{
  "url": "https://dantelabs.com/traits/generalized-amyotrophy",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "generalized-amyotrophy",
    "id": "HP:0003700",
    "name": "Diffuse skeletal muscle wasting",
    "label": "Generalized amyotrophy",
    "definition": "Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.",
    "synonyms": [
      "Generalized muscle degeneration",
      "Muscle atrophy, generalized",
      "Diffuse amyotrophy",
      "Diffuse muscle atrophy",
      "Diffuse muscle wasting",
      "Generalised amyotrophy",
      "Generalised muscle atrophy",
      "Generalised muscle degeneration",
      "Generalized muscle atrophy",
      "Muscle atrophy, diffuse",
      "Muscle atrophy, generalised",
      "Muscular atrophy, generalised",
      "Muscular atrophy, generalized"
    ],
    "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": "generalized-limb-muscle-atrophy",
        "name": "Generalized muscle wasting",
        "genes": 21,
        "url": "https://dantelabs.com/traits/generalized-limb-muscle-atrophy"
      }
    ],
    "genes": [
      {
        "slug": "acadsb",
        "symbol": "ACADSB",
        "hgnc": "HGNC:91",
        "name": "acyl-CoA dehydrogenase short/branched chain",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acadsb"
      },
      {
        "slug": "borcs8",
        "symbol": "BORCS8",
        "hgnc": "HGNC:37247",
        "name": "BLOC-1 related complex subunit 8",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/borcs8"
      },
      {
        "slug": "c2orf69",
        "symbol": "C2orf69",
        "hgnc": "HGNC:26799",
        "name": "chromosome 2 open reading frame 69",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c2orf69"
      },
      {
        "slug": "cnbp",
        "symbol": "CNBP",
        "hgnc": "HGNC:13164",
        "name": "CCHC-type zinc finger nucleic acid binding protein",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cnbp"
      },
      {
        "slug": "dalrd3",
        "symbol": "DALRD3",
        "hgnc": "HGNC:25536",
        "name": "DALR anticodon binding domain containing 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dalrd3"
      },
      {
        "slug": "fuca1",
        "symbol": "FUCA1",
        "hgnc": "HGNC:4006",
        "name": "alpha-L-fucosidase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fuca1"
      },
      {
        "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": "jph1",
        "symbol": "JPH1",
        "hgnc": "HGNC:14201",
        "name": "junctophilin 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jph1"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "mpv17",
        "symbol": "MPV17",
        "hgnc": "HGNC:7224",
        "name": "mitochondrial inner membrane protein MPV17",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mpv17"
      },
      {
        "slug": "nde1",
        "symbol": "NDE1",
        "hgnc": "HGNC:17619",
        "name": "nudE neurodevelopment protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nde1"
      },
      {
        "slug": "piga",
        "symbol": "PIGA",
        "hgnc": "HGNC:8957",
        "name": "phosphatidylinositol glycan anchor biosynthesis class A",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/piga"
      },
      {
        "slug": "polr3a",
        "symbol": "POLR3A",
        "hgnc": "HGNC:30074",
        "name": "RNA polymerase III subunit A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr3a"
      },
      {
        "slug": "scn4a",
        "symbol": "SCN4A",
        "hgnc": "HGNC:10591",
        "name": "sodium voltage-gated channel alpha subunit 4",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/scn4a"
      },
      {
        "slug": "sptlc1",
        "symbol": "SPTLC1",
        "hgnc": "HGNC:11277",
        "name": "serine palmitoyltransferase long chain base subunit 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptlc1"
      },
      {
        "slug": "vamp1",
        "symbol": "VAMP1",
        "hgnc": "HGNC:12642",
        "name": "vesicle associated membrane protein 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/vamp1"
      },
      {
        "slug": "vcp",
        "symbol": "VCP",
        "hgnc": "HGNC:12666",
        "name": "valosin containing protein",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/vcp"
      },
      {
        "slug": "wars2",
        "symbol": "WARS2",
        "hgnc": "HGNC:12730",
        "name": "tryptophanyl tRNA synthetase 2, mitochondrial",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/wars2"
      },
      {
        "slug": "mgme1",
        "symbol": "MGME1",
        "hgnc": "HGNC:16205",
        "name": "mitochondrial genome maintenance exonuclease 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mgme1"
      },
      {
        "slug": "naga",
        "symbol": "NAGA",
        "hgnc": "HGNC:7631",
        "name": "alpha-N-acetylgalactosaminidase",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/naga"
      },
      {
        "slug": "sptbn4",
        "symbol": "SPTBN4",
        "hgnc": "HGNC:14896",
        "name": "spectrin beta, non-erythrocytic 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptbn4"
      },
      {
        "slug": "adss1",
        "symbol": "ADSS1",
        "hgnc": "HGNC:20093",
        "name": "adenylosuccinate synthase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adss1"
      },
      {
        "slug": "bin1",
        "symbol": "BIN1",
        "hgnc": "HGNC:1052",
        "name": "bridging integrator 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/bin1"
      },
      {
        "slug": "chchd10",
        "symbol": "CHCHD10",
        "hgnc": "HGNC:15559",
        "name": "coiled-coil-helix-coiled-coil-helix domain containing 10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chchd10"
      },
      {
        "slug": "col12a1",
        "symbol": "COL12A1",
        "hgnc": "HGNC:2188",
        "name": "collagen type XII alpha 1 chain",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/col12a1"
      },
      {
        "slug": "col6a1",
        "symbol": "COL6A1",
        "hgnc": "HGNC:2211",
        "name": "collagen type VI alpha 1 chain",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/col6a1"
      },
      {
        "slug": "col6a2",
        "symbol": "COL6A2",
        "hgnc": "HGNC:2212",
        "name": "collagen type VI alpha 2 chain",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/col6a2"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "hgnc": "HGNC:2213",
        "name": "collagen type VI alpha 3 chain",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/col6a3"
      },
      {
        "slug": "dok7",
        "symbol": "DOK7",
        "hgnc": "HGNC:26594",
        "name": "docking protein 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dok7"
      },
      {
        "slug": "exosc9",
        "symbol": "EXOSC9",
        "hgnc": "HGNC:9137",
        "name": "exosome component 9",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/exosc9"
      },
      {
        "slug": "fus",
        "symbol": "FUS",
        "hgnc": "HGNC:4010",
        "name": "FUS RNA binding protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fus"
      },
      {
        "slug": "gldn",
        "symbol": "GLDN",
        "hgnc": "HGNC:29514",
        "name": "gliomedin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gldn"
      },
      {
        "slug": "kif21a",
        "symbol": "KIF21A",
        "hgnc": "HGNC:19349",
        "name": "kinesin family member 21A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif21a"
      },
      {
        "slug": "lmnb2",
        "symbol": "LMNB2",
        "hgnc": "HGNC:6638",
        "name": "lamin B2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmnb2"
      },
      {
        "slug": "magel2",
        "symbol": "MAGEL2",
        "hgnc": "HGNC:6814",
        "name": "MAGE family member L2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/magel2"
      },
      {
        "slug": "musk",
        "symbol": "MUSK",
        "hgnc": "HGNC:7525",
        "name": "muscle associated receptor tyrosine kinase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/musk"
      },
      {
        "slug": "myh7",
        "symbol": "MYH7",
        "hgnc": "HGNC:7577",
        "name": "myosin heavy chain 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myh7"
      },
      {
        "slug": "myod1",
        "symbol": "MYOD1",
        "hgnc": "HGNC:7611",
        "name": "myogenic differentiation 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myod1"
      },
      {
        "slug": "nup88",
        "symbol": "NUP88",
        "hgnc": "HGNC:8067",
        "name": "nucleoporin 88",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nup88"
      },
      {
        "slug": "ogdh",
        "symbol": "OGDH",
        "hgnc": "HGNC:8124",
        "name": "oxoglutarate dehydrogenase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ogdh"
      },
      {
        "slug": "pgap1",
        "symbol": "PGAP1",
        "hgnc": "HGNC:25712",
        "name": "post-GPI attachment to proteins inositol deacylase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pgap1"
      },
      {
        "slug": "rapsn",
        "symbol": "RAPSN",
        "hgnc": "HGNC:9863",
        "name": "receptor associated protein of the synapse",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rapsn"
      },
      {
        "slug": "ryr1",
        "symbol": "RYR1",
        "hgnc": "HGNC:10483",
        "name": "ryanodine receptor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ryr1"
      },
      {
        "slug": "selenon",
        "symbol": "SELENON",
        "hgnc": "HGNC:15999",
        "name": "selenoprotein N",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/selenon"
      },
      {
        "slug": "slc18a3",
        "symbol": "SLC18A3",
        "hgnc": "HGNC:10936",
        "name": "solute carrier family 18 member A3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc18a3"
      },
      {
        "slug": "speg",
        "symbol": "SPEG",
        "hgnc": "HGNC:16901",
        "name": "striated muscle enriched protein kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/speg"
      },
      {
        "slug": "sqstm1",
        "symbol": "SQSTM1",
        "hgnc": "HGNC:11280",
        "name": "sequestosome 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sqstm1"
      },
      {
        "slug": "tardbp",
        "symbol": "TARDBP",
        "hgnc": "HGNC:11571",
        "name": "TAR DNA binding protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tardbp"
      },
      {
        "slug": "tbk1",
        "symbol": "TBK1",
        "hgnc": "HGNC:11584",
        "name": "TANK binding kinase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbk1"
      },
      {
        "slug": "ttn",
        "symbol": "TTN",
        "hgnc": "HGNC:12403",
        "name": "titin",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ttn"
      },
      {
        "slug": "tuba1a",
        "symbol": "TUBA1A",
        "hgnc": "HGNC:20766",
        "name": "tubulin alpha 1a",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tuba1a"
      },
      {
        "slug": "dna2",
        "symbol": "DNA2",
        "hgnc": "HGNC:2939",
        "name": "DNA replication helicase/nuclease 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dna2"
      },
      {
        "slug": "gpr35",
        "symbol": "GPR35",
        "hgnc": "HGNC:4492",
        "name": "G protein-coupled receptor 35",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpr35"
      },
      {
        "slug": "hnrnpa1",
        "symbol": "HNRNPA1",
        "hgnc": "HGNC:5031",
        "name": "heterogeneous nuclear ribonucleoprotein A1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hnrnpa1"
      },
      {
        "slug": "hnrnpa2b1",
        "symbol": "HNRNPA2B1",
        "hgnc": "HGNC:5033",
        "name": "heterogeneous nuclear ribonucleoprotein A2/B1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hnrnpa2b1"
      },
      {
        "slug": "mst1",
        "symbol": "MST1",
        "hgnc": "HGNC:7380",
        "name": "macrophage stimulating 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mst1"
      },
      {
        "slug": "mypn",
        "symbol": "MYPN",
        "hgnc": "HGNC:23246",
        "name": "myopalladin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mypn"
      },
      {
        "slug": "notch2nlc",
        "symbol": "NOTCH2NLC",
        "hgnc": "HGNC:53924",
        "name": "notch 2 N-terminal like C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch2nlc"
      },
      {
        "slug": "polg",
        "symbol": "POLG",
        "hgnc": "HGNC:9179",
        "name": "DNA polymerase gamma, catalytic subunit",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/polg"
      },
      {
        "slug": "pomt1",
        "symbol": "POMT1",
        "hgnc": "HGNC:9202",
        "name": "protein O-mannosyltransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt1"
      },
      {
        "slug": "rbm28",
        "symbol": "RBM28",
        "hgnc": "HGNC:21863",
        "name": "RNA binding motif protein 28",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rbm28"
      },
      {
        "slug": "rnf170",
        "symbol": "RNF170",
        "hgnc": "HGNC:25358",
        "name": "ring finger protein 170",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnf170"
      },
      {
        "slug": "sema4d",
        "symbol": "SEMA4D",
        "hgnc": "HGNC:10732",
        "name": "semaphorin 4D",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sema4d"
      },
      {
        "slug": "tcf4",
        "symbol": "TCF4",
        "hgnc": "HGNC:11634",
        "name": "transcription factor 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tcf4"
      },
      {
        "slug": "tpm2",
        "symbol": "TPM2",
        "hgnc": "HGNC:12011",
        "name": "tropomyosin 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpm2"
      },
      {
        "slug": "tpm3",
        "symbol": "TPM3",
        "hgnc": "HGNC:12012",
        "name": "tropomyosin 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpm3"
      },
      {
        "slug": "twnk",
        "symbol": "TWNK",
        "hgnc": "HGNC:1160",
        "name": "twinkle mtDNA helicase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/twnk"
      },
      {
        "slug": "unc45b",
        "symbol": "UNC45B",
        "hgnc": "HGNC:14304",
        "name": "unc-45 myosin chaperone B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/unc45b"
      },
      {
        "slug": "dnajc19",
        "symbol": "DNAJC19",
        "hgnc": "HGNC:30528",
        "name": "DnaJ heat shock protein family (Hsp40) member C19",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnajc19"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "hgnc": "HGNC:9722",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aldh18a1"
      },
      {
        "slug": "bag3",
        "symbol": "BAG3",
        "hgnc": "HGNC:939",
        "name": "BAG cochaperone 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bag3"
      },
      {
        "slug": "lamp2",
        "symbol": "LAMP2",
        "hgnc": "HGNC:6501",
        "name": "lysosome associated membrane protein 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lamp2"
      },
      {
        "slug": "pyroxd1",
        "symbol": "PYROXD1",
        "hgnc": "HGNC:26162",
        "name": "pyridine nucleotide-disulphide oxidoreductase domain 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pyroxd1"
      },
      {
        "slug": "slc16a2",
        "symbol": "SLC16A2",
        "hgnc": "HGNC:10923",
        "name": "solute carrier family 16 member 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc16a2"
      },
      {
        "slug": "slc52a2",
        "symbol": "SLC52A2",
        "hgnc": "HGNC:30224",
        "name": "solute carrier family 52 member 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc52a2"
      },
      {
        "slug": "tk2",
        "symbol": "TK2",
        "hgnc": "HGNC:11831",
        "name": "thymidine kinase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tk2"
      },
      {
        "slug": "trip4",
        "symbol": "TRIP4",
        "hgnc": "HGNC:12310",
        "name": "thyroid hormone receptor interactor 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trip4"
      },
      {
        "slug": "yars2",
        "symbol": "YARS2",
        "hgnc": "HGNC:24249",
        "name": "tyrosyl-tRNA synthetase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/yars2"
      }
    ]
  }
}