{
  "url": "https://dantelabs.com/et/genes/acvr1",
  "gene": {
    "slug": "acvr1",
    "symbol": "ACVR1",
    "name": "activin A receptor type 1",
    "hgnc": "HGNC:171",
    "summary": null,
    "location": "2q24.1",
    "locusType": "gene with protein product",
    "aliases": [
      "SKR1",
      "ALK2",
      "ACVR1A"
    ],
    "previousSymbols": [
      "ACVRLK2"
    ],
    "ensemblId": "ENSG00000115170",
    "entrezId": 90,
    "omim": [
      "102576"
    ],
    "uniprot": [
      "Q04771"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 157736446,
      "end": 157876330,
      "strand": "-",
      "ensemblTranscript": "ENST00000434821.7",
      "refseqTranscript": "NM_001111067.4",
      "ensemblProtein": "ENSP00000405004.1",
      "refseqProtein": "NP_001104537.1",
      "exons": [
        {
          "start": 157736446,
          "end": 157737665
        },
        {
          "start": 157738440,
          "end": 157738570
        },
        {
          "start": 157760880,
          "end": 157761077
        },
        {
          "start": 157765921,
          "end": 157766196
        },
        {
          "start": 157770368,
          "end": 157770514
        },
        {
          "start": 157774088,
          "end": 157774187
        },
        {
          "start": 157778131,
          "end": 157778342
        },
        {
          "start": 157780337,
          "end": 157780600
        },
        {
          "start": 157799427,
          "end": 157799500
        },
        {
          "start": 157818385,
          "end": 157818559
        },
        {
          "start": 157875796,
          "end": 157876330
        }
      ],
      "cds": {
        "start": 157737531,
        "end": 157799493
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 158592958,
      "end": 158732374,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 157306388,
      "end": 158306387,
      "genes": [
        {
          "symbol": "GALNT5",
          "ensemblId": "ENSG00000136542",
          "biotype": "protein_coding",
          "start": 157257497,
          "end": 157318491,
          "strand": "+",
          "slug": "galnt5"
        },
        {
          "symbol": "ERMN",
          "ensemblId": "ENSG00000136541",
          "biotype": "protein_coding",
          "start": 157318614,
          "end": 157327719,
          "strand": "-",
          "slug": "ermn"
        },
        {
          "symbol": "CYTIP",
          "ensemblId": "ENSG00000115165",
          "biotype": "protein_coding",
          "start": 157409360,
          "end": 157491093,
          "strand": "-",
          "slug": "cytip"
        },
        {
          "symbol": "ACVR1C",
          "ensemblId": "ENSG00000123612",
          "biotype": "protein_coding",
          "start": 157526767,
          "end": 157628896,
          "strand": "-",
          "slug": "acvr1c"
        },
        {
          "symbol": "UPP2",
          "ensemblId": "ENSG00000007001",
          "biotype": "protein_coding",
          "start": 157876557,
          "end": 158136154,
          "strand": "+",
          "slug": "upp2"
        },
        {
          "symbol": "CCDC148",
          "ensemblId": "ENSG00000153237",
          "biotype": "protein_coding",
          "start": 158170150,
          "end": 158456776,
          "strand": "-",
          "slug": "ccdc148"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "fibrodysplasia-ossificans-progressiva",
        "name": "Progresseeruv fibrodysplaasia ossificans",
        "diseases": [
          {
            "mondoId": "MONDO:0007606",
            "name": "Progresseeruv fibrodysplaasia ossificans",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "ACVR1 geeni häire, mille korral lihased ja sidekude progresseeruvalt muutuvad luuks; tavaliselt sünnivad patsiendid kaasasündinud väärarenguga suurte varvastega ning enamik juhtudest tekib uute variantide tõttu.",
            "management": "Biopsiatest, intramuskulaarsetest süstidest ja valikulistest operatsioonidest hoidumine väldib haiguse ägenemisi. Teatud riikides on heaks kiidetud sihtravi (palovaroteen).",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/fibrodysplasia-ossificans-progressiva"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hip-dysplasia",
        "name": "Abnormal formation of the hip",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hip-dysplasia"
      },
      {
        "slug": "abnormal-femoral-neck-morphology",
        "name": "Abnormal neck of thigh bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-femoral-neck-morphology"
      },
      {
        "slug": "abnormal-vertebral-morphology",
        "name": "Abnormal vertebral morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-vertebral-morphology"
      },
      {
        "slug": "abnormality-of-the-first-metatarsal-bone",
        "name": "Abnormality of the 1st long bone of foot",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-first-metatarsal-bone"
      },
      {
        "slug": "abnormal-hallux-morphology",
        "name": "Abnormality of the big toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-hallux-morphology"
      },
      {
        "slug": "abnormal-thumb-morphology",
