{
  "url": "https://dantelabs.com/el/genes/sfrp4",
  "gene": {
    "slug": "sfrp4",
    "symbol": "SFRP4",
    "name": "secreted frizzled related protein 4",
    "hgnc": "HGNC:10778",
    "summary": null,
    "location": "7p14.1",
    "locusType": "gene with protein product",
    "aliases": [
      "frpHE",
      "FRP-4",
      "FRPHE",
      "FRZB-2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000106483",
    "entrezId": 6424,
    "omim": [
      "606570"
    ],
    "uniprot": [
      "Q6FHJ7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 37905932,
      "end": 37916817,
      "strand": "-",
      "ensemblTranscript": "ENST00000436072.7",
      "refseqTranscript": "NM_003014.4",
      "ensemblProtein": "ENSP00000410715.2",
      "refseqProtein": "NP_003005.2",
      "exons": [
        {
          "start": 37905932,
          "end": 37907664
        },
        {
          "start": 37909617,
          "end": 37909680
        },
        {
          "start": 37912119,
          "end": 37912317
        },
        {
          "start": 37914213,
          "end": 37914278
        },
        {
          "start": 37914373,
          "end": 37914453
        },
        {
          "start": 37916093,
          "end": 37916817
        }
      ],
      "cds": {
        "start": 37907479,
        "end": 37916537
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 37945543,
      "end": 38065297,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 37411375,
      "end": 38411374,
      "genes": [
        {
          "symbol": "ELMO1",
          "ensemblId": "ENSG00000155849",
          "biotype": "protein_coding",
          "start": 36852906,
          "end": 37449435,
          "strand": "-",
          "slug": "elmo1"
        },
        {
          "symbol": "GPR141",
          "ensemblId": "ENSG00000187037",
          "biotype": "protein_coding",
          "start": 37683721,
          "end": 37833788,
          "strand": "+",
          "slug": "gpr141"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000290149",
          "biotype": "protein_coding",
          "start": 37683843,
          "end": 37950412,
          "strand": "+"
        },
        {
          "symbol": "NME8",
          "ensemblId": "ENSG00000086288",
          "biotype": "protein_coding",
          "start": 37848597,
          "end": 37900397,
          "strand": "+",
          "slug": "nme8"
        },
        {
          "symbol": "EPDR1",
          "ensemblId": "ENSG00000086289",
          "biotype": "protein_coding",
          "start": 37920603,
          "end": 38014664,
          "strand": "+",
          "slug": "epdr1"
        },
        {
          "symbol": "STARD3NL",
          "ensemblId": "ENSG00000010270",
          "biotype": "protein_coding",
          "start": 38178217,
          "end": 38230688,
          "strand": "+",
          "slug": "stard3nl"
        },
        {
          "symbol": "TARP",
          "ensemblId": "ENSG00000289746",
          "biotype": "protein_coding",
          "start": 38259643,
          "end": 38273636,
          "strand": "-"
        },
        {
          "symbol": "AMPH",
          "ensemblId": "ENSG00000078053",
          "biotype": "protein_coding",
          "start": 38383700,
          "end": 38631512,
          "strand": "-",
          "slug": "amph"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "sclerosing-bone-dysplasias",
        "name": "Σκληρωτικές οστικές δυσπλασίες (υψηλή οστική μάζα)",
        "diseases": [
          {
            "mondoId": "MONDO:0009943",
            "name": "Νόσος Pyle",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Πάθηση που οφείλεται σε παραλλαγές του SFRP4, κατά την οποία τα άκρα των μακρών οστών διευρύνονται και έχουν λεπτά τοιχώματα, με τάση για κατάγματα.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/sclerosing-bone-dysplasias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-thorax-morphology",
        "name": "Abnormality of the chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-thorax-morphology"
      },
      {
        "slug": "back-pain",
        "name": "Back pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/back-pain"
      },
      {
        "slug": "dental-malocclusion",
        "name": "Bad bite",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dental-malocclusion"
      },
      {
        "slug": "mandibular-prognathia",
        "name": "Big lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mandibular-prognathia"
      },
      {
        "slug": "metaphyseal-widening",
        "name": "Broad wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metaphyseal-widening"
      },
      {
        "slug": "craniofacial-osteosclerosis",
        "name": "Craniofacial osteosclerosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/craniofacial-osteosclerosis"
      },
      {
        "slug": "delayed-eruption-of-permanent-teeth",
        "name": "Delayed eruption of permanent teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-permanent-teeth"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "slug": "persistence-of-primary-teeth",
        "name": "Delayed loss of baby teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/persistence-of-primary-teeth"
      },
      {
        "slug": "carious-teeth",
        "name": "Dental cavities",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/carious-teeth"
      },
      {
        "slug": "enlarged-metaphyses",
        "name": "Enlarged wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/enlarged-metaphyses"
      },
      {
        "slug": "erlenmeyer-flask-deformity-of-the-femurs",
        "name": "Erlenmeyer flask shaped thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/erlenmeyer-flask-deformity-of-the-femurs"
      },
      {
        "slug": "wormian-bones",
        "name": "Extra bones within cranial sutures",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wormian-bones"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "hypoplastic-frontal-sinuses",
        "name": "Hypoplastic frontal sinuses",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplastic-frontal-sinuses"
      },
      {
        "slug": "increased-susceptibility-to-fractures",
        "name": "Increased susceptibility to fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures"
      },
      {
        "slug": "thickened-calvaria",
        "name": "Increased thickness of skull cap",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thickened-calvaria"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "genu-valgum",
        "name": "Knock knees",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/genu-valgum"
      },
      {
        "slug": "limited-elbow-extension",
        "name": "Limited elbow extension",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/limited-elbow-extension"
      },
      {
        "slug": "reduced-bone-mineral-density",
        "name": "Low solidness and mass of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-bone-mineral-density"
      },
      {
        "slug": "medial-widening-of-clavicle",
        "name": "Medial widening of clavicle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/medial-widening-of-clavicle"
      },
      {
        "slug": "metaphyseal-dysplasia",
        "name": "Metaphyseal dysplasia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-dysplasia"
      },
      {
        "slug": "absent-paranasal-sinuses",
        "name": "Missing paranasal sinuses",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-paranasal-sinuses"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "cubitus-valgus",
        "name": "Outward turned elbows",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cubitus-valgus"
      },
      {
        "slug": "protruding-ear",
        "name": "Prominent ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/protruding-ear"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "thin-bony-cortex",
        "name": "Thin bony cortex",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thin-bony-cortex"
      },
      {
        "slug": "thin-calvarium",
        "name": "Thin cranial bone",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thin-calvarium"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}