{
  "url": "https://dantelabs.com/fi/genes/dsg1",
  "gene": {
    "slug": "dsg1",
    "symbol": "DSG1",
    "name": "desmoglein 1",
    "hgnc": "HGNC:3048",
    "summary": null,
    "location": "18q12.1",
    "locusType": "gene with protein product",
    "aliases": [
      "CDHF4"
    ],
    "previousSymbols": [
      "DSG"
    ],
    "ensemblId": "ENSG00000134760",
    "entrezId": 1828,
    "omim": [
      "125670"
    ],
    "uniprot": [
      "Q02413"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "18",
      "start": 31318160,
      "end": 31359246,
      "strand": "+",
      "ensemblTranscript": "ENST00000257192.5",
      "refseqTranscript": "NM_001942.4",
      "ensemblProtein": "ENSP00000257192.4",
      "refseqProtein": "NP_001933.2",
      "exons": [
        {
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          "end": 31318348
        },
        {
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        },
        {
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        },
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        {
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        {
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        },
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        {
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        },
        {
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          "end": 31359246
        }
      ],
      "cds": {
        "start": 31318301,
        "end": 31355346
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "18",
      "start": 28898052,
      "end": 28936992,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 30838703,
      "end": 31838702,
      "genes": [
        {
          "symbol": "DSC3",
          "ensemblId": "ENSG00000134762",
          "biotype": "protein_coding",
          "start": 30989365,
          "end": 31042976,
          "strand": "-",
          "slug": "dsc3"
        },
        {
          "symbol": "DSC2",
          "ensemblId": "ENSG00000134755",
          "biotype": "protein_coding",
          "start": 31058545,
          "end": 31102600,
          "strand": "-",
          "slug": "dsc2"
        },
        {
          "symbol": "DSC1",
          "ensemblId": "ENSG00000134765",
          "biotype": "protein_coding",
          "start": 31129236,
          "end": 31162981,
          "strand": "-",
          "slug": "dsc1"
        },
        {
          "symbol": "DSG4",
          "ensemblId": "ENSG00000175065",
          "biotype": "protein_coding",
          "start": 31376777,
          "end": 31414979,
          "strand": "+",
          "slug": "dsg4"
        },
        {
          "symbol": "DSG3",
          "ensemblId": "ENSG00000134757",
          "biotype": "protein_coding",
          "start": 31447741,
          "end": 31478702,
          "strand": "+",
          "slug": "dsg3"
        },
        {
          "symbol": "DSG2",
          "ensemblId": "ENSG00000046604",
          "biotype": "protein_coding",
          "start": 31497624,
          "end": 31551351,
          "strand": "+",
          "slug": "dsg2"
        },
        {
          "symbol": "TTR",
          "ensemblId": "ENSG00000118271",
          "biotype": "protein_coding",
          "start": 31557008,
          "end": 31606585,
          "strand": "+",
          "slug": "ttr"
        },
        {
          "symbol": "B4GALT6",
          "ensemblId": "ENSG00000118276",
          "biotype": "protein_coding",
          "start": 31621684,
          "end": 31685836,
          "strand": "-",
          "slug": "b4galt6"
        },
        {
          "symbol": "SLC25A52",
          "ensemblId": "ENSG00000141437",
          "biotype": "protein_coding",
          "start": 31759584,
          "end": 31760880,
          "strand": "-",
          "slug": "slc25a52"
        },
        {
          "symbol": "TRAPPC8",
          "ensemblId": "ENSG00000153339",
          "biotype": "protein_coding",
          "start": 31829187,
          "end": 31953136,
          "strand": "-",
          "slug": "trappc8"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-palmoplantar-keratodermas",
        "name": "Perinnölliset kämmenten ja jalkapohjien keratodermat ja pachyonychia congenita",
        "diseases": [
          {
            "mondoId": "MONDO:0019272",
            "name": "Perinnöllinen kämmenten ja jalkapohjien keratodermia",
            "genes": 35,
            "inheritance": null,
            "description": "Kämmenten ja jalkapohjien perinnöllinen paksuuntuminen, mukaan lukien pachyonychia congenita, mal de Meleda, Nagashiman tyypin ja Bothnian keratodermat, keratitis-ichthyosis-deafness-oireyhtymä sekä CTSC-geeniin liittyvät Papillon-Lefèvren ja Haim-Munkin oireyhtymät.",
            "management": "Diagnoosi ohjaa jalkojen hoitoa ja kivunhallintaa. CTSC-geeniin liittyvissä muodoissa varhainen hammashoito suojaa hampaita, ja GJB2-geeniin liittyvissä muodoissa kuulo kannattaa tarkistaa.",
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/hereditary-palmoplantar-keratodermas"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-hair-morphology",
        "name": "Abnormality of the hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-hair-morphology"
      },
      {
        "slug": "abnormal-nail-morphology",
        "name": "Abnormality of the nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-nail-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "acantholysis",
        "name": "Acantholysis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/acantholysis"
      },
      {
        "slug": "onycholysis",
        "name": "Detachment of nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/onycholysis"
      },
      {
