Kenmerk
Pins and needles feeling
Klinische naam: Paresthesia
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Samenvatting
- Ook bekend als
- Tingling, Paresthesias
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Pins and needles feeling 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 |
|---|---|---|
| LAMB1laminin subunit beta 1 | Altijd | In 1 aandoening |
| RAB32RAB32, member RAS oncogene family | Altijd | In 1 aandoening |
| APPamyloid beta precursor protein | Heel vaak (80–99%) | In 2 aandoeningen |
| CALRcalreticulin | Heel vaak (80–99%) | In 1 aandoening |
| CASRcalcium sensing receptor | Heel vaak (80–99%) | In 2 aandoeningen |
| CTDP1CTD phosphatase 1 | Heel vaak (80–99%) | In 1 aandoening |
| GNA11G protein subunit alpha 11 | Heel vaak (80–99%) | In 2 aandoeningen |
| JAK2Janus kinase 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| LIFRLIF receptor subunit alpha | Heel vaak (80–99%) | In 1 aandoening |
| MPLMPL proto-oncogene, thrombopoietin receptor | Heel vaak (80–99%) | In 2 aandoeningen |
| SERPING1serpin family G member 1 | Heel vaak (80–99%) | In 1 aandoening |
| SH2B3SH2B adaptor protein 3 | Heel vaak (80–99%) | In 1 aandoening |
| SLC19A2solute carrier family 19 member 2 | Heel vaak (80–99%) | In 1 aandoening |
| TET2tet methylcytosine dioxygenase 2 | Heel vaak (80–99%) | In 1 aandoening |
| TP53tumor protein p53 | Heel vaak (80–99%) | In 1 aandoening |
| AIPAHR interacting HSP90 co-chaperone | Vaak (30–79%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Vaak (30–79%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Vaak (30–79%) | In 2 aandoeningen |
| CCM2CCM2 scaffold protein | Vaak (30–79%) | In 1 aandoening |
| GBE11,4-alpha-glucan branching enzyme 1 | Vaak (30–79%) | In 1 aandoening |
| GPR101G protein-coupled receptor 101 | Vaak (30–79%) | In 1 aandoening |
| KRIT1KRIT1 ankyrin repeat containing | Vaak (30–79%) | In 1 aandoening |
| KRT14keratin 14 | Vaak (30–79%) | In 1 aandoening |
| KRT5keratin 5 | Vaak (30–79%) | In 1 aandoening |
| LIG3DNA ligase 3 | Vaak (30–79%) | In 1 aandoening |
| LITAFlipopolysaccharide induced TNF factor | Vaak (30–79%) | In 1 aandoening |
| MFN2mitofusin 2 | Vaak (30–79%) | In 2 aandoeningen |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Vaak (30–79%) | In 1 aandoening |
| PDCD10programmed cell death 10 | Vaak (30–79%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Vaak (30–79%) | In 2 aandoeningen |
| PMP22peripheral myelin protein 22 | Vaak (30–79%) | In 2 aandoeningen |
| POLGDNA polymerase gamma, catalytic subunit | Vaak (30–79%) | In 2 aandoeningen |
| PRNPprion protein (Kanno blood group) | Vaak (30–79%) | In 1 aandoening |
| PRRT2proline rich transmembrane protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| RRM1ribonucleotide reductase catalytic subunit M1 | Vaak (30–79%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Vaak (30–79%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Vaak (30–79%) | In 1 aandoening |
| SCYL1SCY1 like pseudokinase 1 | Vaak (30–79%) | In 2 aandoeningen |
| SEPTIN9septin 9 | Vaak (30–79%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Vaak (30–79%) | In 3 aandoeningen |
Toon nog 87 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| THPOthrombopoietin | Vaak (30–79%) | In 1 aandoening |
| TK2thymidine kinase 2 | Vaak (30–79%) | In 1 aandoening |
| TOP3ADNA topoisomerase III alpha | Vaak (30–79%) | In 1 aandoening |
| TRIM32tripartite motif containing 32 | Vaak (30–79%) | In 1 aandoening |
| TYMPthymidine phosphorylase | Vaak (30–79%) | In 1 aandoening |
| ATMATM serine/threonine kinase | Soms (5–29%) | In 1 aandoening |
| ATXN1ataxin 1 | Soms (5–29%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| C4Acomplement C4A (Chido/Rodgers blood group) | Soms (5–29%) | In 1 aandoening |
| CBLIFcobalamin binding intrinsic factor | Soms (5–29%) | In 2 aandoeningen |
| CCND1cyclin D1 | Soms (5–29%) | In 1 aandoening |
| CCR1C-C motif chemokine receptor 1 | Soms (5–29%) | In 1 aandoening |
| CHEK2checkpoint kinase 2 | Soms (5–29%) | In 1 aandoening |
| COQ6coenzyme Q6, monooxygenase | Soms (5–29%) | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Soms (5–29%) | In 1 aandoening |
| EPCAMepithelial cell adhesion molecule | Soms (5–29%) | In 1 aandoening |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Soms (5–29%) | In 1 aandoening |
| ERLIN2ER lipid raft associated 2 | Soms (5–29%) | In 1 aandoening |
| FASFas cell surface death receptor | Soms (5–29%) | In 1 aandoening |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Soms (5–29%) | In 1 aandoening |
| GNA14G protein subunit alpha 14 | Soms (5–29%) | In 1 aandoening |
