Požymis
Pigeon chest
Klinikinis pavadinimas: Pectus carinatum
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Santrauka
- Kūno sistema
- Abnormality of the musculoskeletal system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Pigeon chest, and the rest of your genome, with one test.
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Įsigyti savo Genome Test182 genų susiję su Pigeon chest
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Pigeon chest. 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 |
|---|---|---|
| ASH1LASH1 like histone lysine methyltransferase | Visada | 1 ligoje |
| BRD4bromodomain containing 4 | Visada | 1 ligoje |
| COL13A1collagen type XIII alpha 1 chain | Visada | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Visada | 6 ligose |
| CUL7cullin 7 | Visada | 1 ligoje |
| ERI1exoribonuclease 1 | Visada | 1 ligoje |
| FEM1Bfem-1 homolog B | Visada | 1 ligoje |
| FRYLFRY like transcription coactivator | Visada | 1 ligoje |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Visada | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Visada | 1 ligoje |
| GTPBP1GTP binding protein 1 | Visada | 1 ligoje |
| HYOU1hypoxia up-regulated 1 | Visada | 1 ligoje |
| IL6STinterleukin 6 cytokine family signal transducer | Visada | 1 ligoje |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KRT5keratin 5 | Visada | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Visada | 1 ligoje |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Visada | 1 ligoje |
| OBSL1obscurin like cytoskeletal adaptor 1 | Visada | 1 ligoje |
| PLAAphospholipase A2 activating protein | Visada | 2 ligose |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Visada | 1 ligoje |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Visada | 1 ligoje |
| RAB33BRAB33B, member RAS oncogene family | Visada | 1 ligoje |
| SLC12A2solute carrier family 12 member 2 | Visada | 1 ligoje |
| SLC13A1solute carrier family 13 member 1 | Visada | 1 ligoje |
| SLC37A4solute carrier family 37 member 4 | Visada | 1 ligoje |
| SP7Sp7 transcription factor | Visada | 1 ligoje |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Visada | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 4 ligose |
| CBLCbl proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| DYMdymeclin | Labai dažnai (80–99%) | 2 ligose |
| FBN1fibrillin 1 | Labai dažnai (80–99%) | 5 ligose |
| KRASKRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 3 ligose |
| LZTR1leucine zipper like post translational regulator 1 | Labai dažnai (80–99%) | 3 ligose |
| MRASmuscle RAS oncogene homolog | Labai dažnai (80–99%) | 1 ligoje |
| NEU1neuraminidase 1 | Labai dažnai (80–99%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Labai dažnai (80–99%) | 3 ligose |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 2 ligose |
Rodyti dar 142 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| RASA2RAS p21 protein activator 2 | Labai dažnai (80–99%) | 1 ligoje |
| RIT1Ras like without CAAX 1 | Labai dažnai (80–99%) | 1 ligoje |
| RPS6KA3ribosomal protein S6 kinase A3 | Labai dažnai (80–99%) | 3 ligose |
| RRASRAS related | Labai dažnai (80–99%) | 1 ligoje |
| RRAS2RAS related 2 | Labai dažnai (80–99%) | 1 ligoje |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Labai dažnai (80–99%) | 2 ligose |
| ACTBactin beta | Dažnai (30–79%) | 1 ligoje |
| AGAaspartylglucosaminidase | Dažnai (30–79%) | 1 ligoje |
| ARSBarylsulfatase B | Dažnai (30–79%) | 1 ligoje |
| ATP7AATPase copper transporting alpha | Dažnai (30–79%) | 2 ligose |
| BMP1bone morphogenetic protein 1 | Dažnai (30–79%) | 1 ligoje |
| CBScystathionine beta-synthase | Dažnai (30–79%) | 2 ligose |
| DDR2discoidin domain receptor tyrosine kinase 2 | Dažnai (30–79%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Dažnai (30–79%) | 1 ligoje |
| FLNBfilamin B | Dažnai (30–79%) | 3 ligose |
| FN1fibronectin 1 | Dažnai (30–79%) | 2 ligose |
| GZF1GDNF inducible zinc finger protein 1 | Dažnai (30–79%) | 1 ligoje |
| HBA1hemoglobin subunit alpha 1 | Dažnai (30–79%) | 1 ligoje |
