{
  "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "somatic-sensory-dysfunction",
    "id": "HP:0003474",
    "name": "Somatic sensory dysfunction",
    "definition": "An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.",
    "synonyms": [
      "Sensory impairment"
    ],
    "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-nervous-system-physiology",
        "name": "Abnormal nervous system physiology",
        "url": "https://dantelabs.com/traits/abnormal-nervous-system-physiology"
      }
    ],
    "narrower": [
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "genes": 123,
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "impaired-proprioception",
        "name": "Impaired proprioception",
        "genes": 25,
        "url": "https://dantelabs.com/traits/impaired-proprioception"
      },
      {
        "slug": "dissociated-sensory-loss",
        "name": "Dissociated sensory loss",
        "genes": 4,
        "url": "https://dantelabs.com/traits/dissociated-sensory-loss"
      },
      {
        "slug": "abnormal-exteroceptive-sensation",
        "name": "Abnormal exteroceptive sensation",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-exteroceptive-sensation"
      }
    ],
    "genes": [
      {
        "slug": "dhtkd1",
        "symbol": "DHTKD1",
        "hgnc": "HGNC:23537",
        "name": "dehydrogenase E1 and transketolase domain containing 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhtkd1"
      },
      {
        "slug": "plekhg5",
        "symbol": "PLEKHG5",
        "hgnc": "HGNC:29105",
        "name": "pleckstrin homology and RhoGEF domain containing G5",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plekhg5"
      },
      {
        "slug": "app",
        "symbol": "APP",
        "hgnc": "HGNC:620",
        "name": "amyloid beta precursor protein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/app"
      },
      {
        "slug": "hars1",
        "symbol": "HARS1",
        "hgnc": "HGNC:4816",
        "name": "histidyl-tRNA synthetase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hars1"
      },
      {
        "slug": "ifrd1",
        "symbol": "IFRD1",
        "hgnc": "HGNC:5456",
        "name": "interferon related developmental regulator 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ifrd1"
      },
      {
        "slug": "mfn2",
        "symbol": "MFN2",
        "hgnc": "HGNC:16877",
        "name": "mitofusin 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mfn2"
      },
      {
        "slug": "nefl",
        "symbol": "NEFL",
        "hgnc": "HGNC:7739",
        "name": "neurofilament light chain",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nefl"
      },
      {
        "slug": "tfg",
        "symbol": "TFG",
        "hgnc": "HGNC:11758",
        "name": "trafficking from ER to golgi regulator",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tfg"
      },
      {
        "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": "alms1",
        "symbol": "ALMS1",
        "hgnc": "HGNC:428",
        "name": "ALMS1 centrosome and basal body associated protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alms1"
      },
      {
        "slug": "atxn7",
        "symbol": "ATXN7",
        "hgnc": "HGNC:10560",
        "name": "ataxin 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atxn7"
      },
      {
        "slug": "csf1r",
        "symbol": "CSF1R",
        "hgnc": "HGNC:2433",
        "name": "colony stimulating factor 1 receptor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/csf1r"
      },
      {
        "slug": "dab1",
        "symbol": "DAB1",
        "hgnc": "HGNC:2661",
        "name": "DAB adaptor protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dab1"
      },
      {
        "slug": "dkk1",
        "symbol": "DKK1",
        "hgnc": "HGNC:2891",
        "name": "dickkopf Wnt signaling pathway inhibitor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dkk1"
      },
      {
        "slug": "elovl5",
        "symbol": "ELOVL5",
        "hgnc": "HGNC:21308",
        "name": "ELOVL fatty acid elongase 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/elovl5"
      },
      {
        "slug": "gjc2",
        "symbol": "GJC2",
        "hgnc": "HGNC:17494",
        "name": "gap junction protein gamma 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gjc2"
      },
      {
        "slug": "kif1a",
        "symbol": "KIF1A",
        "hgnc": "HGNC:888",
        "name": "kinesin family member 1A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif1a"
      },
      {
        "slug": "mapt",
        "symbol": "MAPT",
        "hgnc": "HGNC:6893",
        "name": "microtubule associated protein tau",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mapt"
      },
      {
        "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": "mpz",
        "symbol": "MPZ",
        "hgnc": "HGNC:7225",
        "name": "myelin protein zero",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mpz"
      },
      {
        "slug": "msto1",
        "symbol": "MSTO1",
        "hgnc": "HGNC:29678",
        "name": "misato mitochondrial distribution and morphology regulator 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/msto1"
      },
      {
        "slug": "opa3",
        "symbol": "OPA3",
        "hgnc": "HGNC:8142",
        "name": "outer mitochondrial membrane lipid metabolism regulator OPA3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/opa3"
      },
      {
        "slug": "pik3r5",
        "symbol": "PIK3R5",
        "hgnc": "HGNC:30035",
        "name": "phosphoinositide-3-kinase regulatory subunit 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3r5"
      },
      {
        "slug": "pmp22",
        "symbol": "PMP22",
        "hgnc": "HGNC:9118",
        "name": "peripheral myelin protein 22",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pmp22"
      },
      {
        "slug": "scyl1",
        "symbol": "SCYL1",
        "hgnc": "HGNC:14372",
        "name": "SCY1 like pseudokinase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scyl1"
      },
      {
        "slug": "setx",
        "symbol": "SETX",
        "hgnc": "HGNC:445",
        "name": "senataxin",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/setx"
      },
      {
        "slug": "spg7",
        "symbol": "SPG7",
        "hgnc": "HGNC:11237",
        "name": "SPG7 matrix AAA peptidase subunit, paraplegin",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/spg7"
      },
      {
        "slug": "ext1",
        "symbol": "EXT1",
        "hgnc": "HGNC:3512",
        "name": "exostosin glycosyltransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ext1"
      },
      {
        "slug": "ext2",
        "symbol": "EXT2",
        "hgnc": "HGNC:3513",
        "name": "exostosin glycosyltransferase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ext2"
      },
      {
        "slug": "fli1",
        "symbol": "FLI1",
        "hgnc": "HGNC:3749",
        "name": "Fli-1 proto-oncogene, ETS transcription factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fli1"
      },
      {
        "slug": "galc",
        "symbol": "GALC",
        "hgnc": "HGNC:4115",
        "name": "galactosylceramidase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/galc"
      },
      {
        "slug": "gmppa",
        "symbol": "GMPPA",
        "hgnc": "HGNC:22923",
        "name": "GDP-mannose pyrophosphorylase A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gmppa"
      },
      {
        "slug": "hmbs",
        "symbol": "HMBS",
        "hgnc": "HGNC:4982",
        "name": "hydroxymethylbilane synthase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hmbs"
      },
      {
        "slug": "htra1",
        "symbol": "HTRA1",
        "hgnc": "HGNC:9476",
        "name": "HtrA serine peptidase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/htra1"
      },
      {
        "slug": "lyst",
        "symbol": "LYST",
        "hgnc": "HGNC:1968",
        "name": "lysosomal trafficking regulator",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lyst"
      },
      {
        "slug": "ndrg1",
        "symbol": "NDRG1",
        "hgnc": "HGNC:7679",
        "name": "N-myc downstream regulated 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndrg1"
      },
      {
        "slug": "nf2",
        "symbol": "NF2",
        "hgnc": "HGNC:7773",
        "name": "NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nf2"
      },
      {
        "slug": "ntrk1",
        "symbol": "NTRK1",
        "hgnc": "HGNC:8031",
        "name": "neurotrophic receptor tyrosine kinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ntrk1"
      },
      {
        "slug": "pnkp",
        "symbol": "PNKP",
        "hgnc": "HGNC:9154",
        "name": "polynucleotide kinase 3'-phosphatase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pnkp"
      },
      {
        "slug": "ppox",
        "symbol": "PPOX",
        "hgnc": "HGNC:9280",
        "name": "protoporphyrinogen oxidase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppox"
      },
      {
        "slug": "prkcg",
        "symbol": "PRKCG",
        "hgnc": "HGNC:9402",
        "name": "protein kinase C gamma",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkcg"
      },
      {
        "slug": "rasa1",
        "symbol": "RASA1",
        "hgnc": "HGNC:9871",
        "name": "RAS p21 protein activator 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rasa1"
      },
      {
        "slug": "cyp27a1",
        "symbol": "CYP27A1",
        "hgnc": "HGNC:2605",
        "name": "cytochrome P450 family 27 subfamily A member 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp27a1"
      },
      {
        "slug": "adss1",
        "symbol": "ADSS1",
        "hgnc": "HGNC:20093",
        "name": "adenylosuccinate synthase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adss1"
      },
      {
        "slug": "cblif",
        "symbol": "CBLIF",
        "hgnc": "HGNC:4268",
        "name": "cobalamin binding intrinsic factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cblif"
      },
      {
        "slug": "cubn",
        "symbol": "CUBN",
        "hgnc": "HGNC:2548",
        "name": "cubilin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cubn"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "hgnc": "HGNC:2961",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dync1h1"
      },
      {
        "slug": "dysf",
        "symbol": "DYSF",
        "hgnc": "HGNC:3097",
        "name": "dysferlin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dysf"
      },
      {
        "slug": "eef2",
        "symbol": "EEF2",
        "hgnc": "HGNC:3214",
        "name": "eukaryotic translation elongation factor 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eef2"
      },
      {
        "slug": "flnc",
        "symbol": "FLNC",
        "hgnc": "HGNC:3756",
        "name": "filamin C",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flnc"
      },
      {
        "slug": "nefh",
        "symbol": "NEFH",
        "hgnc": "HGNC:7737",
        "name": "neurofilament heavy chain",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nefh"
      },
      {
        "slug": "notch2nlc",
        "symbol": "NOTCH2NLC",
        "hgnc": "HGNC:53924",
        "name": "notch 2 N-terminal like C",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch2nlc"
      },
      {
        "slug": "pex7",
        "symbol": "PEX7",
        "hgnc": "HGNC:8860",
        "name": "peroxisomal biogenesis factor 7",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex7"
      },
      {
        "slug": "pgm3",
        "symbol": "PGM3",
        "hgnc": "HGNC:8907",
        "name": "phosphoglucomutase 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pgm3"
      },
      {
        "slug": "phyh",
        "symbol": "PHYH",
        "hgnc": "HGNC:8940",
        "name": "phytanoyl-CoA 2-hydroxylase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phyh"
      },
      {
        "slug": "rab7a",
        "symbol": "RAB7A",
        "hgnc": "HGNC:9788",
        "name": "RAB7A, member RAS oncogene family",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rab7a"
      }
    ]
  }
}