{
  "url": "https://dantelabs.com/el/genes/pomc",
  "gene": {
    "slug": "pomc",
    "symbol": "POMC",
    "name": "proopiomelanocortin",
    "hgnc": "HGNC:9201",
    "summary": null,
    "location": "2p23.3",
    "locusType": "gene with protein product",
    "aliases": [
      "MSH",
      "POC",
      "CLIP",
      "ACTH",
      "NPP",
      "LPH"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000115138",
    "entrezId": 5443,
    "omim": [
      "176830"
    ],
    "uniprot": [
      "P01189"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 25160860,
      "end": 25168580,
      "strand": "-",
      "ensemblTranscript": "ENST00000395826.7",
      "refseqTranscript": "NM_000939.4",
      "ensemblProtein": "ENSP00000379170.2",
      "refseqProtein": "NP_000930.1",
      "exons": [
        {
          "start": 25160860,
          "end": 25161752
        },
        {
          "start": 25164641,
          "end": 25164792
        },
        {
          "start": 25168498,
          "end": 25168580
        }
      ],
      "cds": {
        "start": 25161081,
        "end": 25164772
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 25383722,
      "end": 25391772,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 24664720,
      "end": 25664719,
      "genes": [
        {
          "symbol": "NCOA1",
          "ensemblId": "ENSG00000084676",
          "biotype": "protein_coding",
          "start": 24490983,
          "end": 24770702,
          "strand": "+",
          "slug": "ncoa1"
        },
        {
          "symbol": "PTRHD1",
          "ensemblId": "ENSG00000184924",
          "biotype": "protein_coding",
          "start": 24788911,
          "end": 24793395,
          "strand": "-",
          "slug": "ptrhd1"
        },
        {
          "symbol": "CENPO",
          "ensemblId": "ENSG00000138092",
          "biotype": "protein_coding",
          "start": 24793100,
          "end": 24822376,
          "strand": "+",
          "slug": "cenpo"
        },
        {
          "symbol": "ADCY3",
          "ensemblId": "ENSG00000138031",
          "biotype": "protein_coding",
          "start": 24819169,
          "end": 24920299,
          "strand": "-",
          "slug": "adcy3"
        },
        {
          "symbol": "DNAJC27",
          "ensemblId": "ENSG00000115137",
          "biotype": "protein_coding",
          "start": 24943636,
          "end": 24972094,
          "strand": "-",
          "slug": "dnajc27"
        },
        {
          "symbol": "EFR3B",
          "ensemblId": "ENSG00000084710",
          "biotype": "protein_coding",
          "start": 25042048,
          "end": 25159135,
          "strand": "+",
          "slug": "efr3b"
        },
        {
          "symbol": "DNMT3A",
          "ensemblId": "ENSG00000119772",
          "biotype": "protein_coding",
          "start": 25227855,
          "end": 25342590,
          "strand": "-",
          "slug": "dnmt3a"
        },
        {
          "symbol": "DTNB",
          "ensemblId": "ENSG00000138101",
          "biotype": "protein_coding",
          "start": 25377028,
          "end": 25673717,
          "strand": "-",
          "slug": "dtnb"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "monogenic-obesity-leptin-melanocortin-pathway",
        "name": "Μονογονιδιακή παχυσαρκία (οδός λεπτίνης-μελανοκορτίνης)",
        "diseases": [
          {
            "mondoId": "MONDO:0019182",
            "name": "Κληρονομική παχυσαρκία (οδός λεπτίνης-μελανοκορτίνης)",
            "genes": 7,
            "inheritance": null,
            "description": "Σοβαρή παχυσαρκία με πρώιμη έναρξη, που προκαλείται από μονογονιδιακές διαταραχές στη ρύθμιση της όρεξης, συμπεριλαμβανομένων των ελλείψεων MC4R, SIM1 (επικρατής) και LEP, LEPR, POMC και PCSK1 (υπολειπόμενη).",
            "management": "Για ορισμένες μορφές υπάρχουν στοχευμένα φάρμακα: η μετρελεπτίνη για έλλειψη λεπτίνης και η σεταμελανοτίδη για έλλειψη POMC, PCSK1 και LEPR.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/monogenic-obesity-leptin-melanocortin-pathway"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "adrenal-insufficiency",
        "name": "Adrenal insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/adrenal-insufficiency"
      },
      {
        "slug": "adrenocorticotropic-hormone-deficiency",
        "name": "Adrenocorticotropic hormone deficiency",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/adrenocorticotropic-hormone-deficiency"
      },
      {
        "slug": "central-adrenal-insufficiency",
        "name": "Central adrenal insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/central-adrenal-insufficiency"
