{
  "url": "https://dantelabs.com/traits/diffuse-mesangial-sclerosis",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "diffuse-mesangial-sclerosis",
    "id": "HP:0001967",
    "name": "Diffuse mesangial sclerosis",
    "definition": "Thickening and scarring (sclerosis) of the mesangium (a structure in the glomerulus). The sclerosis affects a large portion of the mesangium across multiple glomeruli. Histologic features include an increase in the mesangial matrix, thickened glomerular basement membrane, tubular casts, and interstitial inflammation. Diffuse mesangial sclerosis presents with nephrotic syndrome at birth or within the first year of life. Glomeruli are small and condensed in appearance, with early lesions showing increased loose mesangial collagen that progress to sclerosis with dense collagen without hypercellularity. Podocytes do not show hyperplasia but may be immature and cobblestone-like. Electron microscopy shows extensive foot process effacement without deposits, but increased collagen within mesangial areas.",
    "synonyms": [
      "Diffuse mesangial sclerosis glomerulopathy",
      "Mesangial sclerosis"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-genitourinary-system",
        "name": "Abnormality of the genitourinary system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-glomerular-mesangium-morphology",
        "name": "Abnormal glomerular mesangium morphology",
        "url": "https://dantelabs.com/traits/abnormal-glomerular-mesangium-morphology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "arhgdia",
        "symbol": "ARHGDIA",
        "hgnc": "HGNC:678",
        "name": "Rho GDP dissociation inhibitor alpha",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/arhgdia"
      },
      {
        "slug": "avil",
        "symbol": "AVIL",
        "hgnc": "HGNC:14188",
        "name": "advillin",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/avil"
      },
      {
        "slug": "lamb2",
        "symbol": "LAMB2",
        "hgnc": "HGNC:6487",
        "name": "laminin subunit beta 2",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/lamb2"
      },
      {
        "slug": "wt1",
        "symbol": "WT1",
        "hgnc": "HGNC:12796",
        "name": "WT1 transcription factor",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/wt1"
      },
      {
        "slug": "yrdc",
        "symbol": "YRDC",
        "hgnc": "HGNC:28905",
        "name": "yrdC N6-threonylcarbamoyltransferase domain containing",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/yrdc"
      },
      {
        "slug": "plce1",
        "symbol": "PLCE1",
        "hgnc": "HGNC:17175",
        "name": "phospholipase C epsilon 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/plce1"
      },
      {
        "slug": "actn4",
        "symbol": "ACTN4",
        "hgnc": "HGNC:166",
        "name": "actinin alpha 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/actn4"
      },
      {
        "slug": "ankfy1",
        "symbol": "ANKFY1",
        "hgnc": "HGNC:20763",
        "name": "ankyrin repeat and FYVE domain containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ankfy1"
      },
      {
        "slug": "anln",
        "symbol": "ANLN",
        "hgnc": "HGNC:14082",
        "name": "anillin, actin binding protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/anln"
      },
      {
        "slug": "apol1",
        "symbol": "APOL1",
        "hgnc": "HGNC:618",
        "name": "apolipoprotein L1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/apol1"
      },
      {
        "slug": "arhgap24",
        "symbol": "ARHGAP24",
        "hgnc": "HGNC:25361",
        "name": "Rho GTPase activating protein 24",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arhgap24"
      },
      {
        "slug": "cd2ap",
        "symbol": "CD2AP",
        "hgnc": "HGNC:14258",
        "name": "CD2 associated protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cd2ap"
      },
      {
        "slug": "col4a3",
        "symbol": "COL4A3",
        "hgnc": "HGNC:2204",
        "name": "collagen type IV alpha 3 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col4a3"
      },
      {
        "slug": "coq6",
        "symbol": "COQ6",
        "hgnc": "HGNC:20233",
        "name": "coenzyme Q6, monooxygenase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/coq6"
      },
      {
        "slug": "coq8b",
        "symbol": "COQ8B",
        "hgnc": "HGNC:19041",
        "name": "coenzyme Q8B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/coq8b"
      },
      {
        "slug": "crb2",
        "symbol": "CRB2",
        "hgnc": "HGNC:18688",
        "name": "crumbs cell polarity complex component 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crb2"
      },
      {
        "slug": "daam2",
        "symbol": "DAAM2",
        "hgnc": "HGNC:18143",
        "name": "dishevelled associated activator of morphogenesis 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/daam2"
      },
      {
        "slug": "emp2",
        "symbol": "EMP2",
