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Kenmerk
Diminished deep tendon reflex
A reduction (hyporeflexia) or complete absence (areflexia) of the involuntary muscle contraction normally elicited by a reflex stimulus, such as tapping a deep tendon.
Samenvatting
- Ook bekend als
- Absent or decreased deep tendon reflexes, Decreased deep tendon reflexes, Decreased tendon reflexes, Decreased to absent deep tendon reflexes, Decreased/absent deep tendon reflexes, Depressed tendon reflexes, Diminished deep tendon reflexes, Diminished or absent deep tendon reflexes, Diminished or absent tendon reflexes, Hypoactive to absent deep tendon reflexes, Impaired tendon reflexes, Reduced tendon reflexes, Reduced/absent deep tendon reflexes, Weak or absent deep tendon reflexes
- Lichaamssysteem
- Abnormality of the nervous system
Diminished deep tendon reflexHP:0001315
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Mijn Genome Test bestellen174 genen gekoppeld aan Diminished deep tendon reflex
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Diminished deep tendon reflex 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 |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Altijd | In 1 aandoening |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Altijd | In 1 aandoening |
| MARS1methionyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| MYORGmyogenesis regulating glycosidase | Altijd | In 1 aandoening |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Altijd | In 1 aandoening |
| SETXsenataxin | Altijd | In 1 aandoening |
| TUBA4Atubulin alpha 4a | Altijd | In 1 aandoening |
| ADCY6adenylate cyclase 6 | Heel vaak (80–99%) | In 1 aandoening |
| CNTNAP1contactin associated protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| CPT1Acarnitine palmitoyltransferase 1A | Heel vaak (80–99%) | In 1 aandoening |
| DHHdesert hedgehog signaling molecule | Heel vaak (80–99%) | In 1 aandoening |
| EMDemerin | Heel vaak (80–99%) | In 1 aandoening |
| FHL1four and a half LIM domains 1 | Heel vaak (80–99%) | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| HSPB1heat shock protein family B (small) member 1 | Heel vaak (80–99%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| LGI4leucine rich repeat LGI family member 4 | Heel vaak (80–99%) | In 1 aandoening |
| LMNAlamin A/C | Heel vaak (80–99%) | In 1 aandoening |
| MORC2MORC family CW-type zinc finger 2 | Heel vaak (80–99%) | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| PEX1peroxisomal biogenesis factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| PEX10peroxisomal biogenesis factor 10 | Heel vaak (80–99%) | In 1 aandoening |
| PEX11Bperoxisomal biogenesis factor 11 beta | Heel vaak (80–99%) | In 1 aandoening |
| PEX12peroxisomal biogenesis factor 12 | Heel vaak (80–99%) | In 1 aandoening |
| PEX13peroxisomal biogenesis factor 13 | Heel vaak (80–99%) | In 1 aandoening |
| PEX14peroxisomal biogenesis factor 14 | Heel vaak (80–99%) | In 1 aandoening |
| PEX16peroxisomal biogenesis factor 16 | Heel vaak (80–99%) | In 1 aandoening |
| PEX19peroxisomal biogenesis factor 19 | Heel vaak (80–99%) | In 1 aandoening |
| PEX2peroxisomal biogenesis factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| PEX26peroxisomal biogenesis factor 26 | Heel vaak (80–99%) | In 1 aandoening |
| PEX3peroxisomal biogenesis factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Heel vaak (80–99%) | In 1 aandoening |
| PEX6peroxisomal biogenesis factor 6 | Heel vaak (80–99%) | In 1 aandoening |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM43transmembrane protein 43 | Heel vaak (80–99%) | In 1 aandoening |
| TRIM37tripartite motif containing 37 | Heel vaak (80–99%) | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Heel vaak (80–99%) | In 1 aandoening |
| ACADMacyl-CoA dehydrogenase medium chain | Vaak (30–79%) | In 1 aandoening |
Toon nog 134 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Vaak (30–79%) | In 2 aandoeningen |
| ADSS1adenylosuccinate synthase 1 | Vaak (30–79%) | In 1 aandoening |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Vaak (30–79%) | In 1 aandoening |
| DBHdopamine beta-hydroxylase | Vaak (30–79%) | In 1 aandoening |
| DOCK3dedicator of cytokinesis 3 | Vaak (30–79%) | In 1 aandoening |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Vaak (30–79%) | In 1 aandoening |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Vaak (30–79%) | In 2 aandoeningen |