      },
      {
        "slug": "childhood-onset-truncal-obesity",
        "name": "Childhood-onset truncal obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/childhood-onset-truncal-obesity"
      },
      {
        "slug": "acanthosis-nigricans",
        "name": "Darkened and thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acanthosis-nigricans"
      },
      {
        "slug": "decreased-growth-hormone-responses-to-growth-hormone-releasing-hormone-challenge",
        "name": "Decreased growth hormone responses to growth hormone-releasing hormone challenge",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-growth-hormone-responses-to-growth-hormone-releasing-hormone-challenge"
      },
      {
        "slug": "decreased-response-to-growth-hormone-stimulation-test",
        "name": "Decreased response to growth hormone stimulation test",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-response-to-growth-hormone-stimulation-test"
      },
      {
        "slug": "decreased-resting-energy-expenditure",
        "name": "Decreased resting energy expenditure",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-resting-energy-expenditure"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "gonadotropin-deficiency",
        "name": "Gonadotropin deficiency",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gonadotropin-deficiency"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hyperbilirubinemia",
        "name": "High blood bilirubin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperbilirubinemia"
      },
      {
        "slug": "hyperinsulinemia",
        "name": "Hyperinsulinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperinsulinemia"
      },
      {
        "slug": "hypoglycemic-seizures",
        "name": "Hypoglycemic seizures",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoglycemic-seizures"
      },
      {
        "slug": "increased-adipose-tissue",
        "name": "Increased adipose tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-adipose-tissue"
      },
      {
        "slug": "polyphagia",
        "name": "Increased appetite",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/polyphagia"
      },
      {
        "slug": "increased-waist-to-hip-ratio",
        "name": "Increased waist to hip ratio",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/increased-waist-to-hip-ratio"
      },
      {
        "slug": "decreased-circulating-cortisol-level",
        "name": "Low blood cortisol level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-cortisol-level"
      },
      {
        "slug": "pituitary-hypothyroidism",
        "name": "Low thyroid gland function due to abnormal pituitary gland",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pituitary-hypothyroidism"
      },
      {
        "slug": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "hypopigmentation-of-the-skin",
        "name": "Patchy lightened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypopigmentation-of-the-skin"
      },
      {
        "slug": "red-hair",
        "name": "Red hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/red-hair"
      },
      {
        "slug": "cholestasis",
        "name": "Slowed or blocked flow of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cholestasis"
      },
      {
        "slug": "adrenal-hypoplasia",
        "name": "Small adrenal glands",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/adrenal-hypoplasia"
      }
    ],
    "related": [
      {
        "slug": "cep19",
        "symbol": "CEP19",
        "name": "centrosomal protein 19",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cep19"
      },
      {
        "slug": "lep",
        "symbol": "LEP",
        "name": "leptin",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/lep"
      },
      {
        "slug": "lepr",
        "symbol": "LEPR",
        "name": "leptin receptor",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/lepr"
      },
      {
        "slug": "mc4r",
        "symbol": "MC4R",
        "name": "melanocortin 4 receptor",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/mc4r"
      },
      {
        "slug": "pcsk1",
        "symbol": "PCSK1",
        "name": "proprotein convertase subtilisin/kexin type 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/pcsk1"
      },
      {
        "slug": "sim1",
        "symbol": "SIM1",
        "name": "SIM bHLH transcription factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/sim1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}