Kenmerk
Pain
An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
Samenvatting
- Lichaamssysteem
- Constitutional symptom
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij 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 |
|---|---|---|
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| LRRC7leucine rich repeat containing 7 | Altijd | In 1 aandoening |
| TM2D3TM2 domain containing 3 | Altijd | In 1 aandoening |
| ZMYM3zinc finger MYM-type containing 3 | Altijd | In 1 aandoening |
| AP1S3adaptor related protein complex 1 subunit sigma 3 | Heel vaak (80–99%) | In 1 aandoening |
| HBBhemoglobin subunit beta | Heel vaak (80–99%) | In 1 aandoening |
| HOGA14-hydroxy-2-oxoglutarate aldolase 1 | Heel vaak (80–99%) | In 1 aandoening |
| IL36RNinterleukin 36 receptor antagonist | Heel vaak (80–99%) | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Heel vaak (80–99%) | In 1 aandoening |
| PTPN6protein tyrosine phosphatase non-receptor type 6 | Heel vaak (80–99%) | In 1 aandoening |
| ANGangiogenin | Vaak (30–79%) | In 1 aandoening |
| ANXA11annexin A11 | Vaak (30–79%) | In 1 aandoening |
| ATXN2ataxin 2 | Vaak (30–79%) | In 1 aandoening |
| CCNFcyclin F | Vaak (30–79%) | In 1 aandoening |
| CFAP410cilia and flagella associated protein 410 | Vaak (30–79%) | In 1 aandoening |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Vaak (30–79%) | In 1 aandoening |
| CHEK2checkpoint kinase 2 | Vaak (30–79%) | In 1 aandoening |
| CHMP2Bcharged multivesicular body protein 2B | Vaak (30–79%) | In 1 aandoening |
| COQ6coenzyme Q6, monooxygenase | Vaak (30–79%) | In 1 aandoening |
| DAOD-amino acid oxidase | Vaak (30–79%) | In 1 aandoening |
| DCTN1dynactin subunit 1 | Vaak (30–79%) | In 1 aandoening |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Vaak (30–79%) | In 1 aandoening |
| EXT1exostosin glycosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| EXT2exostosin glycosyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| FDXRferredoxin reductase | Vaak (30–79%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 1 aandoening |
| FUSFUS RNA binding protein | Vaak (30–79%) | In 1 aandoening |
| GLE1GLE1 RNA export mediator | Vaak (30–79%) | In 1 aandoening |
| GLT8D1glycosyltransferase 8 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GNA14G protein subunit alpha 14 | Vaak (30–79%) | In 2 aandoeningen |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Vaak (30–79%) | In 1 aandoening |
| KYkyphoscoliosis peptidase | Vaak (30–79%) | In 1 aandoening |
| LRP12LDL receptor related protein 12 | Vaak (30–79%) | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Vaak (30–79%) | In 1 aandoening |
| MATR3matrin 3 | Vaak (30–79%) | In 1 aandoening |
| MMEmembrane metalloendopeptidase | Vaak (30–79%) | In 1 aandoening |
| NEFHneurofilament heavy chain | Vaak (30–79%) | In 1 aandoening |
| NEK1NIMA related kinase 1 | Vaak (30–79%) | In 1 aandoening |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Vaak (30–79%) | In 1 aandoening |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Vaak (30–79%) | In 1 aandoening |
Toon nog 58 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| OPTNoptineurin | Vaak (30–79%) | In 1 aandoening |
| PABPN1poly(A) binding protein nuclear 1 | Vaak (30–79%) | In 1 aandoening |
| PFN1profilin 1 | Vaak (30–79%) | In 1 aandoening |
| PRPHperipherin | Vaak (30–79%) | In 1 aandoening |
| RB1RB transcriptional corepressor 1 | Vaak (30–79%) | In 1 aandoening |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Vaak (30–79%) | In 1 aandoening |
| SOD1superoxide dismutase 1 | Vaak (30–79%) | In 1 aandoening |
| SQSTM1sequestosome 1 | Vaak (30–79%) | In 1 aandoening |
| TAF15TATA-box binding protein associated factor 15 | Vaak (30–79%) | In 1 aandoening |
| TARDBPTAR DNA binding protein | Vaak (30–79%) | In 1 aandoening |