| ERCC5ERCC excision repair 5, endonuclease | Vaak (30–79%) | In 2 aandoeningen |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Vaak (30–79%) | In 1 aandoening |
| FUZfuzzy planar cell polarity protein | Vaak (30–79%) | In 1 aandoening |
| GDAP1ganglioside induced differentiation associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| GFERgrowth factor, augmenter of liver regeneration | Vaak (30–79%) | In 1 aandoening |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Vaak (30–79%) | In 1 aandoening |
| HINT1histidine triad nucleotide binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| ITGA7integrin subunit alpha 7 | Vaak (30–79%) | In 1 aandoening |
| KCNE3potassium voltage-gated channel subfamily E regulatory subunit 3 | Vaak (30–79%) | In 1 aandoening |
| LPIN1lipin 1 | Vaak (30–79%) | In 1 aandoening |
| LRP12LDL receptor related protein 12 | Vaak (30–79%) | In 1 aandoening |
| MAGEL2MAGE family member L2 | Vaak (30–79%) | In 1 aandoening |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Vaak (30–79%) | In 1 aandoening |
| MFN2mitofusin 2 | Vaak (30–79%) | In 1 aandoening |
| MRE11MRE11 double strand break repair nuclease | Vaak (30–79%) | In 2 aandoeningen |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Vaak (30–79%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Vaak (30–79%) | In 1 aandoening |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Vaak (30–79%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Vaak (30–79%) | In 1 aandoening |
| MYL2myosin light chain 2 | Vaak (30–79%) | In 1 aandoening |
| MYPNmyopalladin | Vaak (30–79%) | In 1 aandoening |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Vaak (30–79%) | In 1 aandoening |
| PRNPprion protein (Kanno blood group) | Vaak (30–79%) | In 1 aandoening |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Vaak (30–79%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Vaak (30–79%) | In 1 aandoening |
| SELENONselenoprotein N | Vaak (30–79%) | In 1 aandoening |
| SIM1SIM bHLH transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| TAF1TATA-box binding protein associated factor 1 | Vaak (30–79%) | In 1 aandoening |
| TBCKTBC1 domain containing kinase | Vaak (30–79%) | In 1 aandoening |
| TPM2tropomyosin 2 | Vaak (30–79%) | In 2 aandoeningen |
| TPM3tropomyosin 3 | Vaak (30–79%) | In 2 aandoeningen |
| VANGL1VANGL planar cell polarity protein 1 | Vaak (30–79%) | In 1 aandoening |
| VPS13Avacuolar protein sorting 13 homolog A | Vaak (30–79%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ACTL6Bactin like 6B | Soms (5–29%) | In 1 aandoening |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| ATP6V1AATPase H+ transporting V1 subunit A | Soms (5–29%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Soms (5–29%) | In 1 aandoening |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Soms (5–29%) | In 1 aandoening |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Soms (5–29%) | In 1 aandoening |
| CDK19cyclin dependent kinase 19 | Soms (5–29%) | In 1 aandoening |
| CELF2CUGBP Elav-like family member 2 | Soms (5–29%) | In 1 aandoening |
| CLTCclathrin heavy chain | Soms (5–29%) | In 1 aandoening |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Soms (5–29%) | In 1 aandoening |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Soms (5–29%) | In 1 aandoening |
| DALRD3DALR anticodon binding domain containing 3 | Soms (5–29%) | In 1 aandoening |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| DDB2damage specific DNA binding protein 2 | Soms (5–29%) | In 1 aandoening |
| DDCdopa decarboxylase | Soms (5–29%) | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Soms (5–29%) | In 1 aandoening |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Soms (5–29%) | In 1 aandoening |
| DNASE1L3deoxyribonuclease 1L3 | Soms (5–29%) | In 1 aandoening |
| DNM1dynamin 1 | Soms (5–29%) | In 1 aandoening |
| DYSFdysferlin | Soms (5–29%) | In 1 aandoening |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Soms (5–29%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Soms (5–29%) | In 1 aandoening |
| FBXO28F-box protein 28 | Soms (5–29%) | In 1 aandoening |
| FGF12fibroblast growth factor 12 | Soms (5–29%) | In 1 aandoening |
| FKBP10FKBP prolyl isomerase 10 | Soms (5–29%) | In 1 aandoening |
| FKRPfukutin related protein | Soms (5–29%) | In 1 aandoening |
| FOXG1forkhead box G1 | Soms (5–29%) | In 1 aandoening |
