Kenmerk
Joint stiffness
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Samenvatting
- Ook bekend als
- Stiff joint, Stiff joints
- Lichaamssysteem
- Abnormality of the musculoskeletal system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Joint stiffness 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 |
|---|---|---|
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Altijd | In 2 aandoeningen |
| ADAMTSL2ADAMTS like 2 | Altijd | In 1 aandoening |
| BANF1barrier to autointegration nuclear assembly factor 1 | Altijd | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Altijd | In 4 aandoeningen |
| GLB1galactosidase beta 1 | Altijd | In 3 aandoeningen |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Altijd | In 1 aandoening |
| IDUAalpha-L-iduronidase | Altijd | In 3 aandoeningen |
| KRT83keratin 83 | Altijd | In 1 aandoening |
| LMNAlamin A/C | Altijd | In 4 aandoeningen |
| SMAD4SMAD family member 4 | Altijd | In 2 aandoeningen |
| UBAP2Lubiquitin associated protein 2 like | Altijd | In 1 aandoening |
| ADAMTSL4ADAMTS like 4 | Heel vaak (80–99%) | In 1 aandoening |
| ANTXR2ANTXR cell adhesion molecule 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| ATAD1ATPase family AAA domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| BMPR1Bbone morphogenetic protein receptor type 1B | Heel vaak (80–99%) | In 1 aandoening |
| EMDemerin | Heel vaak (80–99%) | In 1 aandoening |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC5ERCC excision repair 5, endonuclease | Heel vaak (80–99%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Heel vaak (80–99%) | In 1 aandoening |
| FBN1fibrillin 1 | Heel vaak (80–99%) | In 6 aandoeningen |
| FBN2fibrillin 2 | Heel vaak (80–99%) | In 1 aandoening |
| FGF9fibroblast growth factor 9 | Heel vaak (80–99%) | In 1 aandoening |
| FHL1four and a half LIM domains 1 | Heel vaak (80–99%) | In 1 aandoening |
| FKBP10FKBP prolyl isomerase 10 | Heel vaak (80–99%) | In 2 aandoeningen |
| GDF5growth differentiation factor 5 | Heel vaak (80–99%) | In 3 aandoeningen |
| GDF6growth differentiation factor 6 | Heel vaak (80–99%) | In 1 aandoening |
| GLRA1glycine receptor alpha 1 | Heel vaak (80–99%) | In 1 aandoening |
| GLRBglycine receptor beta | Heel vaak (80–99%) | In 1 aandoening |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Heel vaak (80–99%) | In 1 aandoening |
| GPHNgephyrin | Heel vaak (80–99%) | In 1 aandoening |
| HGDhomogentisate 1,2-dioxygenase | Heel vaak (80–99%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Heel vaak (80–99%) | In 2 aandoeningen |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| IRF6interferon regulatory factor 6 | Heel vaak (80–99%) | In 1 aandoening |
| LSSlanosterol synthase | Heel vaak (80–99%) | In 1 aandoening |
| MACROH2A1macroH2A.1 histone | Heel vaak (80–99%) | In 1 aandoening |
| MFN2mitofusin 2 | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 147 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| MMP13matrix metallopeptidase 13 | Heel vaak (80–99%) | In 1 aandoening |
| MMP9matrix metallopeptidase 9 | Heel vaak (80–99%) | In 1 aandoening |
| MYH3myosin heavy chain 3 | Heel vaak (80–99%) | In 3 aandoeningen |
| NALCNsodium leak channel, non-selective | Heel vaak (80–99%) | In 3 aandoeningen |
| NOGnoggin | Heel vaak (80–99%) | In 1 aandoening |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Heel vaak (80–99%) | In 1 aandoening |
| PAX3paired box 3 | Heel vaak (80–99%) | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| PITX1paired like homeodomain 1 | Heel vaak (80–99%) | In 1 aandoening |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Heel vaak (80–99%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAB18RAB18, member RAS oncogene family | Heel vaak (80–99%) | In 1 aandoening |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| SALL4spalt like transcription factor 4 | Heel vaak (80–99%) | In 1 aandoening |
| SHOXSHOX homeobox | Heel vaak (80–99%) | In 1 aandoening |
| SLC6A5solute carrier family 6 member 5 | Heel vaak (80–99%) | In 1 aandoening |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| TBC1D20TBC1 domain family member 20 | Heel vaak (80–99%) | In 1 aandoening |
| TBX5T-box transcription factor 5 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM43transmembrane protein 43 | Heel vaak (80–99%) | In 1 aandoening |
| TNNI2troponin I2, fast skeletal type | Heel vaak (80–99%) | In 2 aandoeningen |
