Kenmerk
Fainting spell
Klinische naam: Syncope
A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion.
Samenvatting
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Fainting spell 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 |
|---|---|---|
| AKAP9A-kinase anchoring protein 9 | Altijd | In 2 aandoeningen |
| ARHGEF15Rho guanine nucleotide exchange factor 15 | Altijd | In 1 aandoening |
| CALM1calmodulin 1 | Altijd | In 1 aandoening |
| CASQ2calsequestrin 2 | Altijd | In 2 aandoeningen |
| CTSAcathepsin A | Altijd | In 1 aandoening |
| GYS1glycogen synthase 1 | Altijd | In 2 aandoeningen |
| HIVEP2HIVEP zinc finger 2 | Altijd | In 1 aandoening |
| KCNE1potassium voltage-gated channel subfamily E regulatory subunit 1 | Altijd | In 4 aandoeningen |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Altijd | In 7 aandoeningen |
| LMNAlamin A/C | Altijd | In 2 aandoeningen |
| NOTCH3notch receptor 3 | Altijd | In 1 aandoening |
| POPDC1popeye domain cAMP effector 1 | Altijd | In 1 aandoening |
| SNTA1syntrophin alpha 1 | Altijd | In 1 aandoening |
| CALM2calmodulin 2 | Heel vaak (80–99%) | In 1 aandoening |
| HCN4hyperpolarization activated cyclic nucleotide gated potassium channel 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Heel vaak (80–99%) | In 3 aandoeningen |
| LAMP2lysosome associated membrane protein 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| NIT1nitrilase 1 | Heel vaak (80–99%) | In 1 aandoening |
| RYR2ryanodine receptor 2 | Heel vaak (80–99%) | In 1 aandoening |
| TRDNtriadin | Heel vaak (80–99%) | In 2 aandoeningen |
| ABCC9ATP binding cassette subfamily C member 9 | Vaak (30–79%) | In 2 aandoeningen |
| ALG10BALG10 alpha-1,2-glucosyltransferase B | Vaak (30–79%) | In 1 aandoening |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Vaak (30–79%) | In 3 aandoeningen |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Vaak (30–79%) | In 1 aandoening |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Vaak (30–79%) | In 2 aandoeningen |
| CACNB2calcium voltage-gated channel auxiliary subunit beta 2 | Vaak (30–79%) | In 2 aandoeningen |
| CAV3caveolin 3 | Vaak (30–79%) | In 1 aandoening |
| DBHdopamine beta-hydroxylase | Vaak (30–79%) | In 1 aandoening |
| DLSTdihydrolipoamide S-succinyltransferase | Vaak (30–79%) | In 1 aandoening |
| DNMT3ADNA methyltransferase 3 alpha | Vaak (30–79%) | In 1 aandoening |
| DSC2desmocollin 2 | Vaak (30–79%) | In 1 aandoening |
| ELNelastin | Vaak (30–79%) | In 1 aandoening |
| EPAS1endothelial PAS domain protein 1 | Vaak (30–79%) | In 1 aandoening |
| FHfumarate hydratase | Vaak (30–79%) | In 1 aandoening |
| GATA4GATA binding protein 4 | Vaak (30–79%) | In 2 aandoeningen |
| GATA5GATA binding protein 5 | Vaak (30–79%) | In 1 aandoening |
| GATA6GATA binding protein 6 | Vaak (30–79%) | In 2 aandoeningen |
| GJA5gap junction protein alpha 5 | Vaak (30–79%) | In 1 aandoening |
| GPD1Lglycerol-3-phosphate dehydrogenase 1 like | Vaak (30–79%) | In 2 aandoeningen |
| JUPjunction plakoglobin | Vaak (30–79%) | In 2 aandoeningen |
Toon nog 99 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| KCNA5potassium voltage-gated channel subfamily A member 5 | Vaak (30–79%) | In 1 aandoening |
| KCND3potassium voltage-gated channel subfamily D member 3 | Vaak (30–79%) | In 1 aandoening |
| KCNE2potassium voltage-gated channel subfamily E regulatory subunit 2 | Vaak (30–79%) | In 2 aandoeningen |
| KCNE3potassium voltage-gated channel subfamily E regulatory subunit 3 | Vaak (30–79%) | In 1 aandoening |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Vaak (30–79%) | In 1 aandoening |
| KCNH2potassium voltage-gated channel subfamily H member 2 | Vaak (30–79%) | In 3 aandoeningen |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Vaak (30–79%) | In 4 aandoeningen |
| KCNJ3potassium inwardly rectifying channel subfamily J member 3 | Vaak (30–79%) | In 1 aandoening |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Vaak (30–79%) | In 1 aandoening |
| KIF1Bkinesin family member 1B | Vaak (30–79%) | In 1 aandoening |
| MAXMYC associated transcriptional regulator X | Vaak (30–79%) | In 1 aandoening |
| MDH2malate dehydrogenase 2 | Vaak (30–79%) | In 1 aandoening |
| MYL4myosin light chain 4 | Vaak (30–79%) | In 1 aandoening |
| NF1neurofibromin 1 | Vaak (30–79%) | In 1 aandoening |
| NKX2-5NK2 homeobox 5 | Vaak (30–79%) | In 3 aandoeningen |
| NKX2-6NK2 homeobox 6 | Vaak (30–79%) | In 1 aandoening |
| NPPAnatriuretic peptide A | Vaak (30–79%) | In 2 aandoeningen |
| NUP155nucleoporin 155 | Vaak (30–79%) | In 1 aandoening |
| PITX2paired like homeodomain 2 | Vaak (30–79%) | In 1 aandoening |
| PKP2plakophilin 2 | Vaak (30–79%) | In 2 aandoeningen |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Vaak (30–79%) | In 2 aandoeningen |
| PSEN1presenilin 1 | Vaak (30–79%) | In 1 aandoening |
| RANGRFRAN guanine nucleotide release factor | Vaak (30–79%) | In 1 aandoening |
| RETret proto-oncogene | Vaak (30–79%) | In 2 aandoeningen |
| SCN10Asodium voltage-gated channel alpha subunit 10 | Vaak (30–79%) | In 1 aandoening |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Vaak (30–79%) | In 3 aandoeningen |
| SCN2Bsodium voltage-gated channel beta subunit 2 | Vaak (30–79%) | In 2 aandoeningen |
| SCN3Bsodium voltage-gated channel beta subunit 3 | Vaak (30–79%) | In 2 aandoeningen |
| SCN4Bsodium voltage-gated channel beta subunit 4 | Vaak (30–79%) | In 1 aandoening |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Vaak (30–79%) | In 9 aandoeningen |
| SCNN1Asodium channel epithelial 1 subunit alpha | Vaak (30–79%) | In 1 aandoening |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Vaak (30–79%) | In 1 aandoening |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Vaak (30–79%) | In 1 aandoening |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Vaak (30–79%) | In 2 aandoeningen |
| SDHCsuccinate dehydrogenase complex subunit C | Vaak (30–79%) | In 1 aandoening |
| SDHDsuccinate dehydrogenase complex subunit D | Vaak (30–79%) | In 2 aandoeningen |
| SEMA3Asemaphorin 3A | Vaak (30–79%) | In 1 aandoening |
| SLC25A11solute carrier family 25 member 11 | Vaak (30–79%) | In 1 aandoening |
| SLMAPsarcolemma associated protein | Vaak (30–79%) | In 1 aandoening |
| TECRLtrans-2,3-enoyl-CoA reductase like | Vaak (30–79%) | In 1 aandoening |
| TMEM127transmembrane protein 127 | Vaak (30–79%) | In 1 aandoening |
| TRPM4transient receptor potential cation channel subfamily M member 4 | Vaak (30–79%) | In 3 aandoeningen |
| TTNtitin | Vaak (30–79%) | In 1 aandoening |
| VHLvon Hippel-Lindau tumor suppressor | Vaak (30–79%) | In 2 aandoeningen |
| ABCC8ATP binding cassette subfamily C member 8 | Soms (5–29%) | In 1 aandoening |
| ACTC1actin alpha cardiac muscle 1 | Soms (5–29%) | In 2 aandoeningen |
| ANK2ankyrin 2 | Soms (5–29%) | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | Soms (5–29%) | In 1 aandoening |
| CTSHcathepsin H | Soms (5–29%) | In 1 aandoening |
| DSPdesmoplakin | Soms (5–29%) | In 1 aandoening |