| TBK1TANK binding kinase 1 | Vaak (30–79%) | In 1 aandoening |
| TP53tumor protein p53 | Vaak (30–79%) | In 1 aandoening |
| TREM2triggering receptor expressed on myeloid cells 2 | Vaak (30–79%) | In 1 aandoening |
| UBQLN2ubiquilin 2 | Vaak (30–79%) | In 1 aandoening |
| UNC13Aunc-13 homolog A | Vaak (30–79%) | In 1 aandoening |
| VAPBVAMP associated protein B and C | Vaak (30–79%) | In 1 aandoening |
| VCPvalosin containing protein | Vaak (30–79%) | In 1 aandoening |
| ZFTAzinc finger translocation associated | Vaak (30–79%) | In 1 aandoening |
| AAGABalpha and gamma adaptin binding protein | Soms (5–29%) | In 1 aandoening |
| ABCA12ATP binding cassette subfamily A member 12 | Soms (5–29%) | In 1 aandoening |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Soms (5–29%) | In 1 aandoening |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Soms (5–29%) | In 1 aandoening |
| ASPRV1aspartic peptidase retroviral like 1 | Soms (5–29%) | In 1 aandoening |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Soms (5–29%) | In 1 aandoening |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| COL14A1collagen type XIV alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL1A1collagen type I alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Soms (5–29%) | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Soms (5–29%) | In 1 aandoening |
| FOXE1forkhead box E1 | Soms (5–29%) | In 1 aandoening |
| HABP2hyaluronan binding protein 2 | Soms (5–29%) | In 1 aandoening |
| HARS1histidyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| KCNE3potassium voltage-gated channel subfamily E regulatory subunit 3 | Soms (5–29%) | In 1 aandoening |
| LIPNlipase family member N | Soms (5–29%) | In 1 aandoening |
| LRP1LDL receptor related protein 1 | Soms (5–29%) | In 1 aandoening |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Soms (5–29%) | In 1 aandoening |
| NF1neurofibromin 1 | Soms (5–29%) | In 1 aandoening |
| NIPAL4NIPA like domain containing 4 | 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 |
| PDGFBplatelet derived growth factor subunit B | Soms (5–29%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| RASA1RAS p21 protein activator 1 | Soms (5–29%) | In 1 aandoening |
| REEP2receptor accessory protein 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 |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Soms (5–29%) | In 1 aandoening |
| SULT2B1sulfotransferase family 2B member 1 | Soms (5–29%) | In 1 aandoening |
| TGM1transglutaminase 1 | Soms (5–29%) | In 1 aandoening |
| ACADVLacyl-CoA dehydrogenase very long chain | Zelden (1–4%) | In 1 aandoening |
| CATcatalase | Zelden (1–4%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Zelden (1–4%) | In 1 aandoening |
| COQ7coenzyme Q7, hydroxylase | Niet vastgelegd | In 1 aandoening |
| FERMT3FERM domain containing kindlin 3 | Niet vastgelegd | In 1 aandoening |
| MFN2mitofusin 2 | Niet vastgelegd | In 1 aandoening |
| NGLY1N-glycanase 1 | Niet vastgelegd | In 1 aandoening |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Niet vastgelegd | In 1 aandoening |
| SCN9Asodium voltage-gated channel alpha subunit 9 | 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
- Abdominal pain327 genen
- Joint pain202 genen
- Muscle ache176 genen
- Chest pain143 genen
- Bone pain90 genen
- Back pain68 genen
- Limb pain18 genen
- Flank pain15 genen
- Chronic pain14 genen
- Painful menstruation14 genen
- Hip pain13 genen
- Epigastric pain12 genen
- Erythromelalgia10 genen
- Shoulder pain7 genen
- Allodynia5 genen
- Episodic pain3 genen
- Lower jaw pain3 genen
- Sore throat3 genen
- Groin pain2 genen
- Jaw pain2 genen
- Tendon pain2 genen
- Anal pain1 gen
- Costochondral pain1 gen
- Neuralgia
- Pain in head and neck region
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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