{
  "url": "https://dantelabs.com/hu/genes/alpl",
  "gene": {
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    "symbol": "ALPL",
    "name": "alkaline phosphatase, biomineralization associated",
    "hgnc": "HGNC:438",
    "summary": null,
    "location": "1p36.12",
    "locusType": "gene with protein product",
    "aliases": [
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      "TNALP",
      "TNAP"
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    "previousSymbols": [
      "HOPS"
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    "ensemblId": "ENSG00000162551",
    "entrezId": 249,
    "omim": [
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    "uniprot": [
      "P05186"
    ],
    "model": {
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      "release": "v1.5",
      "chrom": "1",
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      "end": 21578410,
      "strand": "+",
      "ensemblTranscript": "ENST00000374840.8",
      "refseqTranscript": "NM_000478.6",
      "ensemblProtein": "ENSP00000363973.3",
      "refseqProtein": "NP_000469.3",
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
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      "end": 21904905,
      "strand": "+"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "EIF4G3",
          "ensemblId": "ENSG00000075151",
          "biotype": "protein_coding",
          "start": 20805989,
          "end": 21177285,
          "strand": "-",
          "slug": "eif4g3"
        },
        {
          "symbol": "ECE1",
          "ensemblId": "ENSG00000117298",
          "biotype": "protein_coding",
          "start": 21217247,
          "end": 21345912,
          "strand": "-",
          "slug": "ece1"
        },
        {
          "symbol": "NBPF3",
          "ensemblId": "ENSG00000142794",
          "biotype": "protein_coding",
          "start": 21439853,
          "end": 21485005,
          "strand": "+",
          "slug": "nbpf3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000289715",
          "biotype": "protein_coding",
          "start": 21547404,
          "end": 21554002,
          "strand": "+"
        },
        {
          "symbol": "RAP1GAP",
          "ensemblId": "ENSG00000076864",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "rap1gap"
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        {
          "symbol": "USP48",
          "ensemblId": "ENSG00000090686",
          "biotype": "protein_coding",
          "start": 21675521,
          "end": 21783618,
          "strand": "-",
          "slug": "usp48"
        },
        {
          "symbol": "LDLRAD2",
          "ensemblId": "ENSG00000187942",
          "biotype": "protein_coding",
          "start": 21812265,
          "end": 21825225,
          "strand": "+",
          "slug": "ldlrad2"
        },
        {
          "symbol": "HSPG2",
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          "biotype": "protein_coding",
          "start": 21820593,
          "end": 21937318,
          "strand": "-",
          "slug": "hspg2"
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        {
          "symbol": "CELA3B",
          "ensemblId": "ENSG00000219073",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "cela3b"
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        {
          "symbol": "CELA3A",
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        {
          "symbol": "",
          "ensemblId": "ENSG00000289694",
          "biotype": "protein_coding",
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        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hypophosphatasia",
        "name": "Hypophosphatasia",
        "diseases": [
          {
            "mondoId": "MONDO:0018570",
            "name": "Hypophosphatasia",
            "genes": 1,
            "inheritance": null,
            "description": "Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ],
              "actionability": 9
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/hypophosphatasia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "slug": "abnormal-foot-morphology",
        "name": "Abnormal feet structure",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/abnormal-foot-morphology"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "intracranial-hemorrhage",
        "name": "Bleeding within the skull",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intracranial-hemorrhage"
      },
      {
        "slug": "blue-sclerae",
        "name": "Blue outer white part of eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/blue-sclerae"
      },
      {
        "slug": "bowdler-spurs",
        "name": "Bowdler spurs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bowdler-spurs"
      },
      {
        "slug": "bowing-of-the-legs",
        "name": "Bowed legs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/bowing-of-the-legs"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "chondrocalcinosis",
        "name": "Calcium deposits in joints",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/chondrocalcinosis"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "decreased-circulating-alkaline-phosphatase-activity",
        "name": "Decreased serum alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-alkaline-phosphatase-activity"
      },
      {
        "slug": "craniosynostosis",
        "name": "Deformity of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/craniosynostosis"
      },
      {
        "slug": "carious-teeth",
        "name": "Dental cavities",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/carious-teeth"
      },
      {
        "slug": "arthropathy",
        "name": "Disease of the joints",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/arthropathy"
      },
      {
        "slug": "disproportionate-short-limb-short-stature",
        "name": "Disproportionate short-limb short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/disproportionate-short-limb-short-stature"
      },
      {
        "slug": "premature-loss-of-permanent-teeth",
        "name": "Early loss of adult teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/premature-loss-of-permanent-teeth"
      },
      {
        "slug": "premature-loss-of-primary-teeth",
        "name": "Early loss of baby teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/premature-loss-of-primary-teeth"
      },
      {
        "slug": "elevated-plasma-pyrophosphate",
        "name": "Elevated plasma pyrophosphate",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-plasma-pyrophosphate"
      },
      {
        "slug": "hypercalciuria",
        "name": "Elevated urine calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hypercalciuria"
      },
      {
        "slug": "elevated-urine-pyrophosphate",
        "name": "Elevated urine pyrophosphate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-urine-pyrophosphate"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "hypercalcemia",
        "name": "High blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypercalcemia"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "phosphoethanolaminuria",
        "name": "High urine phosphoethanolamine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/phosphoethanolaminuria"
      },
      {
        "slug": "high-pitched-cry",
        "name": "High-pitched cry",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "url": "https://dantelabs.com/traits/high-pitched-cry"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "increased-susceptibility-to-fractures",
        "name": "Increased susceptibility to fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "dolichocephaly",
        "name": "Long, narrow head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/dolichocephaly"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "metaphyseal-cupping",
        "name": "Metaphyseal cupping",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-cupping"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "rachitic-rosary",
        "name": "Rachitic rosary",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/rachitic-rosary"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "short-lower-limbs",
        "name": "Short lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-lower-limbs"
      },
      {
        "slug": "short-ribs",
        "name": "Short ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-ribs"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "skin-dimple-over-apex-of-long-bone-angulation",
        "name": "Skin dimple over apex of long bone angulation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/skin-dimple-over-apex-of-long-bone-angulation"
      },
      {
        "slug": "micromelia",
        "name": "Smaller or shorter than typical limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/micromelia"
      },
      {
        "slug": "decreased-calvarial-ossification",
        "name": "Soft skullcap",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-calvarial-ossification"
      },
      {
        "slug": "osteomalacia",
        "name": "Softening of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/osteomalacia"
      },
      {
        "slug": "pathologic-fracture",
        "name": "Spontaneous fracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pathologic-fracture"
      },
      {
        "slug": "unossified-vertebral-bodies",
        "name": "Unossified vertebral bodies",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/unossified-vertebral-bodies"
      },
      {
        "slug": "vertebral-clefting",
        "name": "Vertebral clefting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/vertebral-clefting"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "waddling-gait",
        "name": "Waddling gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/waddling-gait"
      },
      {
        "slug": "rickets",
        "name": "Weak and soft bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/rickets"
      },
      {
        "slug": "widely-patent-fontanelles-and-sutures",
        "name": "Widely patent fontanelles and sutures",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/widely-patent-fontanelles-and-sutures"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}