Træk
Narrowing of pulmonic valve
Klinisk navn: Pulmonic stenosis
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Resumé
- Også kaldet
- Pulmonary stenosis, Pulmonary valve stenosis, Pulmonic valve stenosis
- Kropssystem
- Abnormality of the cardiovascular system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test148 gener knyttet til Narrowing of pulmonic valve
Ændringer i disse gener forårsager sjældne tilstande, hvor Narrowing of pulmonic valve ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ADAMTS19ADAM metallopeptidase with thrombospondin type 1 motif 19 | Altid | I 1 tilstand |
| AMOTL1angiomotin like 1 | Altid | I 1 tilstand |
| CCT3chaperonin containing TCP1 subunit 3 | Altid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Altid | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Altid | I 1 tilstand |
| DAND5DAN domain BMP antagonist family member 5 | Altid | I 1 tilstand |
| GPC3glypican 3 | Altid | I 1 tilstand |
| IGFBP7insulin like growth factor binding protein 7 | Altid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 2 tilstande |
| NRASNRAS proto-oncogene, GTPase | Altid | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Altid | I 1 tilstand |
| RPL27ribosomal protein L27 | Altid | I 1 tilstand |
| SMAD2SMAD family member 2 | Altid | I 1 tilstand |
| TBX5T-box transcription factor 5 | Altid | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Meget ofte (80–99 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 5 tilstande |
| HRASHRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 2 tilstande |
| KRASKRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 3 tilstande |
| MAP2K1mitogen-activated protein kinase kinase 1 | Meget ofte (80–99 %) | I 4 tilstande |
| MAP2K2mitogen-activated protein kinase kinase 2 | Meget ofte (80–99 %) | I 4 tilstande |
| NF1neurofibromin 1 | Meget ofte (80–99 %) | I 6 tilstande |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Meget ofte (80–99 %) | I 3 tilstande |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Ofte (30–79 %) | I 2 tilstande |
| B3GLCTbeta 3-glucosyltransferase | Ofte (30–79 %) | I 2 tilstande |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Ofte (30–79 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Ofte (30–79 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Ofte (30–79 %) | I 1 tilstand |
| CCDC32coiled-coil domain containing 32 | Ofte (30–79 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CUL3cullin 3 | Ofte (30–79 %) | I 1 tilstand |
| DAW1dynein assembly factor with WD repeats 1 | Ofte (30–79 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ofte (30–79 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| DSG1desmoglein 1 | Ofte (30–79 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 3 tilstande |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Ofte (30–79 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Ofte (30–79 %) | I 1 tilstand |
Vis 108 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| GTF2IRD1GTF2I repeat domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ofte (30–79 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Ofte (30–79 %) | I 1 tilstand |
| KIF20Akinesin family member 20A | Ofte (30–79 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| LTBP2latent transforming growth factor beta binding protein 2 | Ofte (30–79 %) | I 2 tilstande |
| METTL27methyltransferase like 27 | Ofte (30–79 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Ofte (30–79 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Ofte (30–79 %) | I 1 tilstand |
| NEK9NIMA related kinase 9 | Ofte (30–79 %) | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Ofte (30–79 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ofte (30–79 %) | I 2 tilstande |
| RAD21RAD21 cohesin complex component | Ofte (30–79 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Ofte (30–79 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Ofte (30–79 %) | I 2 tilstande |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SOX17SRY-box transcription factor 17 | Ofte (30–79 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| STRA6signaling receptor and transporter of retinol STRA6 | Ofte (30–79 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Ofte (30–79 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Ofte (30–79 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Ofte (30–79 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Ofte (30–79 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Ofte (30–79 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Ofte (30–79 %) | I 2 tilstande |
| WNT4Wnt family member 4 | Ofte (30–79 %) | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Ofte (30–79 %) | I 1 tilstand |
| ZIC3Zic family zinc finger 3 | Ofte (30–79 %) | I 1 tilstand |
| ACAD8acyl-CoA dehydrogenase family member 8 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Nogle gange (5–29 %) | I 1 tilstand |
| ADKadenosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| AGO2argonaute RISC catalytic component 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ANKS6ankyrin repeat and sterile alpha motif domain containing 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ARPC4actin related protein 2/3 complex subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Nogle gange (5–29 %) | I 1 tilstand |
| CACHD1cache domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CICcapicua transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| CIROPciliated left-right organizer metallopeptidase | Nogle gange (5–29 %) | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| FBXW11F-box and WD repeat domain containing 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Nogle gange (5–29 %) | I 1 tilstand |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Nogle gange (5–29 %) | I 2 tilstande |
| GATA6GATA binding protein 6 | Nogle gange (5–29 %) | I 2 tilstande |
| KAT6Alysine acetyltransferase 6A | Nogle gange (5–29 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL20kelch like family member 20 | Nogle gange (5–29 %) | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NEK8NIMA related kinase 8 | Nogle gange (5–29 %) | I 2 tilstande |
| NIPBLNIPBL cohesin loading factor | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH1notch receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NPHP3nephrocystin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PLD1phospholipase D1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLXND1plexin D1 | Nogle gange (5–29 %) | I 2 tilstande |
| POLR3ARNA polymerase III subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RNF135ring finger protein 135 | Nogle gange (5–29 %) | I 1 tilstand |
| SARDHsarcosine dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| SGO1shugoshin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Nogle gange (5–29 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A11solute carrier family 6 member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Nogle gange (5–29 %) | I 2 tilstande |
| SMAD4SMAD family member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD6SMAD family member 6 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX2T-box transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Nogle gange (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Nogle gange (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 3 tilstande |
| ZNF341zinc finger protein 341 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Sjældent (1–4%) | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Sjældent (1–4%) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Sjældent (1–4%) | I 2 tilstande |
| EP300EP300 lysine acetyltransferase | Sjældent (1–4%) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Sjældent (1–4%) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Sjældent (1–4%) | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Sjældent (1–4%) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Sjældent (1–4%) | I 1 tilstand |
| ARHGAP31Rho GTPase activating protein 31 | Ikke registreret | I 1 tilstand |
| BCORBCL6 corepressor | Ikke registreret | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ikke registreret | I 1 tilstand |
| CDC42cell division cycle 42 | Ikke registreret | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registreret | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Ikke registreret | I 1 tilstand |
| FKTNfukutin | Ikke registreret | I 1 tilstand |
| FLT4fms related receptor tyrosine kinase 4 | Ikke registreret | I 1 tilstand |
| GDF1growth differentiation factor 1 | Ikke registreret | I 2 tilstande |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Ikke registreret | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Ikke registreret | I 1 tilstand |
| MGPmatrix Gla protein | Ikke registreret | I 1 tilstand |
| NOTCH2notch receptor 2 | Ikke registreret | I 1 tilstand |
| NRXN1neurexin 1 | Ikke registreret | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger