{
  "url": "https://dantelabs.com/traits/upper-motor-neuron-dysfunction",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "upper-motor-neuron-dysfunction",
    "id": "HP:0002493",
    "name": "Upper motor neuron dysfunction",
    "definition": "A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.",
    "synonyms": [
      "Corticospinal tract dysfunction",
      "Pyramidal tract dysfunction"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-central-motor-function",
        "name": "Abnormal central motor function",
        "url": "https://dantelabs.com/traits/abnormal-central-motor-function"
      }
    ],
    "narrower": [
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "genes": 710,
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "genes": 213,
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "weakness-due-to-upper-motor-neuron-dysfunction",
        "name": "Weakness due to upper motor neuron dysfunction",
        "genes": 8,
        "url": "https://dantelabs.com/traits/weakness-due-to-upper-motor-neuron-dysfunction"
      },
      {
        "slug": "dysfunction-of-lateral-corticospinal-tracts",
        "name": "Dysfunction of lateral corticospinal tracts",
        "genes": 4,
        "url": "https://dantelabs.com/traits/dysfunction-of-lateral-corticospinal-tracts"
      }
    ],
    "genes": [
      {
        "slug": "bcas3",
        "symbol": "BCAS3",
        "hgnc": "HGNC:14347",
        "name": "BCAS3 microtubule associated cell migration factor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bcas3"
      },
      {
        "slug": "rbm28",
        "symbol": "RBM28",
        "hgnc": "HGNC:21863",
        "name": "RNA binding motif protein 28",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rbm28"
      },
      {
        "slug": "atxn3",
        "symbol": "ATXN3",
        "hgnc": "HGNC:7106",
        "name": "ataxin 3",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/atxn3"
      },
      {
        "slug": "galc",
        "symbol": "GALC",
        "hgnc": "HGNC:4115",
        "name": "galactosylceramidase",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/galc"
      },
      {
        "slug": "mthfr",
        "symbol": "MTHFR",
        "hgnc": "HGNC:7436",
        "name": "methylenetetrahydrofolate reductase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mthfr"
      },
      {
        "slug": "spg7",
        "symbol": "SPG7",
        "hgnc": "HGNC:11237",
        "name": "SPG7 matrix AAA peptidase subunit, paraplegin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spg7"
      },
      {
        "slug": "syne1",
        "symbol": "SYNE1",
        "hgnc": "HGNC:17089",
        "name": "spectrin repeat containing nuclear envelope protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syne1"
      },
      {
        "slug": "vps13d",
        "symbol": "VPS13D",
        "hgnc": "HGNC:23595",
        "name": "vacuolar protein sorting 13 homolog D",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps13d"
      },
      {
        "slug": "vps41",
        "symbol": "VPS41",
        "hgnc": "HGNC:12713",
        "name": "VPS41 subunit of HOPS complex",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps41"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "hgnc": "HGNC:9722",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aldh18a1"
      },
      {
        "slug": "dars2",
        "symbol": "DARS2",
        "hgnc": "HGNC:25538",
        "name": "aspartyl-tRNA synthetase 2, mitochondrial",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dars2"
      },
      {
        "slug": "fa2h",
        "symbol": "FA2H",
        "hgnc": "HGNC:21197",
        "name": "fatty acid 2-hydroxylase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fa2h"
      },
      {
        "slug": "iars2",
        "symbol": "IARS2",
        "hgnc": "HGNC:29685",
        "name": "isoleucyl-tRNA synthetase 2, mitochondrial",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/iars2"
      },
      {
        "slug": "kif5a",
        "symbol": "KIF5A",
        "hgnc": "HGNC:6323",
        "name": "kinesin family member 5A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif5a"
      },
      {
        "slug": "l1cam",
        "symbol": "L1CAM",
        "hgnc": "HGNC:6470",
        "name": "L1 cell adhesion molecule",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/l1cam"
      },
      {
        "slug": "lmnb1",
        "symbol": "LMNB1",
        "hgnc": "HGNC:6637",
        "name": "lamin B1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmnb1"
      },
      {
        "slug": "morc2",
        "symbol": "MORC2",
        "hgnc": "HGNC:23573",
        "name": "MORC family CW-type zinc finger 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/morc2"
      },
      {
        "slug": "pank2",
        "symbol": "PANK2",
        "hgnc": "HGNC:15894",
        "name": "pantothenate kinase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pank2"
      },
      {
        "slug": "polr3a",
        "symbol": "POLR3A",
        "hgnc": "HGNC:30074",
        "name": "RNA polymerase III subunit A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr3a"
      },
      {
        "slug": "aspa",
        "symbol": "ASPA",
        "hgnc": "HGNC:756",
        "name": "aspartoacylase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aspa"
      },
      {
        "slug": "atp13a2",
        "symbol": "ATP13A2",
        "hgnc": "HGNC:30213",
        "name": "ATPase cation transporting 13A2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp13a2"
      },
      {
        "slug": "chmp2b",
        "symbol": "CHMP2B",
        "hgnc": "HGNC:24537",
        "name": "charged multivesicular body protein 2B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chmp2b"
      },
      {
        "slug": "grn",
        "symbol": "GRN",
        "hgnc": "HGNC:4601",
        "name": "granulin precursor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grn"
      },
      {
        "slug": "hnrnpa1",
        "symbol": "HNRNPA1",
        "hgnc": "HGNC:5031",
        "name": "heterogeneous nuclear ribonucleoprotein A1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hnrnpa1"
      },
      {
        "slug": "hnrnpa2b1",
        "symbol": "HNRNPA2B1",
        "hgnc": "HGNC:5033",
        "name": "heterogeneous nuclear ribonucleoprotein A2/B1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hnrnpa2b1"
      },
      {
        "slug": "mapt",
        "symbol": "MAPT",
        "hgnc": "HGNC:6893",
        "name": "microtubule associated protein tau",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mapt"
      },
      {
        "slug": "mttp",
        "symbol": "MTTP",
        "hgnc": "HGNC:7467",
        "name": "microsomal triglyceride transfer protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mttp"
      },
      {
        "slug": "psen1",
        "symbol": "PSEN1",
        "hgnc": "HGNC:9508",
        "name": "presenilin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/psen1"
      },
      {
        "slug": "selenoi",
        "symbol": "SELENOI",
        "hgnc": "HGNC:29361",
        "name": "selenoprotein I",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/selenoi"
      },
      {
        "slug": "sqstm1",
        "symbol": "SQSTM1",
        "hgnc": "HGNC:11280",
        "name": "sequestosome 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sqstm1"
      },
      {
        "slug": "tmem106b",
        "symbol": "TMEM106B",
        "hgnc": "HGNC:22407",
        "name": "transmembrane protein 106B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem106b"
      },
      {
        "slug": "trem2",
        "symbol": "TREM2",
        "hgnc": "HGNC:17761",
        "name": "triggering receptor expressed on myeloid cells 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trem2"
      },
      {
        "slug": "vcp",
        "symbol": "VCP",
        "hgnc": "HGNC:12666",
        "name": "valosin containing protein",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/vcp"
      },
      {
        "slug": "ctsk",
        "symbol": "CTSK",
        "hgnc": "HGNC:2536",
        "name": "cathepsin K",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctsk"
      },
      {
        "slug": "chchd10",
        "symbol": "CHCHD10",
        "hgnc": "HGNC:15559",
        "name": "coiled-coil-helix-coiled-coil-helix domain containing 10",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chchd10"
      },
      {
        "slug": "fig4",
        "symbol": "FIG4",
        "hgnc": "HGNC:16873",
        "name": "FIG4 phosphoinositide 5-phosphatase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fig4"
      },
      {
        "slug": "hexb",
        "symbol": "HEXB",
        "hgnc": "HGNC:4879",
        "name": "hexosaminidase subunit beta",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hexb"
      },
      {
        "slug": "sacs",
        "symbol": "SACS",
        "hgnc": "HGNC:10519",
        "name": "sacsin molecular chaperone",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sacs"
      },
      {
        "slug": "sptbn2",
        "symbol": "SPTBN2",
        "hgnc": "HGNC:11276",
        "name": "spectrin beta, non-erythrocytic 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptbn2"
      }
    ]
  }
}