Kenmerk
Muscle spasm
Sudden and involuntary contractions of one or more muscles.
Samenvatting
- Ook bekend als
- Muscle cramps, Muscle spasms
- Lichaamssysteem
- Abnormality of the musculoskeletal system
ReferentiegenoomGRCh38hg38
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Mijn Genome Test bestellen173 genen gekoppeld aan Muscle spasm
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Muscle spasm 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 |
|---|---|---|
| ARHGAP19Rho GTPase activating protein 19 | Altijd | In 1 aandoening |
| CASRcalcium sensing receptor | Altijd | In 1 aandoening |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Altijd | In 2 aandoeningen |
| COL4A1collagen type IV alpha 1 chain | Altijd | In 2 aandoeningen |
| FDX2ferredoxin 2 | Altijd | In 1 aandoening |
| HSPB8heat shock protein family B (small) member 8 | Altijd | In 1 aandoening |
| LRP12LDL receptor related protein 12 | Altijd | In 2 aandoeningen |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Altijd | In 4 aandoeningen |
| AMPD1adenosine monophosphate deaminase 1 | Heel vaak (80–99%) | In 1 aandoening |
| AMPD3adenosine monophosphate deaminase 3 | Heel vaak (80–99%) | In 1 aandoening |
| CASQ1calsequestrin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Heel vaak (80–99%) | In 1 aandoening |
| STIM1stromal interaction molecule 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| VAPBVAMP associated protein B and C | Heel vaak (80–99%) | In 4 aandoeningen |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Vaak (30–79%) | In 1 aandoening |
| ANGangiogenin | Vaak (30–79%) | In 1 aandoening |
| ANXA11annexin A11 | Vaak (30–79%) | In 1 aandoening |
| ATXN1ataxin 1 | Vaak (30–79%) | In 1 aandoening |
| ATXN2ataxin 2 | Vaak (30–79%) | In 2 aandoeningen |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Vaak (30–79%) | In 2 aandoeningen |
| CARMIL2capping protein regulator and myosin 1 linker 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 |
| CHMP2Bcharged multivesicular body protein 2B | Vaak (30–79%) | In 1 aandoening |
| COL1A1collagen type I alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL5A1collagen type V alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL5A2collagen type V alpha 2 chain | Vaak (30–79%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Vaak (30–79%) | In 1 aandoening |
| DAOD-amino acid oxidase | Vaak (30–79%) | In 1 aandoening |
| DCTN1dynactin subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| DMDdystrophin | Vaak (30–79%) | In 2 aandoeningen |
| DNA2DNA replication helicase/nuclease 2 | Vaak (30–79%) | In 2 aandoeningen |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Vaak (30–79%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 1 aandoening |
| FKRPfukutin related protein | Vaak (30–79%) | In 3 aandoeningen |
| FKTNfukutin | Vaak (30–79%) | In 1 aandoening |
| FUSFUS RNA binding protein | Vaak (30–79%) | In 1 aandoening |
| FXNfrataxin | Vaak (30–79%) | In 1 aandoening |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Vaak (30–79%) | In 1 aandoening |
| GLE1GLE1 RNA export mediator | Vaak (30–79%) | In 1 aandoening |
Toon nog 133 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| GLT8D1glycosyltransferase 8 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GNA11G protein subunit alpha 11 | Vaak (30–79%) | In 1 aandoening |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Vaak (30–79%) | In 2 aandoeningen |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Vaak (30–79%) | In 1 aandoening |
| HHAThedgehog acyltransferase | Vaak (30–79%) | In 1 aandoening |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Vaak (30–79%) | In 1 aandoening |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Vaak (30–79%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Vaak (30–79%) | In 1 aandoening |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Vaak (30–79%) | In 1 aandoening |
| KYkyphoscoliosis peptidase | Vaak (30–79%) | In 1 aandoening |
| MATR3matrin 3 | Vaak (30–79%) | In 1 aandoening |
| MFN2mitofusin 2 | Vaak (30–79%) | In 1 aandoening |
| MICU1mitochondrial calcium uptake 1 | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 1 aandoening |
| NEFHneurofilament heavy chain | Vaak (30–79%) | In 2 aandoeningen |