| HBA2hemoglobin subunit alpha 2 | Dažnai (30–79%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Dažnai (30–79%) | 2 ligose |
| MAXMYC associated transcriptional regulator X | Dažnai (30–79%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Dažnai (30–79%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Dažnai (30–79%) | 1 ligoje |
| MMEmembrane metalloendopeptidase | Dažnai (30–79%) | 2 ligose |
| MYH3myosin heavy chain 3 | Dažnai (30–79%) | 2 ligose |
| NALCNsodium leak channel, non-selective | Dažnai (30–79%) | 1 ligoje |
| NF1neurofibromin 1 | Dažnai (30–79%) | 2 ligose |
| NKAPNFKB activating protein | Dažnai (30–79%) | 1 ligoje |
| NKX2-5NK2 homeobox 5 | Dažnai (30–79%) | 1 ligoje |
| NKX3-2NK3 homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Dažnai (30–79%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Dažnai (30–79%) | 1 ligoje |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Dažnai (30–79%) | 1 ligoje |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Dažnai (30–79%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Dažnai (30–79%) | 1 ligoje |
| SIL1SIL1 nucleotide exchange factor | Dažnai (30–79%) | 1 ligoje |
| SKISKI proto-oncogene | Dažnai (30–79%) | 2 ligose |
| SOX5SRY-box transcription factor 5 | Dažnai (30–79%) | 2 ligose |
| SV2Asynaptic vesicle glycoprotein 2A | Dažnai (30–79%) | 1 ligoje |
| TGFBR1transforming growth factor beta receptor 1 | Dažnai (30–79%) | 2 ligose |
| TGFBR2transforming growth factor beta receptor 2 | Dažnai (30–79%) | 2 ligose |
| TNFRSF11ATNF receptor superfamily member 11a | Dažnai (30–79%) | 1 ligoje |
| TNFRSF11BTNF receptor superfamily member 11b | Dažnai (30–79%) | 1 ligoje |
| TNNT1troponin T1, slow skeletal type | Dažnai (30–79%) | 3 ligose |
| TRAF7TNF receptor associated factor 7 | Dažnai (30–79%) | 1 ligoje |
| TRPS1transcriptional repressor GATA binding 1 | Dažnai (30–79%) | 2 ligose |
| UCHL1ubiquitin C-terminal hydrolase L1 | Dažnai (30–79%) | 1 ligoje |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Dažnai (30–79%) | 2 ligose |
| VPS37AVPS37A subunit of ESCRT-I | Dažnai (30–79%) | 2 ligose |
| XYLT2xylosyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| ZNF668zinc finger protein 668 | Dažnai (30–79%) | 1 ligoje |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Kartais (5–29%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Kartais (5–29%) | 1 ligoje |
| ATAD3AATPase family AAA domain containing 3A | Kartais (5–29%) | 2 ligose |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Kartais (5–29%) | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Kartais (5–29%) | 1 ligoje |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Kartais (5–29%) | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Kartais (5–29%) | 1 ligoje |
| COL11A2collagen type XI alpha 2 chain | Kartais (5–29%) | 1 ligoje |
| CSF1Rcolony stimulating factor 1 receptor | Kartais (5–29%) | 1 ligoje |
| DSTdystonin | Kartais (5–29%) | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Kartais (5–29%) | 1 ligoje |
| DVL3dishevelled segment polarity protein 3 | Kartais (5–29%) | 1 ligoje |
| FAM149B1family with sequence similarity 149 member B1 | Kartais (5–29%) | 1 ligoje |
| FBN2fibrillin 2 | Kartais (5–29%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Kartais (5–29%) | 1 ligoje |
| GLB1galactosidase beta 1 | Kartais (5–29%) | 1 ligoje |
| GORABgolgin, RAB6 interacting | Kartais (5–29%) | 1 ligoje |
| GPC3glypican 3 | Kartais (5–29%) | 1 ligoje |
| GTPBP2GTP binding protein 2 | Kartais (5–29%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Kartais (5–29%) | 1 ligoje |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Kartais (5–29%) | 1 ligoje |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Kartais (5–29%) | 1 ligoje |
| IHHIndian hedgehog signaling molecule | Kartais (5–29%) | 2 ligose |
| IPO8importin 8 | Kartais (5–29%) | 2 ligose |
| LGI3leucine rich repeat LGI family member 3 | Kartais (5–29%) | 1 ligoje |
