{
  "url": "https://dantelabs.com/traits/proximal-amyotrophy",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "proximal-amyotrophy",
    "id": "HP:0007126",
    "name": "Wasting of muscles near the body",
    "label": "Proximal amyotrophy",
    "definition": "Amyotrophy (muscular atrophy) affecting the proximal musculature.",
    "synonyms": [
      "Muscle atrophy, proximal",
      "Proximal muscle atrophy",
      "Proximal muscle wasting",
      "Symmetric proximal muscular atrophy",
      "Symmetrical, proximal limb muscle atrophy"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      }
    ],
    "broader": [
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      }
    ],
    "narrower": [
      {
        "slug": "proximal-upper-limb-amyotrophy",
        "name": "Proximal upper limb amyotrophy",
        "genes": 15,
        "url": "https://dantelabs.com/traits/proximal-upper-limb-amyotrophy"
      },
      {
        "slug": "proximal-lower-limb-amyotrophy",
        "name": "Wasting of thigh muscle",
        "genes": 15,
        "url": "https://dantelabs.com/traits/proximal-lower-limb-amyotrophy"
      }
    ],
    "genes": [
      {
        "slug": "dnm2",
        "symbol": "DNM2",
        "hgnc": "HGNC:2974",
        "name": "dynamin 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnm2"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "hgnc": "HGNC:17997",
        "name": "fukutin related protein",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fkrp"
      },
      {
        "slug": "mtmr14",
        "symbol": "MTMR14",
        "hgnc": "HGNC:26190",
        "name": "myotubularin related protein 14",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mtmr14"
      },
      {
        "slug": "sgcd",
        "symbol": "SGCD",
        "hgnc": "HGNC:10807",
        "name": "sarcoglycan delta",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sgcd"
      },
      {
        "slug": "slc12a6",
        "symbol": "SLC12A6",
        "hgnc": "HGNC:10914",
        "name": "solute carrier family 12 member 6",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc12a6"
      },
      {
        "slug": "tmem43",
        "symbol": "TMEM43",
        "hgnc": "HGNC:28472",
        "name": "transmembrane protein 43",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem43"
      },
      {
        "slug": "tnnt1",
        "symbol": "TNNT1",
        "hgnc": "HGNC:11948",
        "name": "troponin T1, slow skeletal type",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tnnt1"
      },
      {
        "slug": "trim32",
        "symbol": "TRIM32",
        "hgnc": "HGNC:16380",
        "name": "tripartite motif containing 32",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trim32"
      },
      {
        "slug": "mt-te",
        "symbol": "MT-TE",
        "hgnc": "HGNC:7479",
        "name": "mitochondrially encoded tRNA-Glu (GAA/G)",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-te"
      },
      {
        "slug": "armc5",
        "symbol": "ARMC5",
        "hgnc": "HGNC:25781",
        "name": "armadillo repeat containing 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/armc5"
      },
      {
        "slug": "atrx",
        "symbol": "ATRX",
        "hgnc": "HGNC:886",
        "name": "ATRX chromatin remodeler",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atrx"
      },
      {
        "slug": "braf",
        "symbol": "BRAF",
        "hgnc": "HGNC:1097",
        "name": "B-Raf proto-oncogene, serine/threonine kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/braf"
      },
      {
        "slug": "cdh23",
        "symbol": "CDH23",
        "hgnc": "HGNC:13733",
        "name": "cadherin related 23",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdh23"
      },
      {
        "slug": "crppa",
        "symbol": "CRPPA",
        "hgnc": "HGNC:37276",
        "name": "CDP-L-ribitol pyrophosphorylase A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crppa"
      },
      {
        "slug": "dysf",
        "symbol": "DYSF",
        "hgnc": "HGNC:3097",
        "name": "dysferlin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dysf"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "hgnc": "HGNC:3622",
        "name": "fukutin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fktn"
      },
      {
        "slug": "gnas",
        "symbol": "GNAS",
        "hgnc": "HGNC:4392",
        "name": "GNAS complex locus",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnas"
      },
      {
        "slug": "kdm1a",
        "symbol": "KDM1A",
        "hgnc": "HGNC:29079",
        "name": "lysine demethylase 1A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm1a"
      },
      {
        "slug": "myh7",
        "symbol": "MYH7",
        "hgnc": "HGNC:7577",
        "name": "myosin heavy chain 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myh7"
      },
      {
        "slug": "nr3c1",
        "symbol": "NR3C1",
        "hgnc": "HGNC:7978",
        "name": "nuclear receptor subfamily 3 group C member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nr3c1"
      },
      {
        "slug": "pex6",
        "symbol": "PEX6",
        "hgnc": "HGNC:8859",
        "name": "peroxisomal biogenesis factor 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex6"
      },
      {
        "slug": "pomt1",
        "symbol": "POMT1",
        "hgnc": "HGNC:9202",
        "name": "protein O-mannosyltransferase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt1"
      },
      {
        "slug": "pomt2",
        "symbol": "POMT2",
        "hgnc": "HGNC:19743",
        "name": "protein O-mannosyltransferase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt2"
      },
      {
        "slug": "tp53",
        "symbol": "TP53",
        "hgnc": "HGNC:11998",
        "name": "tumor protein p53",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tp53"
      },
      {
        "slug": "usp48",
        "symbol": "USP48",
        "hgnc": "HGNC:18533",
        "name": "ubiquitin specific peptidase 48",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/usp48"
      },
      {
        "slug": "usp8",
        "symbol": "USP8",
        "hgnc": "HGNC:12631",
        "name": "ubiquitin specific peptidase 8",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/usp8"
      },
      {
        "slug": "vapb",
        "symbol": "VAPB",
        "hgnc": "HGNC:12649",
        "name": "VAMP associated protein B and C",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/vapb"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "syt2",
        "symbol": "SYT2",
        "hgnc": "HGNC:11510",
        "name": "synaptotagmin 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syt2"
      },
      {
        "slug": "tnxb",
        "symbol": "TNXB",
        "hgnc": "HGNC:11976",
        "name": "tenascin XB",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnxb"
      },
      {
        "slug": "capn3",
        "symbol": "CAPN3",
        "hgnc": "HGNC:1480",
        "name": "calpain 3",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/capn3"
      },
      {
        "slug": "dok7",
        "symbol": "DOK7",
        "hgnc": "HGNC:26594",
        "name": "docking protein 7",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dok7"
      },
      {
        "slug": "fus",
        "symbol": "FUS",
        "hgnc": "HGNC:4010",
        "name": "FUS RNA binding protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fus"
      },
      {
        "slug": "gfpt1",
        "symbol": "GFPT1",
        "hgnc": "HGNC:4241",
        "name": "glutamine--fructose-6-phosphate transaminase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gfpt1"
      },
      {
        "slug": "inpp5k",
        "symbol": "INPP5K",
        "hgnc": "HGNC:33882",
        "name": "inositol polyphosphate-5-phosphatase K",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/inpp5k"
      },
      {
        "slug": "mgme1",
        "symbol": "MGME1",
        "hgnc": "HGNC:16205",
        "name": "mitochondrial genome maintenance exonuclease 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mgme1"
      },
      {
        "slug": "sgcb",
        "symbol": "SGCB",
        "hgnc": "HGNC:10806",
        "name": "sarcoglycan beta",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sgcb"
      },
      {
        "slug": "smn1",
        "symbol": "SMN1",
        "hgnc": "HGNC:11117",
        "name": "survival of motor neuron 1, telomeric",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/smn1"
      },
      {
        "slug": "stim1",
        "symbol": "STIM1",
        "hgnc": "HGNC:11386",
        "name": "stromal interaction molecule 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stim1"
      },
      {
        "slug": "syne1",
        "symbol": "SYNE1",
        "hgnc": "HGNC:17089",
        "name": "spectrin repeat containing nuclear envelope protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syne1"
      },
      {
        "slug": "syne2",
        "symbol": "SYNE2",
        "hgnc": "HGNC:17084",
        "name": "spectrin repeat containing nuclear envelope protein 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syne2"
      },
      {
        "slug": "tfg",
        "symbol": "TFG",
        "hgnc": "HGNC:11758",
        "name": "trafficking from ER to golgi regulator",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tfg"
      }
    ]
  }
}