{
  "url": "https://dantelabs.com/traits/cns-demyelination",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "cns-demyelination",
    "id": "HP:0007305",
    "name": "CNS demyelination",
    "definition": "A loss of myelin from nerve fibers in the central nervous system.",
    "synonyms": [
      "Demyelination in central white matter"
    ],
    "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-cns-myelination",
        "name": "Abnormal CNS myelination",
        "url": "https://dantelabs.com/traits/abnormal-cns-myelination"
      }
    ],
    "narrower": [
      {
        "slug": "severe-demyelination-of-the-white-matter",
        "name": "Severe demyelination of the white matter",
        "genes": 7,
        "url": "https://dantelabs.com/traits/severe-demyelination-of-the-white-matter"
      },
      {
        "slug": "diffuse-demyelination-of-the-cerebral-white-matter",
        "name": "Diffuse demyelination of the cerebral white matter",
        "genes": 4,
        "url": "https://dantelabs.com/traits/diffuse-demyelination-of-the-cerebral-white-matter"
      },
      {
        "slug": "patchy-demyelination-of-subcortical-white-matter",
        "name": "Patchy demyelination of subcortical white matter",
        "genes": 3,
        "url": "https://dantelabs.com/traits/patchy-demyelination-of-subcortical-white-matter"
      },
      {
        "slug": "spinal-cord-dorsal-column-hypomyelination",
        "name": "Spinal cord dorsal column hypomyelination",
        "genes": 2,
        "url": "https://dantelabs.com/traits/spinal-cord-dorsal-column-hypomyelination"
      }
    ],
    "genes": [
      {
        "slug": "afg3l2",
        "symbol": "AFG3L2",
        "hgnc": "HGNC:315",
        "name": "AFG3 like matrix AAA peptidase subunit 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/afg3l2"
      },
      {
        "slug": "ndufaf4",
        "symbol": "NDUFAF4",
        "hgnc": "HGNC:21034",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufaf4"
      },
      {
        "slug": "ppfibp1",
        "symbol": "PPFIBP1",
        "hgnc": "HGNC:9249",
        "name": "PPFIB scaffold protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppfibp1"
      },
      {
        "slug": "prf1",
        "symbol": "PRF1",
        "hgnc": "HGNC:9360",
        "name": "perforin 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prf1"
      },
      {
        "slug": "ptbp1",
        "symbol": "PTBP1",
        "hgnc": "HGNC:9583",
        "name": "polypyrimidine tract binding protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptbp1"
      },
      {
        "slug": "tefm",
        "symbol": "TEFM",
        "hgnc": "HGNC:26223",
        "name": "transcription elongation factor, mitochondrial",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tefm"
      },
      {
        "slug": "tnr",
        "symbol": "TNR",
        "hgnc": "HGNC:11953",
        "name": "tenascin R",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnr"
      },
      {
        "slug": "trex1",
        "symbol": "TREX1",
        "hgnc": "HGNC:12269",
        "name": "three prime repair exonuclease 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trex1"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "hgnc": "HGNC:61",
        "name": "ATP binding cassette subfamily D member 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcd1"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "hgnc": "HGNC:403",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/aldh3a2"
      },
      {
        "slug": "ercc6",
        "symbol": "ERCC6",
        "hgnc": "HGNC:3438",
        "name": "ERCC excision repair 6, chromatin remodeling factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc6"
      },
      {
        "slug": "galc",
        "symbol": "GALC",
        "hgnc": "HGNC:4115",
        "name": "galactosylceramidase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/galc"
      },
      {
        "slug": "gls",
        "symbol": "GLS",
        "hgnc": "HGNC:4331",
        "name": "glutaminase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gls"
      },
      {
        "slug": "mrpl39",
        "symbol": "MRPL39",
        "hgnc": "HGNC:14027",
        "name": "mitochondrial ribosomal protein L39",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mrpl39"
      },
      {
        "slug": "cyp27a1",
        "symbol": "CYP27A1",
        "hgnc": "HGNC:2605",
        "name": "cytochrome P450 family 27 subfamily A member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp27a1"
      },
      {
        "slug": "insr",
        "symbol": "INSR",
        "hgnc": "HGNC:6091",
        "name": "insulin receptor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/insr"
      },
      {
        "slug": "jkamp",
        "symbol": "JKAMP",
        "hgnc": "HGNC:20184",
        "name": "JNK1/MAPK8 associated membrane protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jkamp"
      },
      {
        "slug": "rere",
        "symbol": "RERE",
        "hgnc": "HGNC:9965",
        "name": "arginine-glutamic acid dipeptide repeats",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rere"
      },
      {
        "slug": "acox1",
        "symbol": "ACOX1",
        "hgnc": "HGNC:119",
        "name": "acyl-CoA oxidase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acox1"
      },
      {
        "slug": "aspa",
        "symbol": "ASPA",
        "hgnc": "HGNC:756",
        "name": "aspartoacylase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aspa"
      },
      {
        "slug": "csf1r",
        "symbol": "CSF1R",
        "hgnc": "HGNC:2433",
        "name": "colony stimulating factor 1 receptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/csf1r"
      },
      {
        "slug": "eif2b1",
        "symbol": "EIF2B1",
        "hgnc": "HGNC:3257",
        "name": "eukaryotic translation initiation factor 2B subunit alpha",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eif2b1"
      },
      {
        "slug": "hla-dqb1",
        "symbol": "HLA-DQB1",
        "hgnc": "HGNC:4944",
        "name": "major histocompatibility complex, class II, DQ beta 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-dqb1"
      },
      {
        "slug": "hla-drb1",
        "symbol": "HLA-DRB1",
        "hgnc": "HGNC:4948",
        "name": "major histocompatibility complex, class II, DR beta 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-drb1"
      },
      {
        "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": "mttp",
        "symbol": "MTTP",
        "hgnc": "HGNC:7467",
        "name": "microsomal triglyceride transfer protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mttp"
      },
      {
        "slug": "pdyn",
        "symbol": "PDYN",
        "hgnc": "HGNC:8820",
        "name": "prodynorphin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdyn"
      },
      {
        "slug": "pex19",
        "symbol": "PEX19",
        "hgnc": "HGNC:9713",
        "name": "peroxisomal biogenesis factor 19",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex19"
      },
      {
        "slug": "psap",
        "symbol": "PSAP",
        "hgnc": "HGNC:9498",
        "name": "prosaposin",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/psap"
      },
      {
        "slug": "sumf1",
        "symbol": "SUMF1",
        "hgnc": "HGNC:20376",
        "name": "sulfatase modifying factor 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sumf1"
      },
      {
        "slug": "trem2",
        "symbol": "TREM2",
        "hgnc": "HGNC:17761",
        "name": "triggering receptor expressed on myeloid cells 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trem2"
      }
    ]
  }
}