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Kenmerk
Narrowing of pulmonic valve
Klinische naam: 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).
Samenvatting
- Ook bekend als
- Pulmonary stenosis, Pulmonary valve stenosis, Pulmonic valve stenosis
- Lichaamssysteem
- Abnormality of the cardiovascular system
Narrowing of pulmonic valveHP:0001642
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Mijn Genome Test bestellen148 genen gekoppeld aan Narrowing of pulmonic valve
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Narrowing of pulmonic valve voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ADAMTS19ADAM metallopeptidase with thrombospondin type 1 motif 19 | Altijd | In 1 aandoening |
| AMOTL1angiomotin like 1 | Altijd | In 1 aandoening |
| CCT3chaperonin containing TCP1 subunit 3 | Altijd | In 1 aandoening |
| CILK1ciliogenesis associated kinase 1 | Altijd | In 1 aandoening |
| COL3A1collagen type III alpha 1 chain | Altijd | In 1 aandoening |
| DAND5DAN domain BMP antagonist family member 5 | Altijd | In 1 aandoening |
| GPC3glypican 3 | Altijd | In 1 aandoening |
| IGFBP7insulin like growth factor binding protein 7 | Altijd | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altijd | In 2 aandoeningen |
| NRASNRAS proto-oncogene, GTPase | Altijd | In 1 aandoening |
| RNU5B-1RNA, U5B small nuclear 1 | Altijd | In 1 aandoening |
| RPL27ribosomal protein L27 | Altijd | In 1 aandoening |
| SMAD2SMAD family member 2 | Altijd | In 1 aandoening |
| TBX5T-box transcription factor 5 | Altijd | In 1 aandoening |
| B4GALT7beta-1,4-galactosyltransferase 7 | Heel vaak (80–99%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 5 aandoeningen |
| HRASHRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 2 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 3 aandoeningen |
| MAP2K1mitogen-activated protein kinase kinase 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| MAP2K2mitogen-activated protein kinase kinase 2 | Heel vaak (80–99%) | In 4 aandoeningen |
| NF1neurofibromin 1 | Heel vaak (80–99%) | In 6 aandoeningen |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Heel vaak (80–99%) | In 3 aandoeningen |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Vaak (30–79%) | In 2 aandoeningen |
| B3GLCTbeta 3-glucosyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Vaak (30–79%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Vaak (30–79%) | In 1 aandoening |
| CCDC22CCC complex scaffolding subunit CCDC22 | Vaak (30–79%) | In 1 aandoening |
| CCDC32coiled-coil domain containing 32 | Vaak (30–79%) | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Vaak (30–79%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Vaak (30–79%) | In 1 aandoening |
| CUL3cullin 3 | Vaak (30–79%) | In 1 aandoening |
| DAW1dynein assembly factor with WD repeats 1 | Vaak (30–79%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Vaak (30–79%) | In 1 aandoening |
| DPYSL5dihydropyrimidinase like 5 | Vaak (30–79%) | In 1 aandoening |
| DSG1desmoglein 1 | Vaak (30–79%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Vaak (30–79%) | In 1 aandoening |
| ELNelastin | Vaak (30–79%) | In 3 aandoeningen |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Vaak (30–79%) | In 1 aandoening |
| GTF2Igeneral transcription factor IIi | Vaak (30–79%) | In 1 aandoening |
Toon nog 108 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| GTF2IRD1GTF2I repeat domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| HIVEP2HIVEP zinc finger 2 | Vaak (30–79%) | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Vaak (30–79%) | In 1 aandoening |
| KDM2Blysine demethylase 2B | Vaak (30–79%) | In 1 aandoening |
| KIF20Akinesin family member 20A | Vaak (30–79%) | In 1 aandoening |