| NEK1NIMA related kinase 1 | Vaak (30–79%) | In 1 aandoening |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Vaak (30–79%) | In 1 aandoening |
| OPTNoptineurin | Vaak (30–79%) | In 1 aandoening |
| PFN1profilin 1 | Vaak (30–79%) | In 1 aandoening |
| PGK1phosphoglycerate kinase 1 | Vaak (30–79%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| PRPHperipherin | Vaak (30–79%) | In 2 aandoeningen |
| PUS7pseudouridine synthase 7 | Vaak (30–79%) | In 1 aandoening |
| RTN2reticulon 2 | Vaak (30–79%) | In 1 aandoening |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Vaak (30–79%) | In 1 aandoening |
| SMN1survival of motor neuron 1, telomeric | Vaak (30–79%) | In 1 aandoening |
| SMN2survival of motor neuron 2, centromeric | Vaak (30–79%) | In 1 aandoening |
| SOD1superoxide dismutase 1 | Vaak (30–79%) | In 2 aandoeningen |
| SQSTM1sequestosome 1 | Vaak (30–79%) | In 1 aandoening |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Vaak (30–79%) | In 1 aandoening |
| SVILsupervillin | 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 |
| TRAPPC11trafficking protein particle complex subunit 11 | Vaak (30–79%) | In 2 aandoeningen |
| TREM2triggering receptor expressed on myeloid cells 2 | Vaak (30–79%) | In 1 aandoening |
| UBAP1ubiquitin associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| UBQLN2ubiquilin 2 | Vaak (30–79%) | In 1 aandoening |
| UNC13Aunc-13 homolog A | Vaak (30–79%) | In 1 aandoening |
| VCPvalosin containing protein | Vaak (30–79%) | In 3 aandoeningen |
| WASHC5WASH complex subunit 5 | Vaak (30–79%) | In 1 aandoening |
| ACADMacyl-CoA dehydrogenase medium chain | Soms (5–29%) | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Soms (5–29%) | In 1 aandoening |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Soms (5–29%) | In 1 aandoening |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| ATXN3ataxin 3 | Soms (5–29%) | In 4 aandoeningen |
| BAG3BAG cochaperone 3 | Soms (5–29%) | In 1 aandoening |
| CADM3cell adhesion molecule 3 | Soms (5–29%) | In 1 aandoening |
| CLCN1chloride voltage-gated channel 1 | Soms (5–29%) | In 1 aandoening |
| CLCNKBchloride voltage-gated channel Kb | Soms (5–29%) | In 1 aandoening |
| CMPK2cytidine/uridine monophosphate kinase 2 | Soms (5–29%) | In 1 aandoening |
| CPT2carnitine palmitoyltransferase 2 | Soms (5–29%) | In 2 aandoeningen |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Soms (5–29%) | In 1 aandoening |
| DGUOKdeoxyguanosine kinase | Soms (5–29%) | In 1 aandoening |
| DLDdihydrolipoamide dehydrogenase | Soms (5–29%) | In 1 aandoening |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Soms (5–29%) | In 1 aandoening |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Soms (5–29%) | In 1 aandoening |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Soms (5–29%) | In 1 aandoening |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Soms (5–29%) | In 1 aandoening |
| FLVCR1FLVCR choline and heme transporter 1 | Soms (5–29%) | In 1 aandoening |
| GALCgalactosylceramidase | Soms (5–29%) | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Soms (5–29%) | In 1 aandoening |
| GBE11,4-alpha-glucan branching enzyme 1 | Soms (5–29%) | In 1 aandoening |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Soms (5–29%) | In 1 aandoening |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Soms (5–29%) | In 3 aandoeningen |
| GIGYF2GRB10 interacting GYF protein 2 | Soms (5–29%) | In 1 aandoening |
| GMPPBGDP-mannose pyrophosphorylase B | Soms (5–29%) | In 2 aandoeningen |
| GNASGNAS complex locus | Soms (5–29%) | In 3 aandoeningen |
| HEXBhexosaminidase subunit beta | Soms (5–29%) | In 1 aandoening |
| HSPB1heat shock protein family B (small) member 1 | Soms (5–29%) | In 1 aandoening |
| HTRA2HtrA serine peptidase 2 | Soms (5–29%) | In 1 aandoening |
| JAM2junctional adhesion molecule 2 | Soms (5–29%) | In 1 aandoening |
| KCNE3potassium voltage-gated channel subfamily E regulatory subunit 3 | Soms (5–29%) | In 1 aandoening |
| KPNA3karyopherin subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| LPIN1lipin 1 | Soms (5–29%) | In 1 aandoening |
| LRRK2leucine rich repeat kinase 2 | Soms (5–29%) | In 2 aandoeningen |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Soms (5–29%) | In 1 aandoening |