| FZR1fizzy and cell division cycle 20 related 1 | Soms (5–29%) | In 1 aandoening |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Soms (5–29%) | In 1 aandoening |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Soms (5–29%) | In 1 aandoening |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Soms (5–29%) | In 1 aandoening |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Soms (5–29%) | In 1 aandoening |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Soms (5–29%) | In 1 aandoening |
| GMPPBGDP-mannose pyrophosphorylase B | Soms (5–29%) | In 1 aandoening |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Soms (5–29%) | In 1 aandoening |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Soms (5–29%) | In 1 aandoening |
| HEXBhexosaminidase subunit beta | Soms (5–29%) | In 1 aandoening |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Soms (5–29%) | In 2 aandoeningen |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Soms (5–29%) | In 1 aandoening |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Soms (5–29%) | In 1 aandoening |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Soms (5–29%) | In 1 aandoening |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Soms (5–29%) | In 1 aandoening |
| LAMA2laminin subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Soms (5–29%) | In 1 aandoening |
| MED25mediator complex subunit 25 | Soms (5–29%) | In 1 aandoening |
| NECAP1NECAP endocytosis associated 1 | Soms (5–29%) | In 1 aandoening |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Soms (5–29%) | In 1 aandoening |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Soms (5–29%) | In 1 aandoening |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Soms (5–29%) | In 1 aandoening |
| PACS2phosphofurin acidic cluster sorting protein 2 | Soms (5–29%) | In 1 aandoening |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| PDHBpyruvate dehydrogenase E1 subunit beta | Soms (5–29%) | In 1 aandoening |
| PGAP2post-GPI attachment to proteins 2 | Soms (5–29%) | In 1 aandoening |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Soms (5–29%) | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Soms (5–29%) | In 1 aandoening |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Soms (5–29%) | In 1 aandoening |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Soms (5–29%) | In 1 aandoening |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Soms (5–29%) | In 1 aandoening |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Soms (5–29%) | In 1 aandoening |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Soms (5–29%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PSMB8proteasome 20S subunit beta 8 | Soms (5–29%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Soms (5–29%) | In 1 aandoening |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Soms (5–29%) | In 1 aandoening |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Soms (5–29%) | In 1 aandoening |
| SLC13A5solute carrier family 13 member 5 | Soms (5–29%) | In 1 aandoening |
| SLC1A2solute carrier family 1 member 2 | Soms (5–29%) | In 1 aandoening |
| SLC38A3solute carrier family 38 member 3 | Soms (5–29%) | In 1 aandoening |
| STAC3SH3 and cysteine rich domain 3 | Soms (5–29%) | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Soms (5–29%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Soms (5–29%) | In 1 aandoening |
| SZT2SZT2 subunit of KICSTOR complex | Soms (5–29%) | In 1 aandoening |
| TRAK1trafficking kinesin protein 1 | Soms (5–29%) | In 1 aandoening |
| UBA5ubiquitin like modifier activating enzyme 5 | Soms (5–29%) | In 1 aandoening |
| UFSP2UFM1 specific peptidase 2 | Soms (5–29%) | In 1 aandoening |
| VCPvalosin containing protein | Soms (5–29%) | In 1 aandoening |
| XPAXPA, DNA damage recognition and repair factor | Soms (5–29%) | In 1 aandoening |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Soms (5–29%) | In 1 aandoening |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Soms (5–29%) | In 1 aandoening |
| APOBapolipoprotein B | Niet vastgelegd | In 1 aandoening |
| ATMATM serine/threonine kinase | Niet vastgelegd | In 1 aandoening |
| CNTNAP2contactin associated protein 2 | Niet vastgelegd | In 1 aandoening |
| FXNfrataxin | Niet vastgelegd | In 1 aandoening |
| GBE11,4-alpha-glucan branching enzyme 1 | Niet vastgelegd | In 1 aandoening |
| PITX3paired like homeodomain 3 | Niet vastgelegd | In 1 aandoening |
| SAR1Bsecretion associated Ras related GTPase 1B | 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
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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