Trait
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.
Summary
- Also called
- Arc de cercle, Opisthotonos
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test68 genes linked to Opisthotonus
Changes in these genes cause rare conditions in which Opisthotonus is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ASPMassembly factor for spindle microtubules | Always | In 1 condition |
| BCKDHBbranched chain keto acid dehydrogenase E1 subunit beta | Always | In 1 condition |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| DBTdihydrolipoamide branched chain transacylase E2 | Always | In 1 condition |
| GLYCTKglycerate kinase | Always | In 1 condition |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Always | In 1 condition |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Always | In 1 condition |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Always | In 1 condition |
| MOCS2molybdenum cofactor synthesis 2 | Always | In 1 condition |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Always | In 1 condition |
| NFU1NFU1 iron-sulfur cluster scaffold | Always | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 1 condition |
| PLCB4phospholipase C beta 4 | Always | In 1 condition |
| TSEN2tRNA splicing endonuclease subunit 2 | Always | In 1 condition |
| VPS50VPS50 subunit of EARP/GARPII complex | Always | In 1 condition |
| VPS53VPS53 subunit of GARP complex | Always | In 1 condition |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Often (30–79%) | In 2 conditions |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Often (30–79%) | In 2 conditions |
| CLPBClpB family mitochondrial disaggregase | Often (30–79%) | In 2 conditions |
| DNM1dynamin 1 | Often (30–79%) | In 1 condition |
| DTYMKdeoxythymidylate kinase | Often (30–79%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Often (30–79%) | In 2 conditions |
| GBA1glucosylceramidase beta 1 | Often (30–79%) | In 3 conditions |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Often (30–79%) | In 1 condition |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Often (30–79%) | In 2 conditions |
| NDE1nudE neurodevelopment protein 1 | Often (30–79%) | In 1 condition |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Often (30–79%) | In 1 condition |
| PTS6-pyruvoyltetrahydropterin synthase | Often (30–79%) | In 1 condition |
| SLC19A3solute carrier family 19 member 3 | Often (30–79%) | In 1 condition |
| SV2Asynaptic vesicle glycoprotein 2A | Often (30–79%) | In 1 condition |
| TNRtenascin R | Often (30–79%) | In 1 condition |
| AASSaminoadipate-semialdehyde synthase | Sometimes (5–29%) | In 1 condition |
| ATP13A2ATPase cation transporting 13A2 | Sometimes (5–29%) | In 1 condition |
| ERLIN1ER lipid raft associated 1 | Sometimes (5–29%) | In 1 condition |
| FUSFUS RNA binding protein | Sometimes (5–29%) | In 1 condition |
| GALCgalactosylceramidase | Sometimes (5–29%) | In 1 condition |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Sometimes (5–29%) | In 1 condition |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Sometimes (5–29%) | In 1 condition |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Sometimes (5–29%) | In 1 condition |
Show 28 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PANK2pantothenate kinase 2 | Sometimes (5–29%) | In 1 condition |
| POU3F3POU class 3 homeobox 3 | Sometimes (5–29%) | In 1 condition |
| PSAPprosaposin | Sometimes (5–29%) | In 1 condition |
| SIGMAR1sigma receptor chaperone 1 | Sometimes (5–29%) | In 1 condition |
| SLC39A14solute carrier family 39 member 14 | Sometimes (5–29%) | In 1 condition |
| SORDsorbitol dehydrogenase | Sometimes (5–29%) | In 1 condition |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Sometimes (5–29%) | In 1 condition |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Sometimes (5–29%) | In 1 condition |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Sometimes (5–29%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Sometimes (5–29%) | In 1 condition |
| TARDBPTAR DNA binding protein | Sometimes (5–29%) | In 1 condition |
| TOE1target of EGR1, exonuclease | Sometimes (5–29%) | In 1 condition |
| TRMT2BtRNA methyltransferase 2B | Sometimes (5–29%) | In 1 condition |
| UBQLN2ubiquilin 2 | Sometimes (5–29%) | In 1 condition |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Sometimes (5–29%) | In 1 condition |
| UGDHUDP-glucose 6-dehydrogenase | Sometimes (5–29%) | In 1 condition |
| ADSLadenylosuccinate lyase | Not recorded | In 1 condition |
| ASPAaspartoacylase | Not recorded | In 1 condition |
| CRLF1cytokine receptor like factor 1 | Not recorded | In 1 condition |
| CYB5R3cytochrome b5 reductase 3 | Not recorded | In 1 condition |
| GCDHglutaryl-CoA dehydrogenase | Not recorded | In 1 condition |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Not recorded | In 1 condition |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Not recorded | In 1 condition |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Not recorded | In 1 condition |
| MOCS1molybdenum cofactor synthesis 1 | Not recorded | In 1 condition |
| SETBP1SET binding protein 1 | Not recorded | In 1 condition |
| TSEN54tRNA splicing endonuclease subunit 54 | Not recorded | In 1 condition |
| TUFMTu translation elongation factor, mitochondrial | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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