{
  "url": "https://dantelabs.com/traits/opisthotonus",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "opisthotonus",
    "id": "HP:0002179",
    "name": "Opisthotonus",
    "definition": "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.",
    "synonyms": [
      "Arc de cercle",
      "Opisthotonos"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      },
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      }
    ],
    "broader": [
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "url": "https://dantelabs.com/traits/spasticity"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "aspm",
        "symbol": "ASPM",
        "hgnc": "HGNC:19048",
        "name": "assembly factor for spindle microtubules",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aspm"
      },
      {
        "slug": "bckdhb",
        "symbol": "BCKDHB",
        "hgnc": "HGNC:987",
        "name": "branched chain keto acid dehydrogenase E1 subunit beta",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bckdhb"
      },
      {
        "slug": "cars2",
        "symbol": "CARS2",
        "hgnc": "HGNC:25695",
        "name": "cysteinyl-tRNA synthetase 2, mitochondrial",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cars2"
      },
      {
        "slug": "dbt",
        "symbol": "DBT",
        "hgnc": "HGNC:2698",
        "name": "dihydrolipoamide branched chain transacylase E2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dbt"
      },
      {
        "slug": "glyctk",
        "symbol": "GLYCTK",
        "hgnc": "HGNC:24247",
        "name": "glycerate kinase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/glyctk"
      },
      {
        "slug": "inpp4a",
        "symbol": "INPP4A",
        "hgnc": "HGNC:6074",
        "name": "inositol polyphosphate-4-phosphatase type I A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/inpp4a"
      },
      {
        "slug": "itpr1",
        "symbol": "ITPR1",
        "hgnc": "HGNC:6180",
        "name": "inositol 1,4,5-trisphosphate receptor type 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itpr1"
      },
      {
        "slug": "kcnc2",
        "symbol": "KCNC2",
        "hgnc": "HGNC:6234",
        "name": "potassium voltage-gated channel subfamily C member 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnc2"
      },
      {
        "slug": "mocs2",
        "symbol": "MOCS2",
        "hgnc": "HGNC:7193",
        "name": "molybdenum cofactor synthesis 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mocs2"
      },
      {
        "slug": "ndufa8",
        "symbol": "NDUFA8",
        "hgnc": "HGNC:7692",
        "name": "NADH:ubiquinone oxidoreductase subunit A8",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufa8"
      },
      {
        "slug": "nfu1",
        "symbol": "NFU1",
        "hgnc": "HGNC:16287",
        "name": "NFU1 iron-sulfur cluster scaffold",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nfu1"
      },
      {
        "slug": "opa1",
        "symbol": "OPA1",
        "hgnc": "HGNC:8140",
        "name": "OPA1 mitochondrial dynamin like GTPase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/opa1"
      },
      {
        "slug": "piga",
        "symbol": "PIGA",
        "hgnc": "HGNC:8957",
        "name": "phosphatidylinositol glycan anchor biosynthesis class A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/piga"
      },
      {
        "slug": "plcb4",
        "symbol": "PLCB4",
        "hgnc": "HGNC:9059",
        "name": "phospholipase C beta 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plcb4"
      },
      {
        "slug": "tsen2",
        "symbol": "TSEN2",
        "hgnc": "HGNC:28422",
        "name": "tRNA splicing endonuclease subunit 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsen2"
      },
      {
        "slug": "vps50",
        "symbol": "VPS50",
        "hgnc": "HGNC:25956",
        "name": "VPS50 subunit of EARP/GARPII complex",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps50"
      },
      {
        "slug": "vps53",
        "symbol": "VPS53",
        "hgnc": "HGNC:25608",
        "name": "VPS53 subunit of GARP complex",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps53"
      },
      {
        "slug": "alg11",
        "symbol": "ALG11",
        "hgnc": "HGNC:32456",
        "name": "ALG11 alpha-1,2-mannosyltransferase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/alg11"
      },
      {
        "slug": "als2",
        "symbol": "ALS2",
        "hgnc": "HGNC:443",
        "name": "alsin Rho guanine nucleotide exchange factor ALS2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/als2"
      },
      {
        "slug": "clpb",
        "symbol": "CLPB",
        "hgnc": "HGNC:30664",
        "name": "ClpB family mitochondrial disaggregase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/clpb"
      },
      {
        "slug": "dnm1",
        "symbol": "DNM1",
        "hgnc": "HGNC:2972",
        "name": "dynamin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnm1"
      },
      {
        "slug": "dtymk",
        "symbol": "DTYMK",
        "hgnc": "HGNC:3061",
        "name": "deoxythymidylate kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dtymk"
      },
      {
        "slug": "extl3",
        "symbol": "EXTL3",
        "hgnc": "HGNC:3518",
        "name": "exostosin like glycosyltransferase 3",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/extl3"
      },
      {
        "slug": "gba1",
        "symbol": "GBA1",
        "hgnc": "HGNC:4177",
        "name": "glucosylceramidase beta 1",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/gba1"
      },
      {
        "slug": "grin1",
        "symbol": "GRIN1",
        "hgnc": "HGNC:4584",
        "name": "glutamate ionotropic receptor NMDA type subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grin1"
      },
      {
        "slug": "kcnj6",
        "symbol": "KCNJ6",
        "hgnc": "HGNC:6267",
        "name": "potassium inwardly rectifying channel subfamily J member 6",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kcnj6"
      },
      {
        "slug": "nde1",
        "symbol": "NDE1",
        "hgnc": "HGNC:17619",
        "name": "nudE neurodevelopment protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nde1"
      },
      {
        "slug": "pi4k2a",
        "symbol": "PI4K2A",
        "hgnc": "HGNC:30031",
        "name": "phosphatidylinositol 4-kinase type 2 alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pi4k2a"
      },
      {
        "slug": "pts",
        "symbol": "PTS",
        "hgnc": "HGNC:9689",
        "name": "6-pyruvoyltetrahydropterin synthase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pts"
      },
      {
        "slug": "slc19a3",
        "symbol": "SLC19A3",
        "hgnc": "HGNC:16266",
        "name": "solute carrier family 19 member 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc19a3"
      },
      {
        "slug": "sv2a",
        "symbol": "SV2A",
        "hgnc": "HGNC:20566",
        "name": "synaptic vesicle glycoprotein 2A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sv2a"
      },
      {
        "slug": "tnr",
        "symbol": "TNR",
        "hgnc": "HGNC:11953",
        "name": "tenascin R",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnr"
      },
      {
        "slug": "aass",
        "symbol": "AASS",
        "hgnc": "HGNC:17366",
        "name": "aminoadipate-semialdehyde synthase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aass"
      },
      {
        "slug": "atp13a2",
        "symbol": "ATP13A2",
        "hgnc": "HGNC:30213",
        "name": "ATPase cation transporting 13A2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp13a2"
      },
      {
        "slug": "erlin1",
        "symbol": "ERLIN1",
        "hgnc": "HGNC:16947",
        "name": "ER lipid raft associated 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/erlin1"
      },
      {
        "slug": "fus",
        "symbol": "FUS",
        "hgnc": "HGNC:4010",
        "name": "FUS RNA binding protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fus"
      },
      {
        "slug": "galc",
        "symbol": "GALC",
        "hgnc": "HGNC:4115",
        "name": "galactosylceramidase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/galc"
      },
      {
        "slug": "gne",
        "symbol": "GNE",
        "hgnc": "HGNC:23657",
        "name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gne"
      },
      {
        "slug": "grik2",
        "symbol": "GRIK2",
        "hgnc": "HGNC:4580",
        "name": "glutamate ionotropic receptor kainate type subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grik2"
      },
      {
        "slug": "pafah1b1",
        "symbol": "PAFAH1B1",
        "hgnc": "HGNC:8574",
        "name": "platelet activating factor acetylhydrolase 1b regulatory subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pafah1b1"
      },
      {
        "slug": "pank2",
        "symbol": "PANK2",
        "hgnc": "HGNC:15894",
        "name": "pantothenate kinase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pank2"
      },
      {
        "slug": "pou3f3",
        "symbol": "POU3F3",
        "hgnc": "HGNC:9216",
        "name": "POU class 3 homeobox 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pou3f3"
      },
      {
        "slug": "psap",
        "symbol": "PSAP",
        "hgnc": "HGNC:9498",
        "name": "prosaposin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/psap"
      },
      {
        "slug": "sigmar1",
        "symbol": "SIGMAR1",
        "hgnc": "HGNC:8157",
        "name": "sigma receptor chaperone 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sigmar1"
      },
      {
        "slug": "slc39a14",
        "symbol": "SLC39A14",
        "hgnc": "HGNC:20858",
        "name": "solute carrier family 39 member 14",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc39a14"
      },
      {
        "slug": "sord",
        "symbol": "SORD",
        "hgnc": "HGNC:11184",
        "name": "sorbitol dehydrogenase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sord"
      },
      {
        "slug": "spg11",
        "symbol": "SPG11",
        "hgnc": "HGNC:11226",
        "name": "SPG11 vesicle trafficking associated, spatacsin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spg11"
      },
      {
        "slug": "sptlc1",
        "symbol": "SPTLC1",
        "hgnc": "HGNC:11277",
        "name": "serine palmitoyltransferase long chain base subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptlc1"
      },
      {
        "slug": "sptlc2",
        "symbol": "SPTLC2",
        "hgnc": "HGNC:11278",
        "name": "serine palmitoyltransferase long chain base subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptlc2"
      },
      {
        "slug": "syne1",
        "symbol": "SYNE1",
        "hgnc": "HGNC:17089",
        "name": "spectrin repeat containing nuclear envelope protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syne1"
      },
      {
        "slug": "tardbp",
        "symbol": "TARDBP",
        "hgnc": "HGNC:11571",
        "name": "TAR DNA binding protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tardbp"
      },
      {
        "slug": "toe1",
        "symbol": "TOE1",
        "hgnc": "HGNC:15954",
        "name": "target of EGR1, exonuclease",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/toe1"
      },
      {
        "slug": "trmt2b",
        "symbol": "TRMT2B",
        "hgnc": "HGNC:25748",
        "name": "tRNA methyltransferase 2B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trmt2b"
      },
      {
        "slug": "ubqln2",
        "symbol": "UBQLN2",
        "hgnc": "HGNC:12509",
        "name": "ubiquilin 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ubqln2"
      },
      {
        "slug": "ufc1",
        "symbol": "UFC1",
        "hgnc": "HGNC:26941",
        "name": "ubiquitin-fold modifier conjugating enzyme 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ufc1"
      },
      {
        "slug": "ugdh",
        "symbol": "UGDH",
        "hgnc": "HGNC:12525",
        "name": "UDP-glucose 6-dehydrogenase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ugdh"
      },
      {
        "slug": "adsl",
        "symbol": "ADSL",
        "hgnc": "HGNC:291",
        "name": "adenylosuccinate lyase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adsl"
      },
      {
        "slug": "aspa",
        "symbol": "ASPA",
        "hgnc": "HGNC:756",
        "name": "aspartoacylase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aspa"
      },
      {
        "slug": "crlf1",
        "symbol": "CRLF1",
        "hgnc": "HGNC:2364",
        "name": "cytokine receptor like factor 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crlf1"
      },
      {
        "slug": "cyb5r3",
        "symbol": "CYB5R3",
        "hgnc": "HGNC:2873",
        "name": "cytochrome b5 reductase 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyb5r3"
      },
      {
        "slug": "gcdh",
        "symbol": "GCDH",
        "hgnc": "HGNC:4189",
        "name": "glutaryl-CoA dehydrogenase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gcdh"
      },
      {
        "slug": "hprt1",
        "symbol": "HPRT1",
        "hgnc": "HGNC:5157",
        "name": "hypoxanthine phosphoribosyltransferase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hprt1"
      },
      {
        "slug": "mccc1",
        "symbol": "MCCC1",
        "hgnc": "HGNC:6936",
        "name": "methylcrotonyl-CoA carboxylase subunit 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mccc1"
      },
      {
        "slug": "mccc2",
        "symbol": "MCCC2",
        "hgnc": "HGNC:6937",
        "name": "methylcrotonyl-CoA carboxylase subunit 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mccc2"
      },
      {
        "slug": "mocs1",
        "symbol": "MOCS1",
        "hgnc": "HGNC:7190",
        "name": "molybdenum cofactor synthesis 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mocs1"
      },
      {
        "slug": "setbp1",
        "symbol": "SETBP1",
        "hgnc": "HGNC:15573",
        "name": "SET binding protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/setbp1"
      },
      {
        "slug": "tsen54",
        "symbol": "TSEN54",
        "hgnc": "HGNC:27561",
        "name": "tRNA splicing endonuclease subunit 54",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsen54"
      },
      {
        "slug": "tufm",
        "symbol": "TUFM",
        "hgnc": "HGNC:12420",
        "name": "Tu translation elongation factor, mitochondrial",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tufm"
      }
    ]
  }
}