Kenmerk
Thromboembolic stroke
A cerebrovascular accident (stroke) that occurs because of thromboembolism.
Samenvatting
- Lichaamssysteem
- Abnormality of blood and blood-forming tissues
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Thromboembolic stroke 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 |
|---|---|---|
| MAN2B2mannosidase alpha class 2B member 2 | Altijd | In 1 aandoening |
| ADA2adenosine deaminase 2 | Heel vaak (80–99%) | In 1 aandoening |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Vaak (30–79%) | In 2 aandoeningen |
| ABCC9ATP binding cassette subfamily C member 9 | Soms (5–29%) | In 2 aandoeningen |
| ACTC1actin alpha cardiac muscle 1 | Soms (5–29%) | In 1 aandoening |
| ACTN2actinin alpha 2 | Soms (5–29%) | In 1 aandoening |
| ANKRD1ankyrin repeat domain 1 | Soms (5–29%) | In 1 aandoening |
| BAG3BAG cochaperone 3 | Soms (5–29%) | In 1 aandoening |
| BAG5BAG cochaperone 5 | Soms (5–29%) | In 1 aandoening |
| CAP2cyclase associated actin cytoskeleton regulatory protein 2 | Soms (5–29%) | In 1 aandoening |
| CRYABcrystallin alpha B | Soms (5–29%) | In 1 aandoening |
| CSRP3cysteine and glycine rich protein 3 | Soms (5–29%) | In 1 aandoening |
| DESdesmin | Soms (5–29%) | In 1 aandoening |
| DMDdystrophin | Soms (5–29%) | In 1 aandoening |
| DOLKdolichol kinase | Soms (5–29%) | In 1 aandoening |
| DSG2desmoglein 2 | Soms (5–29%) | In 1 aandoening |
| DSPdesmoplakin | Soms (5–29%) | In 1 aandoening |
| FHL2four and a half LIM domains 2 | Soms (5–29%) | In 1 aandoening |
| FKTNfukutin | Soms (5–29%) | In 1 aandoening |
| FLNCfilamin C | Soms (5–29%) | In 1 aandoening |
| GATA4GATA binding protein 4 | Soms (5–29%) | In 1 aandoening |
| GATA5GATA binding protein 5 | Soms (5–29%) | In 1 aandoening |
| GATA6GATA binding protein 6 | Soms (5–29%) | In 1 aandoening |
| GATAD1GATA zinc finger domain containing 1 | Soms (5–29%) | In 1 aandoening |
| GET3guided entry of tail-anchored proteins factor 3, ATPase | Soms (5–29%) | In 1 aandoening |
| GJA5gap junction protein alpha 5 | Soms (5–29%) | In 1 aandoening |
| HAND2heart and neural crest derivatives expressed 2 | Soms (5–29%) | In 1 aandoening |
| JPH2junctophilin 2 | Soms (5–29%) | In 1 aandoening |
| KCNA5potassium voltage-gated channel subfamily A member 5 | Soms (5–29%) | In 1 aandoening |
| KCNE1potassium voltage-gated channel subfamily E regulatory subunit 1 | Soms (5–29%) | In 1 aandoening |
| KCNE2potassium voltage-gated channel subfamily E regulatory subunit 2 | Soms (5–29%) | In 1 aandoening |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Soms (5–29%) | In 1 aandoening |
| KCNJ3potassium inwardly rectifying channel subfamily J member 3 | Soms (5–29%) | In 1 aandoening |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Soms (5–29%) | In 1 aandoening |
| LAMA4laminin subunit alpha 4 | Soms (5–29%) | In 1 aandoening |
| LDB3LIM domain binding 3 | Soms (5–29%) | In 1 aandoening |
| LMNAlamin A/C | Soms (5–29%) | In 1 aandoening |
| LMOD2leiomodin 2 | Soms (5–29%) | In 1 aandoening |
| MTHFRmethylenetetrahydrofolate reductase | Soms (5–29%) | In 1 aandoening |
| MYBPC3myosin binding protein C3 | Soms (5–29%) | In 1 aandoening |
Toon nog 38 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| MYH6myosin heavy chain 6 | Soms (5–29%) | In 1 aandoening |
| MYH7myosin heavy chain 7 | Soms (5–29%) | In 1 aandoening |
| MYL4myosin light chain 4 | Soms (5–29%) | In 1 aandoening |
| MYPNmyopalladin | Soms (5–29%) | In 1 aandoening |
| NEXNnexilin F-actin binding protein | Soms (5–29%) | In 1 aandoening |
| NKX2-5NK2 homeobox 5 | Soms (5–29%) | In 1 aandoening |
| NKX2-6NK2 homeobox 6 | Soms (5–29%) | In 1 aandoening |
| NPPAnatriuretic peptide A | Soms (5–29%) | In 1 aandoening |
| NRAPnebulin related anchoring protein | Soms (5–29%) | In 1 aandoening |
| NUP155nucleoporin 155 | Soms (5–29%) | In 1 aandoening |
| PITX2paired like homeodomain 2 | Soms (5–29%) | In 1 aandoening |
| PLNphospholamban | Soms (5–29%) | In 1 aandoening |
| PPCSphosphopantothenoylcysteine synthetase | Soms (5–29%) | In 1 aandoening |
| PRDM16PR/SET domain 16 | Soms (5–29%) | In 1 aandoening |
| PSEN1presenilin 1 | Soms (5–29%) | In 1 aandoening |
| PSEN2presenilin 2 | Soms (5–29%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Soms (5–29%) | In 1 aandoening |
| RBM20RNA binding motif protein 20 | Soms (5–29%) | In 1 aandoening |
| RPL3Lribosomal protein L3 like | Soms (5–29%) | In 1 aandoening |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Soms (5–29%) | In 1 aandoening |
| SCN2Bsodium voltage-gated channel beta subunit 2 | Soms (5–29%) | In 1 aandoening |
| SCN3Bsodium voltage-gated channel beta subunit 3 | Soms (5–29%) | In 1 aandoening |
| SCN4Bsodium voltage-gated channel beta subunit 4 | Soms (5–29%) | In 1 aandoening |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Soms (5–29%) | In 2 aandoeningen |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Soms (5–29%) | In 1 aandoening |
| SGCDsarcoglycan delta | Soms (5–29%) | In 1 aandoening |
| TAF1ATATA-box binding protein associated factor, RNA polymerase I subunit A | Soms (5–29%) | In 1 aandoening |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Soms (5–29%) | In 1 aandoening |
| TCAPtitin-cap | Soms (5–29%) | In 1 aandoening |
| TMPOthymopoietin | Soms (5–29%) | In 1 aandoening |
| TNNC1troponin C1, slow skeletal and cardiac type | Soms (5–29%) | In 1 aandoening |
| TNNI3troponin I3, cardiac type | Soms (5–29%) | In 1 aandoening |
| TNNT2troponin T2, cardiac type | Soms (5–29%) | In 1 aandoening |
| TPM1tropomyosin 1 | Soms (5–29%) | In 1 aandoening |
| TTNtitin | Soms (5–29%) | In 2 aandoeningen |
| TXNRD2thioredoxin reductase 2 | Soms (5–29%) | In 1 aandoening |
| VCLvinculin | Soms (5–29%) | In 1 aandoening |
| VEZF1vascular endothelial zinc finger 1 | Soms (5–29%) | 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.
Bredere kenmerken
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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