| MORC2MORC family CW-type zinc finger 2 | Soms (5–29%) | In 2 aandoeningen |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Soms (5–29%) | In 1 aandoening |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Soms (5–29%) | In 1 aandoening |
| MYORGmyogenesis regulating glycosidase | Soms (5–29%) | In 1 aandoening |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NEFLneurofilament light chain | Soms (5–29%) | In 1 aandoening |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Soms (5–29%) | In 1 aandoening |
| PARK7Parkinsonism associated deglycase | Soms (5–29%) | In 1 aandoening |
| PDGFBplatelet derived growth factor subunit B | Soms (5–29%) | In 1 aandoening |
| PDGFRBplatelet derived growth factor receptor beta | Soms (5–29%) | In 1 aandoening |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Soms (5–29%) | In 1 aandoening |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| PHKBphosphorylase kinase regulatory subunit beta | Soms (5–29%) | In 1 aandoening |
| PHKG1phosphorylase kinase catalytic subunit gamma 1 | Soms (5–29%) | In 1 aandoening |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Soms (5–29%) | In 1 aandoening |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Soms (5–29%) | In 1 aandoening |
| PINK1PTEN induced kinase 1 | Soms (5–29%) | In 1 aandoening |
| PMP22peripheral myelin protein 22 | Soms (5–29%) | In 1 aandoening |
| PODXLpodocalyxin like | Soms (5–29%) | In 1 aandoening |
| PRKNparkin RBR E3 ubiquitin protein ligase | Soms (5–29%) | In 1 aandoening |
| PSAPprosaposin | Soms (5–29%) | In 1 aandoening |
| RNASEH1ribonuclease H1 | Soms (5–29%) | In 1 aandoening |
| RRP12ribosomal RNA processing 12 homolog | Soms (5–29%) | In 1 aandoening |
| SLC12A3solute carrier family 12 member 3 | Soms (5–29%) | In 2 aandoeningen |
| SLC20A2solute carrier family 20 member 2 | Soms (5–29%) | In 1 aandoening |
| SNCAsynuclein alpha | Soms (5–29%) | In 2 aandoeningen |
| STX16syntaxin 16 | Soms (5–29%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Soms (5–29%) | In 1 aandoening |
| UCHL1ubiquitin C-terminal hydrolase L1 | Soms (5–29%) | In 1 aandoening |
| VPS13Cvacuolar protein sorting 13 homolog C | Soms (5–29%) | In 1 aandoening |
| VPS35VPS35 retromer complex component | Soms (5–29%) | In 1 aandoening |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Soms (5–29%) | In 1 aandoening |
| ACADVLacyl-CoA dehydrogenase very long chain | Zelden (1–4%) | In 1 aandoening |
| POLGDNA polymerase gamma, catalytic subunit | Zelden (1–4%) | In 1 aandoening |
| POLG2DNA polymerase gamma 2, accessory subunit | Zelden (1–4%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Zelden (1–4%) | In 1 aandoening |
| SLC25A4solute carrier family 25 member 4 | Zelden (1–4%) | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Zelden (1–4%) | In 1 aandoening |
| ABCB6ATP binding cassette subfamily B member 6 (LAN blood group) | Niet vastgelegd | In 1 aandoening |
| ARandrogen receptor | Niet vastgelegd | In 1 aandoening |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Niet vastgelegd | In 1 aandoening |
| CAV3caveolin 3 | Niet vastgelegd | In 1 aandoening |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Niet vastgelegd | In 1 aandoening |
| DOK7docking protein 7 | Niet vastgelegd | In 1 aandoening |
| FBXO38F-box protein 38 | Niet vastgelegd | In 1 aandoening |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Niet vastgelegd | In 1 aandoening |
| GLAgalactosidase alpha | Niet vastgelegd | In 1 aandoening |
| HINT1histidine triad nucleotide binding protein 1 | Niet vastgelegd | In 1 aandoening |
| ISCUiron-sulfur cluster assembly enzyme | Niet vastgelegd | In 1 aandoening |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Niet vastgelegd | In 1 aandoening |
| LDHAlactate dehydrogenase A | Niet vastgelegd | In 1 aandoening |
| MUSKmuscle associated receptor tyrosine kinase | Niet vastgelegd | In 1 aandoening |
| SLC12A1solute carrier family 12 member 1 | Niet vastgelegd | In 1 aandoening |
| TFGtrafficking from ER to golgi regulator | Niet vastgelegd | In 1 aandoening |
| TRPM6transient receptor potential cation channel subfamily M member 6 | Niet vastgelegd | In 1 aandoening |
| TRPM7transient receptor potential cation channel subfamily M member 7 | 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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