        "name": "Abnormality of the thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-thumb-morphology"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-phalanges-of-the-hallux",
        "name": "Absent/small big toe bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-phalanges-of-the-hallux"
      },
      {
        "slug": "basal-ganglia-calcification",
        "name": "Basal ganglia calcification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/basal-ganglia-calcification"
      },
      {
        "slug": "deep-venous-thrombosis",
        "name": "Blood clot in a deep vein",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/deep-venous-thrombosis"
      },
      {
        "slug": "broad-femoral-neck",
        "name": "Broad femoral neck",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/broad-femoral-neck"
      },
      {
        "slug": "metaphyseal-widening",
        "name": "Broad wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-widening"
      },
      {
        "slug": "hallux-valgus",
        "name": "Bunion",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hallux-valgus"
      },
      {
        "slug": "ectopic-ossification-in-muscle-tissue",
        "name": "Calcification of muscle tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ectopic-ossification-in-muscle-tissue"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "clinodactyly",
        "name": "Curvature of digit",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clinodactyly"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-toe-phalanx-ossification",
        "name": "Delayed toe phalanx ossification",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-toe-phalanx-ossification"
      },
      {
        "slug": "ectopic-ossification",
        "name": "Ectopic ossification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ectopic-ossification"
      },
      {
        "slug": "ectopic-ossification-in-ligament-tissue",
        "name": "Ectopic ossification in ligament tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ectopic-ossification-in-ligament-tissue"
      },
      {
        "slug": "ectopic-ossification-in-tendon-tissue",
        "name": "Ectopic ossification in tendon tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/ectopic-ossification-in-tendon-tissue"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "enchondroma",
        "name": "Enchondroma",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/enchondroma"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "subcutaneous-nodule",
        "name": "Firm lump under the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/subcutaneous-nodule"
      },
      {
        "slug": "fused-cervical-vertebrae",
        "name": "Fused neck",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fused-cervical-vertebrae"
      },
      {
        "slug": "synostosis-of-joints",
        "name": "Fusion of joints",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/synostosis-of-joints"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "hamartoma",
        "name": "Hamartoma",
        "systems": [
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/hamartoma"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hip-pain",
        "name": "Hip pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hip-pain"
      },
      {
        "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": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "limitation-of-joint-mobility",
        "name": "Limitation of joint mobility",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/limitation-of-joint-mobility"
      },
      {
        "slug": "limitation-of-neck-motion",
        "name": "Limitation of neck motion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/limitation-of-neck-motion"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "osteochondroma",
        "name": "Osteochondroma",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/osteochondroma"
      },
      {
        "slug": "progressive-cervical-vertebral-spine-fusion",
        "name": "Progressive cervical vertebral spine fusion",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-cervical-vertebral-spine-fusion"
      },
      {
        "slug": "spinal-rigidity",
        "name": "Reduced spine movement",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spinal-rigidity"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-hallux",
        "name": "Short big toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-hallux"
      },
      {
        "slug": "short-1st-metacarpal",
        "name": "Shortened 1st long bone of hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-1st-metacarpal"
      },
      {
        "slug": "small-cervical-vertebral-bodies",
        "name": "Small cervical vertebral bodies",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/small-cervical-vertebral-bodies"
      },
      {
        "slug": "lymphedema",
        "name": "Swelling caused by excess lymph fluid under skin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lymphedema"
      },
      {
        "slug": "widely-spaced-teeth",
        "name": "Widely spaced teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/widely-spaced-teeth"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}