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Tunnus
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.
Kokkuvõte
- Teised nimetused
- Arc de cercle, Opisthotonos
OpisthotonusHP:0002179
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Read the genes linked to Opisthotonus, and the rest of your genome, with one test.
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Telli oma Genome Test68 geeni on seotud tunnusega Opisthotonus
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Opisthotonus. 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 |
|---|---|---|
| ASPMassembly factor for spindle microtubules | Alati | Esineb 1 haiguses |
| BCKDHBbranched chain keto acid dehydrogenase E1 subunit beta | Alati | Esineb 1 haiguses |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| DBTdihydrolipoamide branched chain transacylase E2 | Alati | Esineb 1 haiguses |
| GLYCTKglycerate kinase | Alati | Esineb 1 haiguses |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alati | Esineb 1 haiguses |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alati | Esineb 1 haiguses |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Alati | Esineb 1 haiguses |
| MOCS2molybdenum cofactor synthesis 2 | Alati | Esineb 1 haiguses |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Alati | Esineb 1 haiguses |
| NFU1NFU1 iron-sulfur cluster scaffold | Alati | Esineb 1 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 1 haiguses |
| PLCB4phospholipase C beta 4 | Alati | Esineb 1 haiguses |
| TSEN2tRNA splicing endonuclease subunit 2 | Alati | Esineb 1 haiguses |
| VPS50VPS50 subunit of EARP/GARPII complex | Alati | Esineb 1 haiguses |
| VPS53VPS53 subunit of GARP complex | Alati | Esineb 1 haiguses |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Sageli (30–79%) | Esineb 2 haiguses |
| CLPBClpB family mitochondrial disaggregase | Sageli (30–79%) | Esineb 2 haiguses |
| DNM1dynamin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DTYMKdeoxythymidylate kinase | Sageli (30–79%) | Esineb 1 haiguses |
| EXTL3exostosin like glycosyltransferase 3 | Sageli (30–79%) | Esineb 2 haiguses |
| GBA1glucosylceramidase beta 1 | Sageli (30–79%) | Esineb 3 haiguses |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Sageli (30–79%) | Esineb 2 haiguses |
| NDE1nudE neurodevelopment protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PTS6-pyruvoyltetrahydropterin synthase | Sageli (30–79%) | Esineb 1 haiguses |
| SLC19A3solute carrier family 19 member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SV2Asynaptic vesicle glycoprotein 2A | Sageli (30–79%) | Esineb 1 haiguses |
| TNRtenascin R | Sageli (30–79%) | Esineb 1 haiguses |
| AASSaminoadipate-semialdehyde synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP13A2ATPase cation transporting 13A2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERLIN1ER lipid raft associated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FUSFUS RNA binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| GALCgalactosylceramidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 28 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PANK2pantothenate kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POU3F3POU class 3 homeobox 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PSAPprosaposin | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIGMAR1sigma receptor chaperone 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC39A14solute carrier family 39 member 14 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SORDsorbitol dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TARDBPTAR DNA binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| TOE1target of EGR1, exonuclease | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRMT2BtRNA methyltransferase 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBQLN2ubiquilin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UGDHUDP-glucose 6-dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADSLadenylosuccinate lyase | Pole registreeritud | Esineb 1 haiguses |
| ASPAaspartoacylase | Pole registreeritud | Esineb 1 haiguses |
| CRLF1cytokine receptor like factor 1 | Pole registreeritud | Esineb 1 haiguses |
| CYB5R3cytochrome b5 reductase 3 | Pole registreeritud | Esineb 1 haiguses |
| GCDHglutaryl-CoA dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Pole registreeritud | Esineb 1 haiguses |
| MOCS1molybdenum cofactor synthesis 1 | Pole registreeritud | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Pole registreeritud | Esineb 1 haiguses |
| TSEN54tRNA splicing endonuclease subunit 54 | Pole registreeritud | Esineb 1 haiguses |
| TUFMTu translation elongation factor, mitochondrial | 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.
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.
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Logi sisseKüsiAlustaalates 449 $
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast