{
  "url": "https://dantelabs.com/traits/upper-limb-amyotrophy",
  "trait": {
    "bundleId": "2026.10.18-8b139e39",
    "release": "2026-09-01",
    "slug": "upper-limb-amyotrophy",
    "id": "HP:0009129",
    "name": "Upper limb amyotrophy",
    "definition": "Muscular atrophy involving the muscles of the upper limbs.",
    "synonyms": [
      "Amyotrophy involving the upper limbs"
    ],
    "systems": [
      {
        "slug": "abnormality-of-limbs",
        "name": "Abnormality of limbs",
        "url": "https://dantelabs.com/traits/abnormality-of-limbs"
      },
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormality-of-the-musculature-of-the-upper-limbs",
        "name": "Abnormal upper limb muscles",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculature-of-the-upper-limbs"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      }
    ],
    "narrower": [
      {
        "slug": "distal-upper-limb-amyotrophy",
        "name": "Distal upper limb amyotrophy",
        "genes": 28,
        "url": "https://dantelabs.com/traits/distal-upper-limb-amyotrophy"
      }
    ],
    "genes": [
      {
        "slug": "hmgcr",
        "symbol": "HMGCR",
        "hgnc": "HGNC:5006",
        "name": "3-hydroxy-3-methylglutaryl-CoA reductase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hmgcr"
      },
      {
        "slug": "hspb1",
        "symbol": "HSPB1",
        "hgnc": "HGNC:5246",
        "name": "heat shock protein family B (small) member 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hspb1"
      },
      {
        "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": "mfn2",
        "symbol": "MFN2",
        "hgnc": "HGNC:16877",
        "name": "mitofusin 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mfn2"
      },
      {
        "slug": "sptan1",
        "symbol": "SPTAN1",
        "hgnc": "HGNC:11273",
        "name": "spectrin alpha, non-erythrocytic 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptan1"
      },
      {
        "slug": "kat6a",
        "symbol": "KAT6A",
        "hgnc": "HGNC:13013",
        "name": "lysine acetyltransferase 6A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kat6a"
      },
      {
        "slug": "septin9",
        "symbol": "SEPTIN9",
        "hgnc": "HGNC:7323",
        "name": "septin 9",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/septin9"
      },
      {
        "slug": "adss1",
        "symbol": "ADSS1",
        "hgnc": "HGNC:20093",
        "name": "adenylosuccinate synthase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adss1"
      },
      {
        "slug": "hk1",
        "symbol": "HK1",
        "hgnc": "HGNC:4922",
        "name": "hexokinase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hk1"
      },
      {
        "slug": "ky",
        "symbol": "KY",
        "hgnc": "HGNC:26576",
        "name": "kyphoscoliosis peptidase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ky"
      },
      {
        "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": "nefh",
        "symbol": "NEFH",
        "hgnc": "HGNC:7737",
        "name": "neurofilament heavy chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nefh"
      },
      {
        "slug": "pax3",
        "symbol": "PAX3",
        "hgnc": "HGNC:8617",
        "name": "paired box 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pax3"
      },
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "hgnc": "HGNC:27337",
        "name": "anoctamin 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ano5"
      },
      {
        "slug": "cyp7b1",
        "symbol": "CYP7B1",
        "hgnc": "HGNC:2652",
        "name": "cytochrome P450 family 7 subfamily B member 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cyp7b1"
      },
      {
        "slug": "kif5a",
        "symbol": "KIF5A",
        "hgnc": "HGNC:6323",
        "name": "kinesin family member 5A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif5a"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "ndrg1",
        "symbol": "NDRG1",
        "hgnc": "HGNC:7679",
        "name": "N-myc downstream regulated 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndrg1"
      },
      {
        "slug": "gars1",
        "symbol": "GARS1",
        "hgnc": "HGNC:4162",
        "name": "glycyl-tRNA synthetase 1",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gars1"
      }
    ]
  }
}