Kenmerk
Joint pain
Klinische naam: Arthralgia
Joint pain.
Samenvatting
- Ook bekend als
- Joint pains, Arthralgias
- Lichaamssysteem
- Constitutional symptom
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Joint pain 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 |
|---|---|---|
| AP1S3adaptor related protein complex 1 subunit sigma 3 | Altijd | In 1 aandoening |
| ASAH1N-acylsphingosine amidohydrolase 1 | Altijd | In 2 aandoeningen |
| C1QBcomplement C1q B chain | Altijd | In 1 aandoening |
| CD81CD81 molecule | Altijd | In 1 aandoening |
| COL11A2collagen type XI alpha 2 chain | Altijd | In 3 aandoeningen |
| COL2A1collagen type II alpha 1 chain | Altijd | In 8 aandoeningen |
| FLNAfilamin A | Altijd | In 1 aandoening |
| GNB2G protein subunit beta 2 | Altijd | In 1 aandoening |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Altijd | In 1 aandoening |
| IKZF2IKAROS family zinc finger 2 | Altijd | In 1 aandoening |
| IL36RNinterleukin 36 receptor antagonist | Altijd | In 1 aandoening |
| IRF4interferon regulatory factor 4 | Altijd | In 2 aandoeningen |
| LBRlamin B receptor | Altijd | In 1 aandoening |
| LPIN2lipin 2 | Altijd | In 2 aandoeningen |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Altijd | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Altijd | In 7 aandoeningen |
| MMP2matrix metallopeptidase 2 | Altijd | In 1 aandoening |
| NLRP3NLR family pyrin domain containing 3 | Altijd | In 6 aandoeningen |
| OTULINOTU deubiquitinase with linear linkage specificity | Altijd | In 1 aandoening |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Altijd | In 1 aandoening |
| PLCG2phospholipase C gamma 2 | Altijd | In 1 aandoening |
| POMPproteasome maturation protein | Altijd | In 1 aandoening |
| PSMB8proteasome 20S subunit beta 8 | Altijd | In 1 aandoening |
| SOSTsclerostin | Altijd | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Altijd | In 1 aandoening |
| AIPAHR interacting HSP90 co-chaperone | Heel vaak (80–99%) | In 1 aandoening |
| ANKHANKH inorganic pyrophosphate transport regulator | Heel vaak (80–99%) | In 1 aandoening |
| ANTXR2ANTXR cell adhesion molecule 2 | Heel vaak (80–99%) | In 1 aandoening |
| ATP7BATPase copper transporting beta | Heel vaak (80–99%) | In 1 aandoening |
| CCN2cellular communication network factor 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| CD4CD4 molecule | Heel vaak (80–99%) | In 1 aandoening |
| CHST3carbohydrate sulfotransferase 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| COL11A1collagen type XI alpha 1 chain | Heel vaak (80–99%) | In 1 aandoening |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Heel vaak (80–99%) | In 1 aandoening |
| DDB2damage specific DNA binding protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC5ERCC excision repair 5, endonuclease | Heel vaak (80–99%) | In 1 aandoening |
| GLAgalactosidase alpha | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 162 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| GPR101G protein-coupled receptor 101 | Heel vaak (80–99%) | In 2 aandoeningen |
| HGDhomogentisate 1,2-dioxygenase | Heel vaak (80–99%) | In 2 aandoeningen |
| HLA-Bmajor histocompatibility complex, class I, B | Heel vaak (80–99%) | In 4 aandoeningen |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Heel vaak (80–99%) | In 1 aandoening |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| IL6interleukin 6 | Heel vaak (80–99%) | In 1 aandoening |
