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Piirre
Opisthotonus
Opisthotonus is defined as a dramatic abnormal posture due to spastic contraction of the extensor muscles of the neck, trunk, and lower extremities that produces a severe backward arching from neck to heel. In most cases, the trunk is elevated off the ground by a few inches. It is usually sudden in onset and can be sustained or repetitive. It can be considered a variant of decerebrate posturing involving a hyperextension of the neck, back, and limbs.
Yhteenveto
- Tunnetaan myös nimellä
- Arc de cercle, Opisthotonos
- Elimistön järjestelmä
- Abnormality of the musculoskeletal systemAbnormality of the nervous system
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Tämä sivu datana
Lisää sivun osoitteen perään .json tai pyydä application/json-muotoa, niin saat sivun JSON-muodossa.
library(jsonlite)
url <- "https://dantelabs.com/traits/opisthotonus.json"
page <- fromJSON(url)
page$trait$nameOpisthotonusHP:0002179
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Lue Opisthotonus-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
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Tilaa Genome Test47 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Amyotrophic Lateral Sclerosis (ALS)Reads 8 of these genesALS2FUSSIGMAR1SPG11SPTLC1SPTLC2About this report →
- Classic Organic AciduriasReads 3 of these genesGCDHMCCC1MCCC2About this report →
- Inherited Neurodegenerative DisordersReads 20 of these genesITPR1OPA1TSEN2ALS2DTYMKATP13A2About this report →
- Maple Syrup Urine DiseaseReads 2 of these genesBCKDHBDBTAbout this report →
Show 43 more reports
- Molybdenum Cofactor & Isolated Sulfite Oxidase DeficiencyReads 2 of these genesMOCS2MOCS1About this report →
- Auriculocondylar Syndrome 2 (PLCB4)Reads 1 of these genesPLCB4About this report →
- Canavan DiseaseReads 1 of these genesASPAAbout this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- HyperlysinaemiaReads 1 of these genesAASSAbout this report →
- Krabbe DiseaseReads 1 of these genesGALCAbout this report →
- NDE1-Related MicrolissencephalyReads 1 of these genesNDE1About this report →
- OPA1-Related Optic AtrophyReads 1 of these genesOPA1About this report →
- TNR-Related Neurodevelopmental Disorder with SpasticityReads 1 of these genesTNRAbout this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 4 of these genesTSEN2VPS53TOE1TSEN54About this report →
- Purine & Pyrimidine Metabolism DisordersReads 2 of these genesADSLHPRT1About this report →
- Hereditary Manganese Transporter DisordersReads 1 of these genesSLC39A14About this report →
- Metachromatic LeukodystrophyReads 1 of these genesPSAPAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 10 of these genesOPA1SLC19A3GALCPSAPSIGMAR1SORDAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 3 of these genesSPTLC1SPTLC2CRLF1About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 2 of these genesATP13A2PANK2About this report →
- Spinal Muscular AtrophyReads 3 of these genesTSEN2SIGMAR1TSEN54About this report →
- Lysosomal Storage DiseaseReads 4 of these genesGBA1GALCGNEPSAPAbout this report →
- Parkinson DiseaseReads 2 of these genesGBA1ATP13A2About this report →
- Thiamine Transporter and Metabolism DisordersReads 1 of these genesSLC19A3About this report →
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsReads 1 of these genesCYB5R3About this report →
- Lissencephaly Spectrum DisordersReads 2 of these genesNDE1PAFAH1B1About this report →
- Hereditary Spastic ParaplegiaReads 3 of these genesATP13A2ERLIN1SPG11About this report →
- Epilepsy (Full Panel)Reads 5 of these genesKCNC2PIGADNM1GRIN1UGDHAbout this report →
- Primary Mitochondrial DiseaseReads 4 of these genesCARS2NDUFA8OPA1TUFMAbout this report →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesSIGMAR1SORDSPG11About this report →
- Other Inherited LeukodystrophiesReads 3 of these genesGALCPSAPASPAAbout this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesITPR1About this report →
- Congenital Disorders of GlycosylationReads 3 of these genesPIGAALG11GNEAbout this report →
- BH4 Deficiency & Monoamine Neurotransmitter DisordersReads 1 of these genesPTSAbout this report →
- Severe Congenital NeutropeniaReads 1 of these genesCLPBAbout this report →
- Urea Cycle DisorderReads 1 of these genesMCCC1About this report →
- Hereditary Optic NeuropathyReads 1 of these genesOPA1About this report →
- Neuronal Ceroid LipofuscinosisReads 1 of these genesATP13A2About this report →
- Autosomal Recessive Primary MicrocephalyReads 1 of these genesASPMAbout this report →
- Leigh SyndromeReads 2 of these genesOPA1SLC19A3About this report →
- Distal MyopathiesReads 1 of these genesGNEAbout this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGAAbout this report →
- Intellectual DisabilityReads 3 of these genesGRIN1GRIK2SETBP1About this report →
- Inherited ThrombocytopeniasReads 1 of these genesGNEAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesITPR1About this report →
- Dilated CardiomyopathyReads 1 of these genesSYNE1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesSYNE1About this report →
