{
  "url": "https://dantelabs.com/sv/genes/lman1",
  "gene": {
    "slug": "lman1",
    "symbol": "LMAN1",
    "name": "lectin, mannose binding 1",
    "hgnc": "HGNC:6631",
    "summary": null,
    "location": "18q21.32",
    "locusType": "gene with protein product",
    "aliases": [
      "MR60",
      "ERGIC-53",
      "ERGIC53",
      "gp58",
      "MCFD1",
      "FMFD1"
    ],
    "previousSymbols": [
      "F5F8D"
    ],
    "ensemblId": "ENSG00000074695",
    "entrezId": 3998,
    "omim": [
      "601567"
    ],
    "uniprot": [
      "P49257"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "18",
      "start": 59327823,
      "end": 59359265,
      "strand": "-",
      "ensemblTranscript": "ENST00000251047.6",
      "refseqTranscript": "NM_005570.4",
      "ensemblProtein": "ENSP00000251047.4",
      "refseqProtein": "NP_005561.1",
      "exons": [
        {
          "start": 59327823,
          "end": 59331129
        },
        {
          "start": 59331418,
          "end": 59331539
        },
        {
          "start": 59333091,
          "end": 59333244
        },
        {
          "start": 59338557,
          "end": 59338627
        },
        {
          "start": 59338760,
          "end": 59338953
        },
        {
          "start": 59345919,
          "end": 59346051
        },
        {
          "start": 59347513,
          "end": 59347571
        },
        {
          "start": 59349113,
          "end": 59349236
        },
        {
          "start": 59353202,
          "end": 59353301
        },
        {
          "start": 59354519,
          "end": 59354580
        },
        {
          "start": 59355313,
          "end": 59355420
        },
        {
          "start": 59355504,
          "end": 59355658
        },
        {
          "start": 59359031,
          "end": 59359265
        }
      ],
      "cds": {
        "start": 59331093,
        "end": 59359244
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "18",
      "start": 56995055,
      "end": 57027194,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 58843544,
      "end": 59843543,
      "genes": [
        {
          "symbol": "ZNF532",
          "ensemblId": "ENSG00000074657",
          "biotype": "protein_coding",
          "start": 58862600,
          "end": 58986480,
          "strand": "+",
          "slug": "znf532"
        },
        {
          "symbol": "SEC11C",
          "ensemblId": "ENSG00000166562",
          "biotype": "protein_coding",
          "start": 59139470,
          "end": 59158850,
          "strand": "+",
          "slug": "sec11c"
        },
        {
          "symbol": "GRP",
          "ensemblId": "ENSG00000134443",
          "biotype": "protein_coding",
          "start": 59219984,
          "end": 59230790,
          "strand": "+",
          "slug": "grp"
        },
        {
          "symbol": "RAX",
          "ensemblId": "ENSG00000134438",
          "biotype": "protein_coding",
          "start": 59267035,
          "end": 59274086,
          "strand": "-",
          "slug": "rax"
        },
        {
          "symbol": "CPLX4",
          "ensemblId": "ENSG00000166569",
          "biotype": "protein_coding",
          "start": 59275156,
          "end": 59318655,
          "strand": "-",
          "slug": "cplx4"
        },
        {
          "symbol": "CCBE1",
          "ensemblId": "ENSG00000183287",
          "biotype": "protein_coding",
          "start": 59430939,
          "end": 59698154,
          "strand": "-",
          "slug": "ccbe1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "rare-inherited-coagulation-factor-deficiencies",
        "name": "Sällsynta ärftliga brister i koagulationsfaktorer",
        "diseases": [
          {
            "mondoId": "MONDO:0018175",
            "name": "Kombinerad brist på faktor V och faktor VIII",
            "genes": 2,
            "inheritance": "autosomal-recessive",
            "description": "Lindrig till måttlig blödning orsakad av nedsatta nivåer av både faktor V och faktor VIII, på grund av förändringar i LMAN1 eller MCFD2, som hjälper till att transportera dessa faktorer ut ur de celler som tillverkar dem.",
            "management": "Om du känner till det kan behandlingen planeras inför operation, tandvård och förlossning.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/rare-inherited-coagulation-factor-deficiencies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "menorrhagia",
        "name": "Abnormally heavy bleeding during menstruation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/menorrhagia"
      },
      {
        "slug": "gingival-bleeding",
        "name": "Bleeding gums",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gingival-bleeding"
      },
      {
        "slug": "abnormal-bleeding",
        "name": "Bleeding tendency",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/abnormal-bleeding"
      },
      {
        "slug": "bleeding-with-minor-or-no-trauma",
        "name": "Bleeding with minor or no trauma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bleeding-with-minor-or-no-trauma"
      },
      {
        "slug": "joint-hemorrhage",
        "name": "Bleeding within a joint",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-hemorrhage"
      },
      {
        "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"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intracranial-hemorrhage"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "epistaxis",
        "name": "Bloody nose",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epistaxis"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "hyperlipidemia",
        "name": "Elevated lipids in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hyperlipidemia"
      },
      {
        "slug": "gastrointestinal-hemorrhage",
        "name": "Gastrointestinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage"
      },
      {
        "slug": "hyperuricemia",
        "name": "High blood uric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hyperuricemia"
      },
      {
        "slug": "prolonged-bleeding-after-dental-extraction",
        "name": "Prolonged bleeding after dental extraction",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prolonged-bleeding-after-dental-extraction"
      },
      {
        "slug": "prolonged-bleeding-after-surgery",
        "name": "Prolonged bleeding after surgery",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-bleeding-after-surgery"
      },
      {
        "slug": "prolonged-bleeding-following-circumcision",
        "name": "Prolonged bleeding following circumcision",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prolonged-bleeding-following-circumcision"
      },
      {
        "slug": "prolonged-partial-thromboplastin-time",
        "name": "Prolonged partial thromboplastin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/prolonged-partial-thromboplastin-time"
      },
      {
        "slug": "prolonged-prothrombin-time",
        "name": "Prolonged prothrombin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/prolonged-prothrombin-time"
      },
      {
        "slug": "reduced-coagulation-factor-v-activity",
        "name": "Reduced coagulation factor V activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-coagulation-factor-v-activity"
      },
      {
        "slug": "reduced-factor-viii-activity",
        "name": "Reduced factor VIII activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-factor-viii-activity"
      }
    ],
    "related": [
      {
        "slug": "mcfd2",
        "symbol": "MCFD2",
        "name": "multiple coagulation factor deficiency 2, ER cargo receptor complex subunit",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/mcfd2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}