| LACC1laccase domain multifunctional purine nucleosidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| MFN2mitofusin 2 | Heel vaak (80–99%) | In 1 aandoening |
| MIFmacrophage migration inhibitory factor | Heel vaak (80–99%) | In 1 aandoening |
| MVKmevalonate kinase | Heel vaak (80–99%) | In 3 aandoeningen |
| NLRP12NLR family pyrin domain containing 12 | Heel vaak (80–99%) | In 1 aandoening |
| NOD2nucleotide binding oligomerization domain containing 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| PLAAT3phospholipase A and acyltransferase 3 | Heel vaak (80–99%) | In 1 aandoening |
| PRTN3proteinase 3 | Heel vaak (80–99%) | In 1 aandoening |
| PTH1Rparathyroid hormone 1 receptor | Heel vaak (80–99%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Heel vaak (80–99%) | In 3 aandoeningen |
| SEPTIN9septin 9 | Heel vaak (80–99%) | In 1 aandoening |
| SLC26A2solute carrier family 26 member 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| TNFRSF11BTNF receptor superfamily member 11b | Heel vaak (80–99%) | In 1 aandoening |
| TREM2triggering receptor expressed on myeloid cells 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Heel vaak (80–99%) | In 1 aandoening |
| VCPvalosin containing protein | Heel vaak (80–99%) | In 1 aandoening |
| XPAXPA, DNA damage recognition and repair factor | Heel vaak (80–99%) | In 1 aandoening |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Heel vaak (80–99%) | In 1 aandoening |
| ABCG5ATP binding cassette subfamily G member 5 | Vaak (30–79%) | In 2 aandoeningen |
| ABCG8ATP binding cassette subfamily G member 8 | Vaak (30–79%) | In 3 aandoeningen |
| ADA2adenosine deaminase 2 | Vaak (30–79%) | In 1 aandoening |
| ANKRD55ankyrin repeat domain 55 | Vaak (30–79%) | In 1 aandoening |
| ARSBarylsulfatase B | Vaak (30–79%) | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | 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 |
| C1Rcomplement C1r | Vaak (30–79%) | In 1 aandoening |
| C1Scomplement C1s | Vaak (30–79%) | In 1 aandoening |
| C4Acomplement C4A (Chido/Rodgers blood group) | Vaak (30–79%) | In 1 aandoening |
| CAV1caveolin 1 | Vaak (30–79%) | In 1 aandoening |
| CBLCbl proto-oncogene | Vaak (30–79%) | In 1 aandoening |
| CCN6cellular communication network factor 6 | Vaak (30–79%) | In 1 aandoening |
| CCR1C-C motif chemokine receptor 1 | Vaak (30–79%) | In 1 aandoening |
| CCR6C-C motif chemokine receptor 6 | 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 |
| COL1A1collagen type I alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| COL1A2collagen type I alpha 2 chain | Vaak (30–79%) | In 1 aandoening |
| COL9A1collagen type IX alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| COL9A2collagen type IX alpha 2 chain | Vaak (30–79%) | In 1 aandoening |
| COL9A3collagen type IX alpha 3 chain | Vaak (30–79%) | In 1 aandoening |
| COMPcartilage oligomeric matrix protein | Vaak (30–79%) | In 2 aandoeningen |
| DDRGK1DDRGK domain containing 1 | 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 |
| EMILIN1elastin microfibril interfacer 1 | Vaak (30–79%) | In 1 aandoening |
| EPORerythropoietin receptor | Vaak (30–79%) | In 1 aandoening |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Vaak (30–79%) | In 1 aandoening |
| F8coagulation factor VIII | Vaak (30–79%) | In 2 aandoeningen |
| FASFas cell surface death receptor | Vaak (30–79%) | In 1 aandoening |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | 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 |
| HPGD15-hydroxyprostaglandin dehydrogenase | Vaak (30–79%) | In 4 aandoeningen |
| IFNGR1interferon gamma receptor 1 | Vaak (30–79%) | In 1 aandoening |
| IL10interleukin 10 | Vaak (30–79%) | In 2 aandoeningen |
| IL12Ainterleukin 12A | Vaak (30–79%) | In 1 aandoening |
| IL12A-AS1IL12A antisense RNA 1 | Vaak (30–79%) | In 1 aandoening |
| IL23Rinterleukin 23 receptor | 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 |
| IRF5interferon regulatory factor 5 | Vaak (30–79%) | In 1 aandoening |
| JAK2Janus kinase 2 | Vaak (30–79%) | In 1 aandoening |
| KIF7kinesin family member 7 | Vaak (30–79%) | In 1 aandoening |
| KLRC4killer cell lectin like receptor C4 | Vaak (30–79%) | In 1 aandoening |
| LIMK1LIM domain kinase 1 | Vaak (30–79%) | In 1 aandoening |
| LOXL3lysyl oxidase like 3 | Vaak (30–79%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Vaak (30–79%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Vaak (30–79%) | In 1 aandoening |
| NLRC4NLR family CARD domain containing 4 | Vaak (30–79%) | In 2 aandoeningen |
| NOTCH2notch receptor 2 | Vaak (30–79%) | In 1 aandoening |
| PHEXphosphate regulating endopeptidase X-linked | Vaak (30–79%) | In 2 aandoeningen |
| PKDCCprotein kinase domain containing, cytoplasmic | Vaak (30–79%) | In 1 aandoening |
| PLD4phospholipase D family member 4 | Vaak (30–79%) | In 1 aandoening |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Vaak (30–79%) | In 1 aandoening |
| PTPN6protein tyrosine phosphatase non-receptor type 6 | Vaak (30–79%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | Vaak (30–79%) | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Vaak (30–79%) | In 1 aandoening |
| RRAGDRas related GTP binding D | Vaak (30–79%) | In 1 aandoening |
| RUNX1RUNX family transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Vaak (30–79%) | In 1 aandoening |
| SMAD2SMAD family member 2 | Vaak (30–79%) | In 1 aandoening |
| SRSF2serine and arginine rich splicing factor 2 | Vaak (30–79%) | In 2 aandoeningen |
| STAT4signal transducer and activator of transcription 4 | Vaak (30–79%) | In 3 aandoeningen |
| STING1stimulator of interferon response cGAMP interactor 1 | Vaak (30–79%) | In 1 aandoening |
| STX1Asyntaxin 1A | Vaak (30–79%) | In 1 aandoening |
| TBL2transducin beta like 2 | Vaak (30–79%) | In 1 aandoening |
| TET2tet methylcytosine dioxygenase 2 | Vaak (30–79%) | In 2 aandoeningen |
| TLR4toll like receptor 4 | Vaak (30–79%) | In 1 aandoening |
| TLR7toll like receptor 7 | Vaak (30–79%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Vaak (30–79%) | In 1 aandoening |
| TNFRSF1ATNF receptor superfamily member 1A | Vaak (30–79%) | In 3 aandoeningen |
| TNXBtenascin XB | Vaak (30–79%) | In 2 aandoeningen |
| TRAPPC2trafficking protein particle complex subunit 2 | Vaak (30–79%) | In 2 aandoeningen |
| UBAC2UBA domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Vaak (30–79%) | In 1 aandoening |
| ABCC6ATP binding cassette subfamily C member 6 | Soms (5–29%) | In 1 aandoening |
| APCAPC regulator of Wnt signaling pathway | Soms (5–29%) | In 1 aandoening |
| APOBapolipoprotein B | Soms (5–29%) | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Soms (5–29%) | In 1 aandoening |
| BMP6bone morphogenetic protein 6 | Soms (5–29%) | In 2 aandoeningen |
| CD55CD55 molecule (Cromer blood group) | Soms (5–29%) | In 1 aandoening |
| COL10A1collagen type X alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL5A1collagen type V alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL5A2collagen type V alpha 2 chain | Soms (5–29%) | In 1 aandoening |