        "hgnc": "HGNC:3334",
        "name": "epithelial membrane protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/emp2"
      },
      {
        "slug": "gapvd1",
        "symbol": "GAPVD1",
        "hgnc": "HGNC:23375",
        "name": "GTPase activating protein and VPS9 domains 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gapvd1"
      },
      {
        "slug": "inf2",
        "symbol": "INF2",
        "hgnc": "HGNC:23791",
        "name": "inverted formin 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/inf2"
      },
      {
        "slug": "kank2",
        "symbol": "KANK2",
        "hgnc": "HGNC:29300",
        "name": "KN motif and ankyrin repeat domains 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kank2"
      },
      {
        "slug": "lama5",
        "symbol": "LAMA5",
        "hgnc": "HGNC:6485",
        "name": "laminin subunit alpha 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lama5"
      },
      {
        "slug": "magi2",
        "symbol": "MAGI2",
        "hgnc": "HGNC:18957",
        "name": "membrane associated guanylate kinase, WW and PDZ domain containing 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/magi2"
      },
      {
        "slug": "myo1e",
        "symbol": "MYO1E",
        "hgnc": "HGNC:7599",
        "name": "myosin IE",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myo1e"
      },
      {
        "slug": "nphs1",
        "symbol": "NPHS1",
        "hgnc": "HGNC:7908",
        "name": "NPHS1 adhesion molecule, nephrin",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nphs1"
      },
      {
        "slug": "nphs2",
        "symbol": "NPHS2",
        "hgnc": "HGNC:13394",
        "name": "NPHS2 stomatin family member, podocin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nphs2"
      },
      {
        "slug": "nup107",
        "symbol": "NUP107",
        "hgnc": "HGNC:29914",
        "name": "nucleoporin 107",
        "frequency": "occasional",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/nup107"
      },
      {
        "slug": "nup133",
        "symbol": "NUP133",
        "hgnc": "HGNC:18016",
        "name": "nucleoporin 133",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nup133"
      },
      {
        "slug": "nup160",
        "symbol": "NUP160",
        "hgnc": "HGNC:18017",
        "name": "nucleoporin 160",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nup160"
      },
      {
        "slug": "nup205",
        "symbol": "NUP205",
        "hgnc": "HGNC:18658",
        "name": "nucleoporin 205",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nup205"
      },
      {
        "slug": "nup37",
        "symbol": "NUP37",
        "hgnc": "HGNC:29929",
        "name": "nucleoporin 37",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nup37"
      },
      {
        "slug": "nup85",
        "symbol": "NUP85",
        "hgnc": "HGNC:8734",
        "name": "nucleoporin 85",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nup85"
      },
      {
        "slug": "nup93",
        "symbol": "NUP93",
        "hgnc": "HGNC:28958",
        "name": "nucleoporin 93",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nup93"
      },
      {
        "slug": "pax2",
        "symbol": "PAX2",
        "hgnc": "HGNC:8616",
        "name": "paired box 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pax2"
      },
      {
        "slug": "ptpro",
        "symbol": "PTPRO",
        "hgnc": "HGNC:9678",
        "name": "protein tyrosine phosphatase receptor type O",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptpro"
      },
      {
        "slug": "tbc1d8b",
        "symbol": "TBC1D8B",
        "hgnc": "HGNC:24715",
        "name": "TBC1 domain family member 8B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbc1d8b"
      },
      {
        "slug": "tp53rk",
        "symbol": "TP53RK",
        "hgnc": "HGNC:16197",
        "name": "TP53 regulating kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tp53rk"
      },
      {
        "slug": "trpc6",
        "symbol": "TRPC6",
        "hgnc": "HGNC:12338",
        "name": "transient receptor potential cation channel subfamily C member 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trpc6"
      },
      {
        "slug": "ada",
        "symbol": "ADA",
        "hgnc": "HGNC:186",
        "name": "adenosine deaminase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ada"
      },
      {
        "slug": "osgep",
        "symbol": "OSGEP",
        "hgnc": "HGNC:18028",
        "name": "O-sialoglycoprotein endopeptidase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/osgep"
      },
      {
        "slug": "sgpl1",
        "symbol": "SGPL1",
        "hgnc": "HGNC:10817",
        "name": "sphingosine-1-phosphate lyase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sgpl1"
      },
      {
        "slug": "wdr73",
        "symbol": "WDR73",
        "hgnc": "HGNC:25928",
        "name": "WD repeat domain 73",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr73"
      }
    ]
  }
}