| MAN1B1mannosidase alpha class 1B member 1 | Kartais (5–29%) | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Kartais (5–29%) | 2 ligose |
| MED25mediator complex subunit 25 | Kartais (5–29%) | 2 ligose |
| MFAP5microfibril associated protein 5 | Kartais (5–29%) | 1 ligoje |
| MYF5myogenic factor 5 | Kartais (5–29%) | 1 ligoje |
| NOTCH2notch receptor 2 | Kartais (5–29%) | 1 ligoje |
| NXNnucleoredoxin | Kartais (5–29%) | 1 ligoje |
| PTF1Apancreas associated transcription factor 1a | Kartais (5–29%) | 1 ligoje |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Kartais (5–29%) | 1 ligoje |
| PYCR1pyrroline-5-carboxylate reductase 1 | Kartais (5–29%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Kartais (5–29%) | 1 ligoje |
| RAP1BRAP1B, member of RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Kartais (5–29%) | 1 ligoje |
| RNF135ring finger protein 135 | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Kartais (5–29%) | 1 ligoje |
| SLC2A10solute carrier family 2 member 10 | Kartais (5–29%) | 1 ligoje |
| SMAD2SMAD family member 2 | Kartais (5–29%) | 1 ligoje |
| SMAD3SMAD family member 3 | Kartais (5–29%) | 3 ligose |
| SNX14sorting nexin 14 | Kartais (5–29%) | 1 ligoje |
| SOX9SRY-box transcription factor 9 | Kartais (5–29%) | 1 ligoje |
| TBX3T-box transcription factor 3 | Kartais (5–29%) | 1 ligoje |
| TBX6T-box transcription factor 6 | Kartais (5–29%) | 1 ligoje |
| TELO2telomere maintenance 2 | Kartais (5–29%) | 1 ligoje |
| TGFB2transforming growth factor beta 2 | Kartais (5–29%) | 1 ligoje |
| TGFB3transforming growth factor beta 3 | Kartais (5–29%) | 2 ligose |
| TOE1target of EGR1, exonuclease | Kartais (5–29%) | 1 ligoje |
| TPM2tropomyosin 2 | Kartais (5–29%) | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Kartais (5–29%) | 3 ligose |
| UBTFupstream binding transcription factor | Kartais (5–29%) | 1 ligoje |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Kartais (5–29%) | 1 ligoje |
| WNT5AWnt family member 5A | Kartais (5–29%) | 1 ligoje |
| XYLT1xylosyltransferase 1 | 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 |
| ACP5acid phosphatase 5, tartrate resistant | Retai (1–4 %) | 1 ligoje |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Retai (1–4 %) | 1 ligoje |
| NEK1NIMA related kinase 1 | Retai (1–4 %) | 1 ligoje |
| SMSspermine synthase | Retai (1–4 %) | 2 ligose |
| TBCDtubulin folding cofactor D | Retai (1–4 %) | 1 ligoje |
| B4GALT7beta-1,4-galactosyltransferase 7 | Neužfiksuota | 1 ligoje |
| BGNbiglycan | Neužfiksuota | 1 ligoje |
| CHRM3cholinergic receptor muscarinic 3 | Neužfiksuota | 1 ligoje |
| COG4component of oligomeric golgi complex 4 | Neužfiksuota | 1 ligoje |
| EVCEvC ciliary complex subunit 1 | Neužfiksuota | 1 ligoje |
| EVC2EvC ciliary complex subunit 2 | Neužfiksuota | 1 ligoje |
| FKBP10FKBP prolyl isomerase 10 | Neužfiksuota | 1 ligoje |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Neužfiksuota | 1 ligoje |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Neužfiksuota | 1 ligoje |
| GUSBglucuronidase beta | Neužfiksuota | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| KIF7kinesin family member 7 | Neužfiksuota | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Neužfiksuota | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Neužfiksuota | 1 ligoje |
| ORC1origin recognition complex subunit 1 | Neužfiksuota | 1 ligoje |
| PCGF2polycomb group ring finger 2 | Neužfiksuota | 1 ligoje |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Neužfiksuota | 1 ligoje |
| PPIBpeptidylprolyl isomerase B | Neužfiksuota | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Neužfiksuota | 1 ligoje |
| TGDSTDP-glucose 4,6-dehydratase | Neužfiksuota | 1 ligoje |
| TRIP11thyroid hormone receptor interactor 11 | Neužfiksuota | 1 ligoje |
| WNT7AWnt family member 7A | Neužfiksuota | 1 ligoje |
| ZDHHC9zDHHC palmitoyltransferase 9 | 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.
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- 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.
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