| LIMK1LIM domain kinase 1 | Vaak (30–79%) | In 1 aandoening |
| LTBP2latent transforming growth factor beta binding protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| METTL27methyltransferase like 27 | Vaak (30–79%) | In 1 aandoening |
| MLXIPLMLX interacting protein like | Vaak (30–79%) | In 1 aandoening |
| MRASmuscle RAS oncogene homolog | Vaak (30–79%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Vaak (30–79%) | In 1 aandoening |
| NEK9NIMA related kinase 9 | Vaak (30–79%) | In 1 aandoening |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Vaak (30–79%) | In 1 aandoening |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Vaak (30–79%) | In 2 aandoeningen |
| RAD21RAD21 cohesin complex component | Vaak (30–79%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | Vaak (30–79%) | In 1 aandoening |
| RIT1Ras like without CAAX 1 | Vaak (30–79%) | In 1 aandoening |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Vaak (30–79%) | In 2 aandoeningen |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Vaak (30–79%) | In 1 aandoening |
| SOX17SRY-box transcription factor 17 | Vaak (30–79%) | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| STRA6signaling receptor and transporter of retinol STRA6 | Vaak (30–79%) | In 1 aandoening |
| STX1Asyntaxin 1A | Vaak (30–79%) | In 1 aandoening |
| TBL2transducin beta like 2 | Vaak (30–79%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Vaak (30–79%) | In 1 aandoening |
| VPS35LVPS35 endosomal protein sorting factor like | Vaak (30–79%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Vaak (30–79%) | In 1 aandoening |
| WASHC5WASH complex subunit 5 | Vaak (30–79%) | In 2 aandoeningen |
| WNT4Wnt family member 4 | Vaak (30–79%) | In 1 aandoening |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Vaak (30–79%) | In 1 aandoening |
| ZIC3Zic family zinc finger 3 | Vaak (30–79%) | In 1 aandoening |
| ACAD8acyl-CoA dehydrogenase family member 8 | Soms (5–29%) | In 1 aandoening |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Soms (5–29%) | In 1 aandoening |
| ADKadenosine kinase | Soms (5–29%) | In 1 aandoening |
| AGO2argonaute RISC catalytic component 2 | Soms (5–29%) | In 1 aandoening |
| ANKS6ankyrin repeat and sterile alpha motif domain containing 6 | Soms (5–29%) | In 1 aandoening |
| ARPC4actin related protein 2/3 complex subunit 4 | Soms (5–29%) | In 1 aandoening |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Soms (5–29%) | In 1 aandoening |
| CACHD1cache domain containing 1 | Soms (5–29%) | In 1 aandoening |
| CICcapicua transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| CIROPciliated left-right organizer metallopeptidase | Soms (5–29%) | In 1 aandoening |
| DCHS1dachsous cadherin-related 1 | Soms (5–29%) | In 1 aandoening |
| DDX3XDEAD-box helicase 3 X-linked | Soms (5–29%) | In 1 aandoening |
| FAT4FAT atypical cadherin 4 | Soms (5–29%) | In 1 aandoening |
| FBN1fibrillin 1 | Soms (5–29%) | In 2 aandoeningen |
| FBXW11F-box and WD repeat domain containing 11 | Soms (5–29%) | In 1 aandoening |
| FRYLFRY like transcription coactivator | Soms (5–29%) | In 1 aandoening |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Soms (5–29%) | In 1 aandoening |
| GATA4GATA binding protein 4 | Soms (5–29%) | In 2 aandoeningen |
| GATA6GATA binding protein 6 | Soms (5–29%) | In 2 aandoeningen |
| KAT6Alysine acetyltransferase 6A | Soms (5–29%) | In 1 aandoening |
| KDM6Alysine demethylase 6A | Soms (5–29%) | In 1 aandoening |
| KLHL20kelch like family member 20 | Soms (5–29%) | In 1 aandoening |
| LRP4LDL receptor related protein 4 | Soms (5–29%) | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Soms (5–29%) | In 2 aandoeningen |
| NEK8NIMA related kinase 8 | Soms (5–29%) | In 2 aandoeningen |
