Tunnus
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.
Kokkuvõte
- Teised nimetused
- 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
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
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Telli oma Genome Test174 geeni on seotud tunnusega Diminished deep tendon reflex
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Diminished deep tendon reflex. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Alati | Esineb 1 haiguses |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Alati | Esineb 1 haiguses |
| MARS1methionyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| MYORGmyogenesis regulating glycosidase | Alati | Esineb 1 haiguses |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alati | Esineb 1 haiguses |
| SETXsenataxin | Alati | Esineb 1 haiguses |
| TUBA4Atubulin alpha 4a | Alati | Esineb 1 haiguses |
| ADCY6adenylate cyclase 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CNTNAP1contactin associated protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CPT1Acarnitine palmitoyltransferase 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| DHHdesert hedgehog signaling molecule | Väga sageli (80–99%) | Esineb 1 haiguses |
| EMDemerin | Väga sageli (80–99%) | Esineb 1 haiguses |
| FHL1four and a half LIM domains 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| HSPB1heat shock protein family B (small) member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| LGI4leucine rich repeat LGI family member 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LMNAlamin A/C | Väga sageli (80–99%) | Esineb 1 haiguses |
| MORC2MORC family CW-type zinc finger 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX11Bperoxisomal biogenesis factor 11 beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX14peroxisomal biogenesis factor 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX19peroxisomal biogenesis factor 19 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX26peroxisomal biogenesis factor 26 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX3peroxisomal biogenesis factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM43transmembrane protein 43 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRIM37tripartite motif containing 37 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACADMacyl-CoA dehydrogenase medium chain | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 134 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Sageli (30–79%) | Esineb 2 haiguses |
| ADSS1adenylosuccinate synthase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Sageli (30–79%) | Esineb 1 haiguses |
| DBHdopamine beta-hydroxylase | Sageli (30–79%) | Esineb 1 haiguses |
| DOCK3dedicator of cytokinesis 3 | Sageli (30–79%) | Esineb 1 haiguses |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sageli (30–79%) | Esineb 2 haiguses |
| ERCC5ERCC excision repair 5, endonuclease | Sageli (30–79%) | Esineb 2 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sageli (30–79%) | Esineb 1 haiguses |
| FUZfuzzy planar cell polarity protein | Sageli (30–79%) | Esineb 1 haiguses |
| GDAP1ganglioside induced differentiation associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GFERgrowth factor, augmenter of liver regeneration | Sageli (30–79%) | Esineb 1 haiguses |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HINT1histidine triad nucleotide binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ITGA7integrin subunit alpha 7 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNE3potassium voltage-gated channel subfamily E regulatory subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| LPIN1lipin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LRP12LDL receptor related protein 12 | Sageli (30–79%) | Esineb 1 haiguses |
| MAGEL2MAGE family member L2 | Sageli (30–79%) | Esineb 1 haiguses |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Sageli (30–79%) | Esineb 1 haiguses |
| MFN2mitofusin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MRE11MRE11 double strand break repair nuclease | Sageli (30–79%) | Esineb 2 haiguses |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Sageli (30–79%) | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MYL2myosin light chain 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MYPNmyopalladin | Sageli (30–79%) | Esineb 1 haiguses |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Sageli (30–79%) | Esineb 1 haiguses |
| PRNPprion protein (Kanno blood group) | Sageli (30–79%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Sageli (30–79%) | Esineb 1 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sageli (30–79%) | Esineb 1 haiguses |
| SELENONselenoprotein N | Sageli (30–79%) | Esineb 1 haiguses |
| SIM1SIM bHLH transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TAF1TATA-box binding protein associated factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBCKTBC1 domain containing kinase | Sageli (30–79%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Sageli (30–79%) | Esineb 2 haiguses |
| TPM3tropomyosin 3 | Sageli (30–79%) | Esineb 2 haiguses |
| VANGL1VANGL planar cell polarity protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| VPS13Avacuolar protein sorting 13 homolog A | Sageli (30–79%) | Esineb 1 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACTL6Bactin like 6B | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDK19cyclin dependent kinase 19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CELF2CUGBP Elav-like family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLTCclathrin heavy chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DALRD3DALR anticodon binding domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDB2damage specific DNA binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDCdopa decarboxylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNASE1L3deoxyribonuclease 1L3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNM1dynamin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYSFdysferlin | Mõnikord (5–29%) | Esineb 1 haiguses |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO28F-box protein 28 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF12fibroblast growth factor 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FKBP10FKBP prolyl isomerase 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FKRPfukutin related protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXG1forkhead box G1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FZR1fizzy and cell division cycle 20 related 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Mõnikord (5–29%) | Esineb 1 haiguses |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HEXBhexosaminidase subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Mõnikord (5–29%) | Esineb 2 haiguses |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMA2laminin subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED25mediator complex subunit 25 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NECAP1NECAP endocytosis associated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PACS2phosphofurin acidic cluster sorting protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDHBpyruvate dehydrogenase E1 subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGAP2post-GPI attachment to proteins 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POMT2protein O-mannosyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PSMB8proteasome 20S subunit beta 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC13A5solute carrier family 13 member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC1A2solute carrier family 1 member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC38A3solute carrier family 38 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STAC3SH3 and cysteine rich domain 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNJ1synaptojanin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SZT2SZT2 subunit of KICSTOR complex | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRAK1trafficking kinesin protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBA5ubiquitin like modifier activating enzyme 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFSP2UFM1 specific peptidase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VCPvalosin containing protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| XPAXPA, DNA damage recognition and repair factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Mõnikord (5–29%) | Esineb 1 haiguses |
| APOBapolipoprotein B | Pole registreeritud | Esineb 1 haiguses |
| ATMATM serine/threonine kinase | Pole registreeritud | Esineb 1 haiguses |
| CNTNAP2contactin associated protein 2 | Pole registreeritud | Esineb 1 haiguses |
| FXNfrataxin | Pole registreeritud | Esineb 1 haiguses |
| GBE11,4-alpha-glucan branching enzyme 1 | Pole registreeritud | Esineb 1 haiguses |
| PITX3paired like homeodomain 3 | Pole registreeritud | Esineb 1 haiguses |
| SAR1Bsecretion associated Ras related GTPase 1B | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast