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Egenskap
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.
Sammendrag
- Også kalt
- 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
- Kroppssystem
- Abnormality of the nervous system
Diminished deep tendon reflexHP:0001315
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Få mitt Genome Test174 gener knyttet til Diminished deep tendon reflex
Endringer i disse genene forårsaker sjeldne tilstander der Diminished deep tendon reflex forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Alltid | I 1 tilstand |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Alltid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Alltid | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alltid | I 1 tilstand |
| SETXsenataxin | Alltid | I 1 tilstand |
| TUBA4Atubulin alpha 4a | Alltid | I 1 tilstand |
| ADCY6adenylate cyclase 6 | Svært ofte (80–99 %) | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CPT1Acarnitine palmitoyltransferase 1A | Svært ofte (80–99 %) | I 1 tilstand |
| DHHdesert hedgehog signaling molecule | Svært ofte (80–99 %) | I 1 tilstand |
| EMDemerin | Svært ofte (80–99 %) | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| HSPB1heat shock protein family B (small) member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| LGI4leucine rich repeat LGI family member 4 | Svært ofte (80–99 %) | I 1 tilstand |
| LMNAlamin A/C | Svært ofte (80–99 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Svært ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Svært ofte (80–99 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Svært ofte (80–99 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Svært ofte (80–99 %) | I 2 tilstander |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM43transmembrane protein 43 | Svært ofte (80–99 %) | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Svært ofte (80–99 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Svært ofte (80–99 %) | I 1 tilstand |
| ACADMacyl-CoA dehydrogenase medium chain | Ofte (30–79 %) | I 1 tilstand |
Vis 134 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| ERCC5ERCC excision repair 5, endonuclease | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| TPM3tropomyosin 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Noen ganger (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Noen ganger (5–29 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| DDB2damage specific DNA binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DDCdopa decarboxylase | Noen ganger (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DNASE1L3deoxyribonuclease 1L3 | Noen ganger (5–29 %) | I 1 tilstand |
| DNM1dynamin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DYSFdysferlin | Noen ganger (5–29 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| FKBP10FKBP prolyl isomerase 10 | Noen ganger (5–29 %) | I 1 tilstand |
| FKRPfukutin related protein | Noen ganger (5–29 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Noen ganger (5–29 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Noen ganger (5–29 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Noen ganger (5–29 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Noen ganger (5–29 %) | I 2 tilstander |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Noen ganger (5–29 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Noen ganger (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| PDHBpyruvate dehydrogenase E1 subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Noen ganger (5–29 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Noen ganger (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Noen ganger (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Noen ganger (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Noen ganger (5–29 %) | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Noen ganger (5–29 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Noen ganger (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| VCPvalosin containing protein | Noen ganger (5–29 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Noen ganger (5–29 %) | I 1 tilstand |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Noen ganger (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Noen ganger (5–29 %) | I 1 tilstand |
| APOBapolipoprotein B | Ikke registrert | I 1 tilstand |
| ATMATM serine/threonine kinase | Ikke registrert | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Ikke registrert | I 1 tilstand |
| FXNfrataxin | Ikke registrert | I 1 tilstand |
| GBE11,4-alpha-glucan branching enzyme 1 | Ikke registrert | I 1 tilstand |
| PITX3paired like homeodomain 3 | Ikke registrert | I 1 tilstand |
| SAR1Bsecretion associated Ras related GTPase 1B | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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