| NIPBLNIPBL cohesin loading factor | Soms (5–29%) | In 1 aandoening |
| NOTCH1notch receptor 1 | Soms (5–29%) | In 1 aandoening |
| NPHP3nephrocystin 3 | Soms (5–29%) | In 1 aandoening |
| OTUD5OTU deubiquitinase 5 | Soms (5–29%) | In 1 aandoening |
| PLD1phospholipase D1 | Soms (5–29%) | In 1 aandoening |
| PLXND1plexin D1 | Soms (5–29%) | In 2 aandoeningen |
| POLR3ARNA polymerase III subunit A | Soms (5–29%) | In 1 aandoening |
| RAP1BRAP1B, member of RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RNF135ring finger protein 135 | Soms (5–29%) | In 1 aandoening |
| SARDHsarcosine dehydrogenase | Soms (5–29%) | In 1 aandoening |
| SGO1shugoshin 1 | Soms (5–29%) | In 1 aandoening |
| SKIC3SKI3 subunit of superkiller complex | Soms (5–29%) | In 1 aandoening |
| SLC29A3solute carrier family 29 member 3 | Soms (5–29%) | In 1 aandoening |
| SLC6A1solute carrier family 6 member 1 | Soms (5–29%) | In 1 aandoening |
| SLC6A11solute carrier family 6 member 11 | Soms (5–29%) | In 1 aandoening |
| SMAD3SMAD family member 3 | Soms (5–29%) | In 2 aandoeningen |
| SMAD4SMAD family member 4 | Soms (5–29%) | In 1 aandoening |
| SMAD6SMAD family member 6 | Soms (5–29%) | In 1 aandoening |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Soms (5–29%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Soms (5–29%) | In 1 aandoening |
| SMC5structural maintenance of chromosomes 5 | Soms (5–29%) | In 1 aandoening |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Soms (5–29%) | In 1 aandoening |
| TBX2T-box transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| TRA2Btransformer 2 beta homolog | Soms (5–29%) | In 1 aandoening |
| WACWW domain containing adaptor with coiled-coil | Soms (5–29%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Soms (5–29%) | In 3 aandoeningen |
| ZNF341zinc finger protein 341 | Soms (5–29%) | In 1 aandoening |
| ZNF699zinc finger protein 699 | Soms (5–29%) | In 1 aandoening |
| BPTFbromodomain PHD finger transcription factor | Zelden (1–4%) | In 1 aandoening |
| CHD3chromodomain helicase DNA binding protein 3 | Zelden (1–4%) | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Zelden (1–4%) | In 2 aandoeningen |
| EP300EP300 lysine acetyltransferase | Zelden (1–4%) | In 1 aandoening |
| KDM6Blysine demethylase 6B | Zelden (1–4%) | In 1 aandoening |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Zelden (1–4%) | In 1 aandoening |
| SPRED1sprouty related EVH1 domain containing 1 | Zelden (1–4%) | In 1 aandoening |
| TBCKTBC1 domain containing kinase | Zelden (1–4%) | In 1 aandoening |
| ARHGAP31Rho GTPase activating protein 31 | Niet vastgelegd | In 1 aandoening |
| BCORBCL6 corepressor | Niet vastgelegd | In 1 aandoening |
| BMP2bone morphogenetic protein 2 | Niet vastgelegd | In 1 aandoening |
| CDC42cell division cycle 42 | Niet vastgelegd | In 1 aandoening |
| CHST3carbohydrate sulfotransferase 3 | Niet vastgelegd | In 1 aandoening |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Niet vastgelegd | In 1 aandoening |
| FKTNfukutin | Niet vastgelegd | In 1 aandoening |
| FLT4fms related receptor tyrosine kinase 4 | Niet vastgelegd | In 1 aandoening |
| GDF1growth differentiation factor 1 | Niet vastgelegd | In 2 aandoeningen |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Niet vastgelegd | In 1 aandoening |
| MGPmatrix Gla protein | Niet vastgelegd | In 1 aandoening |
| NOTCH2notch receptor 2 | Niet vastgelegd | In 1 aandoening |
| NRXN1neurexin 1 | Niet vastgelegd | In 1 aandoening |
| RAB23RAB23, member RAS oncogene family | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
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Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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