| COPAcoat protein complex I subunit alpha | Soms (5–29%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Soms (5–29%) | In 1 aandoening |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Soms (5–29%) | In 1 aandoening |
| FTLferritin light chain | Soms (5–29%) | In 1 aandoening |
| HBBhemoglobin subunit beta | Soms (5–29%) | In 3 aandoeningen |
| HBG1hemoglobin subunit gamma 1 | Soms (5–29%) | In 1 aandoening |
| HBG2hemoglobin subunit gamma 2 | Soms (5–29%) | In 1 aandoening |
| HFEhomeostatic iron regulator | Soms (5–29%) | In 1 aandoening |
| IGHG2immunoglobulin heavy constant gamma 2 (G2m marker) | Soms (5–29%) | In 1 aandoening |
| IGKCimmunoglobulin kappa constant | Soms (5–29%) | In 1 aandoening |
| IL12Binterleukin 12B | Soms (5–29%) | In 1 aandoening |
| IRAK1interleukin 1 receptor associated kinase 1 | Soms (5–29%) | In 1 aandoening |
| KITKIT proto-oncogene, receptor tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| KLF1KLF transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| LDLRlow density lipoprotein receptor | Soms (5–29%) | In 1 aandoening |
| LDLRAP1low density lipoprotein receptor adaptor protein 1 | Soms (5–29%) | In 1 aandoening |
| LEMD3LEM domain containing 3 | Soms (5–29%) | In 1 aandoening |
| LMNAlamin A/C | Soms (5–29%) | In 1 aandoening |
| LMNB2lamin B2 | Soms (5–29%) | In 1 aandoening |
| MLXMAX dimerization protein MLX | Soms (5–29%) | In 1 aandoening |
| MYH3myosin heavy chain 3 | Soms (5–29%) | In 1 aandoening |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| PCSK9proprotein convertase subtilisin/kexin type 9 | Soms (5–29%) | In 1 aandoening |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| SFRP4secreted frizzled related protein 4 | Soms (5–29%) | In 2 aandoeningen |
| SMPD1sphingomyelin phosphodiesterase 1 | Soms (5–29%) | In 1 aandoening |
| SPP1secreted phosphoprotein 1 | Soms (5–29%) | In 1 aandoening |
| CLCNKBchloride voltage-gated channel Kb | Zelden (1–4%) | In 1 aandoening |
| SLC12A3solute carrier family 12 member 3 | Zelden (1–4%) | In 2 aandoeningen |
| ASPNasporin | Niet vastgelegd | In 1 aandoening |
| CD244CD244 molecule | Niet vastgelegd | In 1 aandoening |
| CIITAclass II major histocompatibility complex transactivator | Niet vastgelegd | In 1 aandoening |
| DSEdermatan sulfate epimerase | Niet vastgelegd | In 1 aandoening |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Niet vastgelegd | In 1 aandoening |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Niet vastgelegd | In 1 aandoening |
| IL1RNinterleukin 1 receptor antagonist | Niet vastgelegd | In 1 aandoening |
| MAFBMAF bZIP transcription factor B | Niet vastgelegd | In 1 aandoening |
| MATN3matrilin 3 | Niet vastgelegd | In 1 aandoening |
| MSMO1methylsterol monooxygenase 1 | Niet vastgelegd | In 1 aandoening |
| NFKBIL1NFKB inhibitor like 1 | Niet vastgelegd | In 1 aandoening |
| PSMB4proteasome 20S subunit beta 4 | Niet vastgelegd | In 1 aandoening |
| SLC22A4solute carrier family 22 member 4 | Niet vastgelegd | In 1 aandoening |
| SLC40A1solute carrier family 40 member 1 | Niet vastgelegd | In 1 aandoening |
| TRPS1transcriptional repressor GATA binding 1 | Niet vastgelegd | In 1 aandoening |
| UBA1ubiquitin like modifier activating enzyme 1 | Niet vastgelegd | In 1 aandoening |
| UFSP2UFM1 specific peptidase 2 | 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.
Smallere kenmerken
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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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