        "slug": "eosinophilic-infiltration-of-the-esophagus",
        "name": "Eosinophilic infiltration of the esophagus",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eosinophilic-infiltration-of-the-esophagus"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "food-allergy",
        "name": "Food allergy",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/food-allergy"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hypernatremia",
        "name": "High blood sodium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypernatremia"
      },
      {
        "slug": "hypergranulosis",
        "name": "Hypergranulosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypergranulosis"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "increased-circulating-ige-concentration",
        "name": "Increased circulating IgE concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-ige-concentration"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "multiple-muscular-ventricular-septal-defects",
        "name": "Multiple muscular ventricular septal defects",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/multiple-muscular-ventricular-septal-defects"
      },
      {
        "slug": "pulmonic-stenosis",
        "name": "Narrowing of pulmonic valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonic-stenosis"
      },
      {
        "slug": "orthokeratosis",
        "name": "Orthokeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/orthokeratosis"
      },
      {
        "slug": "orthokeratotic-hyperkeratosis",
        "name": "Orthokeratotic hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/orthokeratotic-hyperkeratosis"
      },
      {
        "slug": "palmoplantar-blistering",
        "name": "Palmoplantar blistering",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/palmoplantar-blistering"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "psoriasiform-dermatitis",
        "name": "Psoriasiform dermatitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/psoriasiform-dermatitis"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-skin-infections",
        "name": "Recurrent skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-skin-infections"
      },
      {
        "slug": "erythroderma",
        "name": "Red scaly skin caused by inflammatory skin disease",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/erythroderma"
      },
      {
        "slug": "reduced-circulating-growth-hormone-concentration",
        "name": "Reduced circulating growth hormone concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-circulating-growth-hormone-concentration"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "streaks-of-hyperkeratosis-along-each-finger-onto-the-palm",
        "name": "Streaks of hyperkeratosis along each finger onto the palm",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/streaks-of-hyperkeratosis-along-each-finger-onto-the-palm"
      },
      {
        "slug": "palmoplantar-keratoderma",
        "name": "Thickening of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/palmoplantar-keratoderma"
      },
      {
        "slug": "palmoplantar-hyperkeratosis",
        "name": "Thickening of the outer layer of the skin of the palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/palmoplantar-hyperkeratosis"
      },
      {
        "slug": "epidermal-acanthosis",
        "name": "Thickening of upper layer of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epidermal-acanthosis"
      },
      {
        "slug": "yellow-nails",
        "name": "Yellow nails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/yellow-nails"
      }
    ],
    "related": [
      {
        "slug": "aagab",
        "symbol": "AAGAB",
        "name": "alpha and gamma adaptin binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aagab"
      },
      {
        "slug": "ap1b1",
        "symbol": "AP1B1",
        "name": "adaptor related protein complex 1 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ap1b1"
      },
      {
        "slug": "aqp5",
        "symbol": "AQP5",
        "name": "aquaporin 5",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aqp5"
      },
      {
        "slug": "ctsc",
        "symbol": "CTSC",
        "name": "cathepsin C",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ctsc"
      },
      {
        "slug": "dsp",
        "symbol": "DSP",
        "name": "desmoplakin",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/dsp"
      },
      {
        "slug": "gja1",
        "symbol": "GJA1",
        "name": "gap junction protein alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/gja1"
      },
      {
        "slug": "gjb2",
        "symbol": "GJB2",
        "name": "gap junction protein beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/gjb2"
      },
      {
        "slug": "gjb3",
        "symbol": "GJB3",
        "name": "gap junction protein beta 3",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/gjb3"
      },
      {
        "slug": "gjb4",
        "symbol": "GJB4",
        "name": "gap junction protein beta 4",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/gjb4"
      },
      {
        "slug": "gjb6",
        "symbol": "GJB6",
        "name": "gap junction protein beta 6",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/gjb6"
      },
      {
        "slug": "grhl2",
        "symbol": "GRHL2",
        "name": "grainyhead like transcription factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/grhl2"
      },
      {
        "slug": "kdsr",
        "symbol": "KDSR",
        "name": "3-ketodihydrosphingosine reductase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/kdsr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}