Lue Opisthotonus-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
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Tilaa Genome Test68 geeniä, jotka liittyvät piirteeseen Opisthotonus
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Opisthotonus esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ASPMassembly factor for spindle microtubules | Aina | 1 sairaudessa |
| BCKDHBbranched chain keto acid dehydrogenase E1 subunit beta | Aina | 1 sairaudessa |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| DBTdihydrolipoamide branched chain transacylase E2 | Aina | 1 sairaudessa |
| GLYCTKglycerate kinase | Aina | 1 sairaudessa |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Aina | 1 sairaudessa |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Aina | 1 sairaudessa |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Aina | 1 sairaudessa |
| MOCS2molybdenum cofactor synthesis 2 | Aina | 1 sairaudessa |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Aina | 1 sairaudessa |
| NFU1NFU1 iron-sulfur cluster scaffold | Aina | 1 sairaudessa |
| OPA1OPA1 mitochondrial dynamin like GTPase | Aina | 1 sairaudessa |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Aina | 1 sairaudessa |
| PLCB4phospholipase C beta 4 | Aina | 1 sairaudessa |
| TSEN2tRNA splicing endonuclease subunit 2 | Aina | 1 sairaudessa |
| VPS50VPS50 subunit of EARP/GARPII complex | Aina | 1 sairaudessa |
| VPS53VPS53 subunit of GARP complex | Aina | 1 sairaudessa |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Usein (30–79%) | 2 sairaudessa |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Usein (30–79%) | 2 sairaudessa |
| CLPBClpB family mitochondrial disaggregase | Usein (30–79%) | 2 sairaudessa |
| DNM1dynamin 1 | Usein (30–79%) | 1 sairaudessa |
| DTYMKdeoxythymidylate kinase | Usein (30–79%) | 1 sairaudessa |
| EXTL3exostosin like glycosyltransferase 3 | Usein (30–79%) | 2 sairaudessa |
| GBA1glucosylceramidase beta 1 | Usein (30–79%) | 3 sairaudessa |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Usein (30–79%) | 1 sairaudessa |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Usein (30–79%) | 2 sairaudessa |
| NDE1nudE neurodevelopment protein 1 | Usein (30–79%) | 1 sairaudessa |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Usein (30–79%) | 1 sairaudessa |
| PTS6-pyruvoyltetrahydropterin synthase | Usein (30–79%) | 1 sairaudessa |
| SLC19A3solute carrier family 19 member 3 | Usein (30–79%) | 1 sairaudessa |
| SV2Asynaptic vesicle glycoprotein 2A | Usein (30–79%) | 1 sairaudessa |
| TNRtenascin R | Usein (30–79%) | 1 sairaudessa |
| AASSaminoadipate-semialdehyde synthase | Joskus (5–29%) | 1 sairaudessa |
| ATP13A2ATPase cation transporting 13A2 | Joskus (5–29%) | 1 sairaudessa |
| ERLIN1ER lipid raft associated 1 | Joskus (5–29%) | 1 sairaudessa |
| FUSFUS RNA binding protein | Joskus (5–29%) | 1 sairaudessa |
| GALCgalactosylceramidase | Joskus (5–29%) | 1 sairaudessa |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Joskus (5–29%) | 1 sairaudessa |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Joskus (5–29%) | 1 sairaudessa |
Näytä 28 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| PANK2pantothenate kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| POU3F3POU class 3 homeobox 3 | Joskus (5–29%) | 1 sairaudessa |
| PSAPprosaposin | Joskus (5–29%) | 1 sairaudessa |
| SIGMAR1sigma receptor chaperone 1 | Joskus (5–29%) | 1 sairaudessa |
| SLC39A14solute carrier family 39 member 14 | Joskus (5–29%) | 1 sairaudessa |
| SORDsorbitol dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Joskus (5–29%) | 1 sairaudessa |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Joskus (5–29%) | 1 sairaudessa |
| TARDBPTAR DNA binding protein | Joskus (5–29%) | 1 sairaudessa |
| TOE1target of EGR1, exonuclease | Joskus (5–29%) | 1 sairaudessa |
| TRMT2BtRNA methyltransferase 2B | Joskus (5–29%) | 1 sairaudessa |
| UBQLN2ubiquilin 2 | Joskus (5–29%) | 1 sairaudessa |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Joskus (5–29%) | 1 sairaudessa |
| UGDHUDP-glucose 6-dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| ADSLadenylosuccinate lyase | Ei kirjattu | 1 sairaudessa |
| ASPAaspartoacylase | Ei kirjattu | 1 sairaudessa |
| CRLF1cytokine receptor like factor 1 | Ei kirjattu | 1 sairaudessa |
| CYB5R3cytochrome b5 reductase 3 | Ei kirjattu | 1 sairaudessa |
| GCDHglutaryl-CoA dehydrogenase | Ei kirjattu | 1 sairaudessa |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Ei kirjattu | 1 sairaudessa |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Ei kirjattu | 1 sairaudessa |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Ei kirjattu | 1 sairaudessa |
| MOCS1molybdenum cofactor synthesis 1 | Ei kirjattu | 1 sairaudessa |
| SETBP1SET binding protein 1 | Ei kirjattu | 1 sairaudessa |
| TSEN54tRNA splicing endonuclease subunit 54 | Ei kirjattu | 1 sairaudessa |
| TUFMTu translation elongation factor, mitochondrial | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.21-777c9289.
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
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