| TNNT3troponin T3, fast skeletal type | Heel vaak (80–99%) | In 2 aandoeningen |
| TPM2tropomyosin 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| ACTBactin beta | Vaak (30–79%) | In 1 aandoening |
| ACTG1actin gamma 1 | Vaak (30–79%) | In 1 aandoening |
| ANKRD55ankyrin repeat domain 55 | Vaak (30–79%) | In 1 aandoening |
| ASPAaspartoacylase | Vaak (30–79%) | In 1 aandoening |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Vaak (30–79%) | In 1 aandoening |
| BRD4bromodomain containing 4 | Vaak (30–79%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Vaak (30–79%) | In 1 aandoening |
| CBScystathionine beta-synthase | Vaak (30–79%) | In 1 aandoening |
| CD247CD247 molecule | Vaak (30–79%) | In 1 aandoening |
| CHST11carbohydrate sulfotransferase 11 | Vaak (30–79%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Vaak (30–79%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Vaak (30–79%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Vaak (30–79%) | In 1 aandoening |
| ELNelastin | Vaak (30–79%) | In 1 aandoening |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Vaak (30–79%) | In 1 aandoening |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Vaak (30–79%) | In 1 aandoening |
| FUZfuzzy planar cell polarity protein | Vaak (30–79%) | In 1 aandoening |
| GTF2Igeneral transcription factor IIi | Vaak (30–79%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| GUSBglucuronidase beta | Vaak (30–79%) | In 2 aandoeningen |
| HDAC8histone deacetylase 8 | Vaak (30–79%) | In 1 aandoening |
| HPGD15-hydroxyprostaglandin dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Vaak (30–79%) | In 1 aandoening |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Vaak (30–79%) | In 1 aandoening |
| IL2RAinterleukin 2 receptor subunit alpha | Vaak (30–79%) | In 1 aandoening |
| IL2RBinterleukin 2 receptor subunit beta | 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 |
| MAU2MAU2 sister chromatid cohesion factor | Vaak (30–79%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Vaak (30–79%) | In 1 aandoening |
| MYBPC1myosin binding protein C1 | Vaak (30–79%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Vaak (30–79%) | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Vaak (30–79%) | In 1 aandoening |
| NPR2natriuretic peptide receptor 2 | Vaak (30–79%) | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Vaak (30–79%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| PTH1Rparathyroid hormone 1 receptor | Vaak (30–79%) | In 1 aandoening |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Vaak (30–79%) | In 1 aandoening |
| RAD21RAD21 cohesin complex component | Vaak (30–79%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | Vaak (30–79%) | In 1 aandoening |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Vaak (30–79%) | In 1 aandoening |
| SF3B4splicing factor 3b subunit 4 | Vaak (30–79%) | In 1 aandoening |
| SH3PXD2BSH3 and PX domains 2B | Vaak (30–79%) | In 1 aandoening |
| SLC26A2solute carrier family 26 member 2 | Vaak (30–79%) | In 2 aandoeningen |
| SMC1Astructural maintenance of chromosomes 1A | Vaak (30–79%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Vaak (30–79%) | In 1 aandoening |
| STAT4signal transducer and activator of transcription 4 | Vaak (30–79%) | In 1 aandoening |
| STING1stimulator of interferon response cGAMP interactor 1 | Vaak (30–79%) | In 1 aandoening |
| STX1Asyntaxin 1A | Vaak (30–79%) | In 1 aandoening |
| SUMF1sulfatase modifying factor 1 | Vaak (30–79%) | In 1 aandoening |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Vaak (30–79%) | In 1 aandoening |
| TBL2transducin beta like 2 | Vaak (30–79%) | In 1 aandoening |
| TGDSTDP-glucose 4,6-dehydratase | Vaak (30–79%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Vaak (30–79%) | In 1 aandoening |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Vaak (30–79%) | In 1 aandoening |
| VANGL1VANGL planar cell polarity protein 1 | Vaak (30–79%) | In 1 aandoening |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Vaak (30–79%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Vaak (30–79%) | In 1 aandoening |
| ACTG2actin gamma 2, smooth muscle | Soms (5–29%) | In 1 aandoening |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Soms (5–29%) | In 1 aandoening |
| AGAaspartylglucosaminidase | Soms (5–29%) | In 1 aandoening |
| AKT1AKT serine/threonine kinase 1 | Soms (5–29%) | In 1 aandoening |
| ANKHANKH inorganic pyrophosphate transport regulator | Soms (5–29%) | In 1 aandoening |
| ATRXATRX chromatin remodeler | Soms (5–29%) | In 1 aandoening |
| BMP6bone morphogenetic protein 6 | Soms (5–29%) | In 1 aandoening |
| CASZ1castor zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| CCN2cellular communication network factor 2 | Soms (5–29%) | In 1 aandoening |
| CHMP1Acharged multivesicular body protein 1A | Soms (5–29%) | In 1 aandoening |
| CISD2CDGSH iron sulfur domain 2 | Soms (5–29%) | In 1 aandoening |
| COMPcartilage oligomeric matrix protein | Soms (5–29%) | In 3 aandoeningen |
| EPG5ectopic P-granules 5 autophagy tethering factor | Soms (5–29%) | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Soms (5–29%) | In 1 aandoening |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Soms (5–29%) | In 1 aandoening |
| HFEhomeostatic iron regulator | Soms (5–29%) | In 1 aandoening |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Soms (5–29%) | In 1 aandoening |
| INPPL1inositol polyphosphate phosphatase like 1 | Soms (5–29%) | In 1 aandoening |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Soms (5–29%) | In 1 aandoening |
| L1CAML1 cell adhesion molecule | Soms (5–29%) | In 1 aandoening |
| LEMD3LEM domain containing 3 | Soms (5–29%) | In 2 aandoeningen |
| LTBP3latent transforming growth factor beta binding protein 3 | Soms (5–29%) | In 1 aandoening |
| LUZP1leucine zipper protein 1 | Soms (5–29%) | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Soms (5–29%) | In 1 aandoening |
| MATN3matrilin 3 | Soms (5–29%) | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Soms (5–29%) | In 1 aandoening |
| MMP23Bmatrix metallopeptidase 23B | Soms (5–29%) | In 1 aandoening |
| MTX2metaxin 2 | Soms (5–29%) | In 1 aandoening |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Soms (5–29%) | In 1 aandoening |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Soms (5–29%) | In 1 aandoening |
| PDPNpodoplanin | Soms (5–29%) | In 1 aandoening |
| PNKDPNKD metallo-beta-lactamase domain containing | Soms (5–29%) | In 1 aandoening |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Soms (5–29%) | In 1 aandoening |
| PRDM16PR/SET domain 16 | Soms (5–29%) | In 1 aandoening |
| PRKCZprotein kinase C zeta | Soms (5–29%) | In 1 aandoening |
| PRRT2proline rich transmembrane protein 2 | Soms (5–29%) | In 1 aandoening |
| RAI1retinoic acid induced 1 | Soms (5–29%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Soms (5–29%) | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Soms (5–29%) | In 1 aandoening |
| SKISKI proto-oncogene | Soms (5–29%) | In 2 aandoeningen |
| SPENspen family transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| TNFRSF11BTNF receptor superfamily member 11b | Soms (5–29%) | In 1 aandoening |
| UBE4Bubiquitination factor E4B | Soms (5–29%) | In 1 aandoening |
| VAPBVAMP associated protein B and C | Soms (5–29%) | In 1 aandoening |
| WFS1wolframin ER transmembrane glycoprotein | Soms (5–29%) | In 1 aandoening |
| WRNWRN RecQ like helicase | Soms (5–29%) | In 1 aandoening |
| ZMPSTE24zinc metallopeptidase STE24 | Soms (5–29%) | In 1 aandoening |
| FLNAfilamin A | Zelden (1–4%) | In 1 aandoening |
| PTBP1polypyrimidine tract binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| ARSBarylsulfatase B | Niet vastgelegd | In 1 aandoening |
| ASPNasporin | Niet vastgelegd | In 1 aandoening |
| CCN6cellular communication network factor 6 | Niet vastgelegd | In 1 aandoening |
| CD244CD244 molecule | Niet vastgelegd | In 1 aandoening |
| CIITAclass II major histocompatibility complex transactivator | Niet vastgelegd | In 1 aandoening |
| GNSglucosamine (N-acetyl)-6-sulfatase | Niet vastgelegd | In 1 aandoening |
| IL10interleukin 10 | Niet vastgelegd | In 1 aandoening |
| NAGLUN-acetyl-alpha-glucosaminidase | Niet vastgelegd | In 1 aandoening |
| NFKBIL1NFKB inhibitor like 1 | Niet vastgelegd | In 1 aandoening |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Niet vastgelegd | In 1 aandoening |
| PTF1Apancreas associated transcription factor 1a | Niet vastgelegd | In 1 aandoening |
| SGSHN-sulfoglucosamine sulfohydrolase | Niet vastgelegd | In 1 aandoening |
| SLC22A4solute carrier family 22 member 4 | 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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