| GNASGNAS complex locus | Soms (5–29%) | In 4 aandoeningen |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Soms (5–29%) | In 1 aandoening |
| HINT1histidine triad nucleotide binding protein 1 | Soms (5–29%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Soms (5–29%) | In 2 aandoeningen |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Soms (5–29%) | In 2 aandoeningen |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Soms (5–29%) | In 1 aandoening |
| IFNGR1interferon gamma receptor 1 | Soms (5–29%) | In 1 aandoening |
| IL10interleukin 10 | Soms (5–29%) | In 1 aandoening |
| IL12Ainterleukin 12A | Soms (5–29%) | In 1 aandoening |
| IL12A-AS1IL12A antisense RNA 1 | Soms (5–29%) | In 1 aandoening |
| IL23Rinterleukin 23 receptor | Soms (5–29%) | In 1 aandoening |
| KIF5Akinesin family member 5A | Soms (5–29%) | In 1 aandoening |
| KLRC4killer cell lectin like receptor C4 | Soms (5–29%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Soms (5–29%) | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Soms (5–29%) | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Soms (5–29%) | In 1 aandoening |
| MEN1menin 1 | Soms (5–29%) | In 1 aandoening |
| MLH1mutL homolog 1 | Soms (5–29%) | In 1 aandoening |
| MSH2mutS homolog 2 | Soms (5–29%) | In 1 aandoening |
| MSH6mutS homolog 6 | Soms (5–29%) | In 1 aandoening |
| MUTYHmutY DNA glycosylase | Soms (5–29%) | In 1 aandoening |
| NAGAalpha-N-acetylgalactosaminidase | Soms (5–29%) | In 1 aandoening |
| NEFLneurofilament light chain | Soms (5–29%) | In 1 aandoening |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Soms (5–29%) | In 1 aandoening |
| NPATnuclear protein, coactivator of histone transcription | Soms (5–29%) | In 1 aandoening |
| NPRL2NPR2 like, GATOR1 complex subunit | Soms (5–29%) | In 1 aandoening |
| NPRL3NPR3 like, GATOR1 complex subunit | Soms (5–29%) | In 1 aandoening |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| PMS1PMS1 homolog 1, mismatch repair system component | Soms (5–29%) | In 1 aandoening |
| PMS2PMS1 homolog 2, mismatch repair system component | Soms (5–29%) | In 1 aandoening |
| POLD1DNA polymerase delta 1, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| POLEDNA polymerase epsilon, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Soms (5–29%) | In 1 aandoening |
| RPS20ribosomal protein S20 | Soms (5–29%) | In 1 aandoening |
| SBF2SET binding factor 2 | Soms (5–29%) | In 1 aandoening |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Soms (5–29%) | In 1 aandoening |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Soms (5–29%) | In 1 aandoening |
| SEMA4Asemaphorin 4A | Soms (5–29%) | In 1 aandoening |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Soms (5–29%) | In 1 aandoening |
| SRPX2sushi repeat containing protein X-linked 2 | Soms (5–29%) | In 1 aandoening |
| STAT4signal transducer and activator of transcription 4 | Soms (5–29%) | In 1 aandoening |
| STX16syntaxin 16 | Soms (5–29%) | In 1 aandoening |
| TGFBR2transforming growth factor beta receptor 2 | Soms (5–29%) | In 1 aandoening |
| TLR4toll like receptor 4 | Soms (5–29%) | In 1 aandoening |
| TNFRSF1ATNF receptor superfamily member 1A | Soms (5–29%) | In 1 aandoening |
| UBAC2UBA domain containing 2 | Soms (5–29%) | In 1 aandoening |
| VCPvalosin containing protein | Soms (5–29%) | In 1 aandoening |
| VWA1von Willebrand factor A domain containing 1 | Soms (5–29%) | In 1 aandoening |
| YY1YY1 transcription factor | Soms (5–29%) | In 1 aandoening |
| CLCNKBchloride voltage-gated channel Kb | Zelden (1–4%) | In 1 aandoening |
| GATA1GATA binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| SLC12A3solute carrier family 12 member 3 | Zelden (1–4%) | In 2 aandoeningen |
| TRAPPC2trafficking protein particle complex subunit 2 | Zelden (1–4%) | In 1 aandoening |
| URODuroporphyrinogen decarboxylase | Zelden (1–4%) | In 1 aandoening |
| UROSuroporphyrinogen III synthase | Zelden (1–4%) | In 1 aandoening |
| ALADaminolevulinate dehydratase | Niet vastgelegd | In 1 aandoening |
| ATL1atlastin GTPase 1 | Niet vastgelegd | In 1 aandoening |
| CUBNcubilin | Niet vastgelegd | In 1 aandoening |
| GLAgalactosidase alpha | Niet vastgelegd | In 1 aandoening |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Niet vastgelegd | In 1 aandoening |
| HMBShydroxymethylbilane synthase | Niet vastgelegd | In 1 aandoening |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Niet vastgelegd | In 1 aandoening |
| MTHFRmethylenetetrahydrofolate reductase | Niet vastgelegd | In 1 aandoening |
| NAGLUN-acetyl-alpha-glucosaminidase | Niet vastgelegd | In 1 aandoening |
| SLC12A1solute carrier family 12 member 1 | 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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