| GNB2G protein subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| HCRThypocretin neuropeptide precursor | Soms (5–29%) | In 1 aandoening |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Soms (5–29%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Soms (5–29%) | In 1 aandoening |
| HNF1AHNF1 homeobox A | Soms (5–29%) | In 1 aandoening |
| JAK2Janus kinase 2 | Soms (5–29%) | In 1 aandoening |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Soms (5–29%) | In 1 aandoening |
| KITKIT proto-oncogene, receptor tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| MOGmyelin oligodendrocyte glycoprotein | Soms (5–29%) | In 1 aandoening |
| MPLMPL proto-oncogene, thrombopoietin receptor | Soms (5–29%) | In 1 aandoening |
| MYBPC3myosin binding protein C3 | Soms (5–29%) | In 2 aandoeningen |
| MYOZ2myozenin 2 | Soms (5–29%) | In 1 aandoening |
| NOTCH2NLCnotch 2 N-terminal like C | Soms (5–29%) | In 1 aandoening |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Soms (5–29%) | In 1 aandoening |
| P2RY11purinergic receptor P2Y11 | Soms (5–29%) | In 1 aandoening |
| PSEN2presenilin 2 | Soms (5–29%) | In 1 aandoening |
| RNF125ring finger protein 125 | Soms (5–29%) | In 1 aandoening |
| SLC4A3solute carrier family 4 member 3 | Soms (5–29%) | In 2 aandoeningen |
| SLC6A5solute carrier family 6 member 5 | Soms (5–29%) | In 1 aandoening |
| SRSF2serine and arginine rich splicing factor 2 | Soms (5–29%) | In 1 aandoening |
| TET2tet methylcytosine dioxygenase 2 | Soms (5–29%) | In 1 aandoening |
| THPOthrombopoietin | Soms (5–29%) | In 1 aandoening |
| TLL1tolloid like 1 | Soms (5–29%) | In 2 aandoeningen |
| TNFSF4TNF superfamily member 4 | Soms (5–29%) | In 1 aandoening |
| TNNC1troponin C1, slow skeletal and cardiac type | Soms (5–29%) | In 1 aandoening |
| TRIM63tripartite motif containing 63 | Soms (5–29%) | In 1 aandoening |
| UCP2uncoupling protein 2 | Soms (5–29%) | In 1 aandoening |
| ZNF365zinc finger protein 365 | Soms (5–29%) | In 1 aandoening |
| AKT1AKT serine/threonine kinase 1 | Zelden (1–4%) | In 1 aandoening |
| BAP1BRCA1 associated deubiquitinase 1 | Zelden (1–4%) | In 1 aandoening |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Zelden (1–4%) | In 1 aandoening |
| CLCNKBchloride voltage-gated channel Kb | Zelden (1–4%) | In 1 aandoening |
| FLNCfilamin C | Zelden (1–4%) | In 1 aandoening |
| KIF20Akinesin family member 20A | Zelden (1–4%) | In 1 aandoening |
| MYH6myosin heavy chain 6 | Zelden (1–4%) | In 1 aandoening |
| MYPNmyopalladin | Zelden (1–4%) | In 1 aandoening |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Zelden (1–4%) | In 1 aandoening |
| PDGFBplatelet derived growth factor subunit B | Zelden (1–4%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Zelden (1–4%) | In 1 aandoening |
| SLC12A3solute carrier family 12 member 3 | Zelden (1–4%) | In 1 aandoening |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Zelden (1–4%) | In 1 aandoening |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Zelden (1–4%) | In 1 aandoening |
| SMOsmoothened, frizzled class receptor | Zelden (1–4%) | In 1 aandoening |
| SUFUSUFU negative regulator of hedgehog signaling | Zelden (1–4%) | In 1 aandoening |
| TBX20T-box transcription factor 20 | Zelden (1–4%) | In 1 aandoening |
| TERTtelomerase reverse transcriptase | Zelden (1–4%) | In 1 aandoening |
| TNNI3troponin I3, cardiac type | Zelden (1–4%) | In 1 aandoening |
| TNNT2troponin T2, cardiac type | Zelden (1–4%) | In 1 aandoening |
| TRAF7TNF receptor associated factor 7 | Zelden (1–4%) | 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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