Træk
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.
Resumé
- Også kaldet
- 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
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test174 gener knyttet til Diminished deep tendon reflex
Ændringer i disse gener forårsager sjældne tilstande, hvor Diminished deep tendon reflex ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Altid | I 1 tilstand |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Altid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Altid | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Altid | I 1 tilstand |
| SETXsenataxin | Altid | I 1 tilstand |
| TUBA4Atubulin alpha 4a | Altid | I 1 tilstand |
| ADCY6adenylate cyclase 6 | Meget ofte (80–99 %) | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CPT1Acarnitine palmitoyltransferase 1A | Meget ofte (80–99 %) | I 1 tilstand |
| DHHdesert hedgehog signaling molecule | Meget ofte (80–99 %) | I 1 tilstand |
| EMDemerin | Meget ofte (80–99 %) | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| HSPB1heat shock protein family B (small) member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| LGI4leucine rich repeat LGI family member 4 | Meget ofte (80–99 %) | I 1 tilstand |
| LMNAlamin A/C | Meget ofte (80–99 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Meget ofte (80–99 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Meget ofte (80–99 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Meget ofte (80–99 %) | I 2 tilstande |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM43transmembrane protein 43 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Meget ofte (80–99 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Meget ofte (80–99 %) | I 1 tilstand |
| ACADMacyl-CoA dehydrogenase medium chain | Ofte (30–79 %) | I 1 tilstand |
Vis 134 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Ofte (30–79 %) | I 2 tilstande |
| ADSS1adenylosuccinate synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Ofte (30–79 %) | I 1 tilstand |
| DBHdopamine beta-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| DOCK3dedicator of cytokinesis 3 | Ofte (30–79 %) | I 1 tilstand |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Ofte (30–79 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Ofte (30–79 %) | I 2 tilstande |
| ERCC5ERCC excision repair 5, endonuclease | Ofte (30–79 %) | I 2 tilstande |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 1 tilstand |
| FUZfuzzy planar cell polarity protein | Ofte (30–79 %) | I 1 tilstand |
| GDAP1ganglioside induced differentiation associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| GFERgrowth factor, augmenter of liver regeneration | Ofte (30–79 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Ofte (30–79 %) | I 1 tilstand |
| HINT1histidine triad nucleotide binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Ofte (30–79 %) | I 1 tilstand |
| KCNE3potassium voltage-gated channel subfamily E regulatory subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| LPIN1lipin 1 | Ofte (30–79 %) | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Ofte (30–79 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ofte (30–79 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Ofte (30–79 %) | I 1 tilstand |
| MFN2mitofusin 2 | Ofte (30–79 %) | I 1 tilstand |
| MRE11MRE11 double strand break repair nuclease | Ofte (30–79 %) | I 2 tilstande |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ofte (30–79 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ofte (30–79 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Ofte (30–79 %) | I 1 tilstand |
| MYPNmyopalladin | Ofte (30–79 %) | I 1 tilstand |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Ofte (30–79 %) | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Ofte (30–79 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Ofte (30–79 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Ofte (30–79 %) | I 1 tilstand |
| SELENONselenoprotein N | Ofte (30–79 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Ofte (30–79 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Ofte (30–79 %) | I 2 tilstande |
| TPM3tropomyosin 3 | Ofte (30–79 %) | I 2 tilstande |
| VANGL1VANGL planar cell polarity protein 1 | Ofte (30–79 %) | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Nogle gange (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Nogle gange (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Nogle gange (5–29 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| DDB2damage specific DNA binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DDCdopa decarboxylase | Nogle gange (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DNASE1L3deoxyribonuclease 1L3 | Nogle gange (5–29 %) | I 1 tilstand |
| DNM1dynamin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DYSFdysferlin | Nogle gange (5–29 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| FKBP10FKBP prolyl isomerase 10 | Nogle gange (5–29 %) | I 1 tilstand |
| FKRPfukutin related protein | Nogle gange (5–29 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Nogle gange (5–29 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Nogle gange (5–29 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Nogle gange (5–29 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Nogle gange (5–29 %) | I 2 tilstande |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Nogle gange (5–29 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Nogle gange (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| PDHBpyruvate dehydrogenase E1 subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Nogle gange (5–29 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Nogle gange (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Nogle gange (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Nogle gange (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Nogle gange (5–29 %) | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Nogle gange (5–29 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Nogle gange (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| VCPvalosin containing protein | Nogle gange (5–29 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Nogle gange (5–29 %) | I 1 tilstand |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Nogle gange (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Nogle gange (5–29 %) | I 1 tilstand |
| APOBapolipoprotein B | Ikke registreret | I 1 tilstand |
| ATMATM serine/threonine kinase | Ikke registreret | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Ikke registreret | I 1 tilstand |
| FXNfrataxin | Ikke registreret | I 1 tilstand |
| GBE11,4-alpha-glucan branching enzyme 1 | Ikke registreret | I 1 tilstand |
| PITX3paired like homeodomain 3 | Ikke registreret | I 1 tilstand |
| SAR1Bsecretion associated Ras related GTPase 1B | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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