBP1latent transforming growth factor beta binding protein 1 | Kartais (5–29%) | 1 ligoje |
| LUZP1leucine zipper protein 1 | Kartais (5–29%) | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Kartais (5–29%) | 1 ligoje |
| MAPK1mitogen-activated protein kinase 1 | Kartais (5–29%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| MMP23Bmatrix metallopeptidase 23B | Kartais (5–29%) | 1 ligoje |
| MTMR14myotubularin related protein 14 | Kartais (5–29%) | 1 ligoje |
| MYF6myogenic factor 6 | Kartais (5–29%) | 1 ligoje |
| NFIXnuclear factor I X | Kartais (5–29%) | 1 ligoje |
| NFKB2nuclear factor kappa B subunit 2 | Kartais (5–29%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Kartais (5–29%) | 2 ligose |
| PDPNpodoplanin | Kartais (5–29%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Kartais (5–29%) | 2 ligose |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Kartais (5–29%) | 1 ligoje |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Kartais (5–29%) | 2 ligose |
| PRDM16PR/SET domain 16 | Kartais (5–29%) | 1 ligoje |
| PRKCZprotein kinase C zeta | Kartais (5–29%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Kartais (5–29%) | 1 ligoje |
| SKISKI proto-oncogene | Kartais (5–29%) | 1 ligoje |
| SLC2A10solute carrier family 2 member 10 | Kartais (5–29%) | 1 ligoje |
| SLC6A1solute carrier family 6 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC6A11solute carrier family 6 member 11 | Kartais (5–29%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Kartais (5–29%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Kartais (5–29%) | 1 ligoje |
| SPENspen family transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| SYT2synaptotagmin 2 | Kartais (5–29%) | 1 ligoje |
| TBX3T-box transcription factor 3 | Kartais (5–29%) | 2 ligose |
| UBE4Bubiquitination factor E4B | Kartais (5–29%) | 1 ligoje |
| VAC14VAC14 component of PIKFYVE complex | Kartais (5–29%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Kartais (5–29%) | 3 ligose |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Retai (1–4 %) | 1 ligoje |
| SH2B1SH2B adaptor protein 1 | Retai (1–4 %) | 1 ligoje |
| BCORBCL6 corepressor | Neužfiksuota | 1 ligoje |
| CAVIN1caveolae associated protein 1 | Neužfiksuota | 1 ligoje |
| DHODHdihydroorotate dehydrogenase (quinone) | Neužfiksuota | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Neužfiksuota | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| LAMA3laminin subunit alpha 3 | Neužfiksuota | 1 ligoje |
| LAMB3laminin subunit beta 3 | Neužfiksuota | 1 ligoje |
| LAMC2laminin subunit gamma 2 | Neužfiksuota | 1 ligoje |
| MTM1myotubularin 1 | Neužfiksuota | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Neužfiksuota | 1 ligoje |
| NEFHneurofilament heavy chain | Neužfiksuota | 1 ligoje |
| NPHS1NPHS1 adhesion molecule, nephrin | Neužfiksuota | 1 ligoje |
| TFAP2Atranscription factor AP-2 alpha | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites