{
  "url": "https://dantelabs.com/traits/peripheral-demyelination",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "peripheral-demyelination",
    "id": "HP:0011096",
    "name": "Peripheral demyelination",
    "definition": "A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.",
    "synonyms": [
      "Demyelination"
    ],
    "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-peripheral-myelination",
        "name": "Abnormal peripheral myelination",
        "url": "https://dantelabs.com/traits/abnormal-peripheral-myelination"
      }
    ],
    "narrower": [
      {
        "slug": "segmental-peripheral-demyelination-remyelination",
        "name": "Segmental peripheral demyelination/remyelination",
        "genes": 22,
        "url": "https://dantelabs.com/traits/segmental-peripheral-demyelination-remyelination"
      },
      {
        "slug": "segmental-peripheral-demyelination",
        "name": "Segmental peripheral demyelination",
        "genes": 4,
        "url": "https://dantelabs.com/traits/segmental-peripheral-demyelination"
      },
      {
        "slug": "symmetric-peripheral-demyelination",
        "name": "Symmetric peripheral demyelination",
        "genes": 0,
        "url": "https://dantelabs.com/traits/symmetric-peripheral-demyelination"
      }
    ],
    "genes": [
      {
        "slug": "dnm1l",
        "symbol": "DNM1L",
        "hgnc": "HGNC:2973",
        "name": "dynamin 1L",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnm1l"
      },
      {
        "slug": "egr2",
        "symbol": "EGR2",
        "hgnc": "HGNC:3239",
        "name": "early growth response 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/egr2"
      },
      {
        "slug": "gdap1",
        "symbol": "GDAP1",
        "hgnc": "HGNC:15968",
        "name": "ganglioside induced differentiation associated protein 1",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/gdap1"
      },
      {
        "slug": "gnb4",
        "symbol": "GNB4",
        "hgnc": "HGNC:20731",
        "name": "G protein subunit beta 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnb4"
      },
      {
        "slug": "mpz",
        "symbol": "MPZ",
        "hgnc": "HGNC:7225",
        "name": "myelin protein zero",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/mpz"
      },
      {
        "slug": "pmp2",
        "symbol": "PMP2",
        "hgnc": "HGNC:9117",
        "name": "peripheral myelin protein 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pmp2"
      },
      {
        "slug": "pmp22",
        "symbol": "PMP22",
        "hgnc": "HGNC:9118",
        "name": "peripheral myelin protein 22",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pmp22"
      },
      {
        "slug": "prx",
        "symbol": "PRX",
        "hgnc": "HGNC:13797",
        "name": "periaxin",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/prx"
      },
      {
        "slug": "psap",
        "symbol": "PSAP",
        "hgnc": "HGNC:9498",
        "name": "prosaposin",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/psap"
      },
      {
        "slug": "hk1",
        "symbol": "HK1",
        "hgnc": "HGNC:4922",
        "name": "hexokinase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hk1"
      },
      {
        "slug": "plp1",
        "symbol": "PLP1",
        "hgnc": "HGNC:9086",
        "name": "proteolipid protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plp1"
      },
      {
        "slug": "kif1c",
        "symbol": "KIF1C",
        "hgnc": "HGNC:6317",
        "name": "kinesin family member 1C",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif1c"
      },
      {
        "slug": "fa2h",
        "symbol": "FA2H",
        "hgnc": "HGNC:21197",
        "name": "fatty acid 2-hydroxylase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fa2h"
      },
      {
        "slug": "galc",
        "symbol": "GALC",
        "hgnc": "HGNC:4115",
        "name": "galactosylceramidase",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/galc"
      },
      {
        "slug": "mmachc",
        "symbol": "MMACHC",
        "hgnc": "HGNC:24525",
        "name": "metabolism of cobalamin associated C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmachc"
      },
      {
        "slug": "nfu1",
        "symbol": "NFU1",
        "hgnc": "HGNC:16287",
        "name": "NFU1 iron-sulfur cluster scaffold",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nfu1"
      },
      {
        "slug": "pex16",
        "symbol": "PEX16",
        "hgnc": "HGNC:8857",
        "name": "peroxisomal biogenesis factor 16",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex16"
      },
      {
        "slug": "sptbn1",
        "symbol": "SPTBN1",
        "hgnc": "HGNC:11275",
        "name": "spectrin beta, non-erythrocytic 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptbn1"
      },
      {
        "slug": "abca1",
        "symbol": "ABCA1",
        "hgnc": "HGNC:29",
        "name": "ATP binding cassette subfamily A member 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abca1"
      },
      {
        "slug": "arhgef10",
        "symbol": "ARHGEF10",
        "hgnc": "HGNC:14103",
        "name": "Rho guanine nucleotide exchange factor 10",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arhgef10"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "hgnc": "HGNC:713",
        "name": "arylsulfatase A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arsa"
      },
      {
        "slug": "coq7",
        "symbol": "COQ7",
        "hgnc": "HGNC:2244",
        "name": "coenzyme Q7, hydroxylase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/coq7"
      },
      {
        "slug": "ctdp1",
        "symbol": "CTDP1",
        "hgnc": "HGNC:2498",
        "name": "CTD phosphatase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctdp1"
      },
      {
        "slug": "flvcr1",
        "symbol": "FLVCR1",
        "hgnc": "HGNC:24682",
        "name": "FLVCR choline and heme transporter 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flvcr1"
      },
      {
        "slug": "lrpprc",
        "symbol": "LRPPRC",
        "hgnc": "HGNC:15714",
        "name": "leucine rich pentatricopeptide repeat containing",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrpprc"
      },
      {
        "slug": "mat1a",
        "symbol": "MAT1A",
        "hgnc": "HGNC:6903",
        "name": "methionine adenosyltransferase 1A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mat1a"
      },
      {
        "slug": "mocs1",
        "symbol": "MOCS1",
        "hgnc": "HGNC:7190",
        "name": "molybdenum cofactor synthesis 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mocs1"
      },
      {
        "slug": "mocs2",
        "symbol": "MOCS2",
        "hgnc": "HGNC:7193",
        "name": "molybdenum cofactor synthesis 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mocs2"
      },
      {
        "slug": "mttp",
        "symbol": "MTTP",
        "hgnc": "HGNC:7467",
        "name": "microsomal triglyceride transfer protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mttp"
      },
      {
        "slug": "sox10",
        "symbol": "SOX10",
        "hgnc": "HGNC:11190",
        "name": "SRY-box transcription factor 10",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox10"
      },
      {
        "slug": "sumf1",
        "symbol": "SUMF1",
        "hgnc": "HGNC:20376",
        "name": "sulfatase modifying factor 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sumf1"
      },
      {
        "slug": "surf1",
        "symbol": "SURF1",
        "hgnc": "HGNC:11474",
        "name": "SURF1 cytochrome c oxidase assembly factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/surf1"
      },
      {
        "slug": "trem2",
        "symbol": "TREM2",
        "hgnc": "HGNC:17761",
        "name": "triggering receptor expressed on myeloid cells 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trem2"
      },
      {
        "slug": "tyrobp",
        "symbol": "TYROBP",
        "hgnc": "HGNC:12449",
        "name": "transmembrane immune signaling adaptor TYROBP",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tyrobp"
      },
      {
        "slug": "ubtf",
        "symbol": "UBTF",
        "hgnc": "HGNC:12511",
        "name": "upstream binding transcription factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ubtf"
      }
    ]
  }
}