{
  "url": "https://dantelabs.com/el/genes/hjv",
  "gene": {
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    "symbol": "HJV",
    "name": "hemojuvelin BMP co-receptor",
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    "location": "1q21.1",
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      "JH",
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      "HFE2"
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    "entrezId": 148738,
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    "uniprot": [
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      "refseqTranscript": "NM_213653.4",
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      "refseqProtein": "NP_998818.1",
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        {
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        {
          "symbol": "ITGA10",
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        {
          "symbol": "PEX11B",
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        {
          "symbol": "",
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        {
          "symbol": "RBM8A",
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        {
          "symbol": "",
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        {
          "symbol": "LIX1L",
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        {
          "symbol": "POLR3GL",
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        {
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          "biotype": "protein_coding",
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          "slug": "ankrd34a"
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        {
          "symbol": "TXNIP",
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          "biotype": "protein_coding",
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        {
          "symbol": "NBPF10",
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        {
          "symbol": "NOTCH2NLA",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "PPIAL4H",
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          "strand": "-",
          "slug": "ppial4h"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hemochromatosis",
        "name": "Αιμochρωμάτωση",
        "diseases": [
          {
            "mondoId": "MONDO:0006507",
            "name": "Κληρονομική Αιμochρωμάτωση",
            "genes": 6,
            "inheritance": null,
            "description": "Κληρονομική μεταβολική διαταραχή που χαρακτηρίζεται από συσσώρευση σιδήρου στους ιστούς.",
            "management": "Φλεβοτομία, χηλική θεραπεία σιδήρου, διατροφή με περιορισμό σιδήρου, έλεγχος συγγενών",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/hemochromatosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "amenorrhea",
        "name": "Abnormal absence of menstruation",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/amenorrhea"
      },
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "abnormality-of-endocrine-pancreas-physiology",
        "name": "Abnormality of endocrine pancreas physiology",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-endocrine-pancreas-physiology"
      },
      {
        "slug": "abnormality-of-iron-homeostasis",
        "name": "Abnormality of iron homeostasis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-iron-homeostasis"
      },
      {
        "slug": "azoospermia",
        "name": "Absent sperm in semen",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/azoospermia"
      },
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "hypogonadism",
        "name": "Decreased activity of gonads",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypogonadism"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "impotence",
        "name": "Difficulty getting a full erection",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impotence"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "arthropathy",
        "name": "Disease of the joints",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arthropathy"
      },
      {
        "slug": "elevated-circulating-iron-concentration",
        "name": "Elevated circulating iron concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-iron-concentration"
      },
      {
        "slug": "increased-circulating-ferritin-concentration",
        "name": "Elevated serum ferritin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-ferritin-concentration"
      },
      {
        "slug": "elevated-transferrin-saturation",
        "name": "Elevated transferrin saturation",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-transferrin-saturation"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "congenital-hepatic-fibrosis",
        "name": "Excessive buildup of connective tissue and scarring of liver at birth",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/congenital-hepatic-fibrosis"
      },
      {
        "slug": "generalized-hyperpigmentation",
        "name": "Generalized hyperpigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hyperpigmentation"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "hypogonadotropic-hypogonadism",
        "name": "Hypogonadotropic hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "infertility",
        "name": "Infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/infertility"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "hyperpigmentation-of-the-skin",
        "name": "Patchy darkened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      }
    ],
    "related": [
      {
        "slug": "cybrd1",
        "symbol": "CYBRD1",
        "name": "cytochrome b reductase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cybrd1"
      },
      {
        "slug": "hamp",
        "symbol": "HAMP",
        "name": "hepcidin antimicrobial peptide",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/hamp"
      },
      {
        "slug": "hfe",
        "symbol": "HFE",
        "name": "homeostatic iron regulator",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/hfe"
      },
      {
        "slug": "slc40a1",
        "symbol": "SLC40A1",
        "name": "solute carrier family 40 member 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/slc40a1"
      },
      {
        "slug": "tfr2",
        "symbol": "TFR2",
        "name": "transferrin receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/tfr2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}