{
  "url": "https://dantelabs.com/no/genes/xiap",
  "gene": {
    "slug": "xiap",
    "symbol": "XIAP",
    "name": "X-linked inhibitor of apoptosis",
    "hgnc": "HGNC:592",
    "summary": null,
    "location": "Xq25",
    "locusType": "gene with protein product",
    "aliases": [
      "hILP",
      "ILP-1"
    ],
    "previousSymbols": [
      "API3",
      "BIRC4"
    ],
    "ensemblId": "ENSG00000101966",
    "entrezId": 331,
    "omim": [
      "300079"
    ],
    "uniprot": [
      "P98170"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 123860053,
      "end": 123913972,
      "strand": "+",
      "ensemblTranscript": "ENST00000371199.8",
      "refseqTranscript": "NM_001167.4",
      "ensemblProtein": "ENSP00000360242.3",
      "refseqProtein": "NP_001158.2",
      "exons": [
        {
          "start": 123860053,
          "end": 123860293
        },
        {
          "start": 123885631,
          "end": 123886539
        },
        {
          "start": 123888619,
          "end": 123888718
        },
        {
          "start": 123891238,
          "end": 123891316
        },
        {
          "start": 123892731,
          "end": 123892773
        },
        {
          "start": 123900493,
          "end": 123900693
        },
        {
          "start": 123906988,
          "end": 123913972
        }
      ],
      "cds": {
        "start": 123885663,
        "end": 123907181
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 122993574,
      "end": 123047829,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 123387013,
      "end": 124387012,
      "genes": [
        {
          "symbol": "GRIA3",
          "ensemblId": "ENSG00000125675",
          "biotype": "protein_coding",
          "start": 123184023,
          "end": 123490915,
          "strand": "+",
          "slug": "gria3"
        },
        {
          "symbol": "THOC2",
          "ensemblId": "ENSG00000125676",
          "biotype": "protein_coding",
          "start": 123600561,
          "end": 123733061,
          "strand": "-",
          "slug": "thoc2"
        },
        {
          "symbol": "STAG2",
          "ensemblId": "ENSG00000101972",
          "biotype": "protein_coding",
          "start": 123960212,
          "end": 124422664,
          "strand": "+",
          "slug": "stag2"
        },
        {
          "symbol": "SH2D1A",
          "ensemblId": "ENSG00000183918",
          "biotype": "protein_coding",
          "start": 124227868,
          "end": 124373197,
          "strand": "+",
          "slug": "sh2d1a"
        },
        {
          "symbol": "TEX13D",
          "ensemblId": "ENSG00000282419",
          "biotype": "protein_coding",
          "start": 124246249,
          "end": 124336863,
          "strand": "+",
          "slug": "tex13d"
        },
        {
          "symbol": "TENM1",
          "ensemblId": "ENSG00000009694",
          "biotype": "protein_coding",
          "start": 124375903,
          "end": 125204312,
          "strand": "-",
          "slug": "tenm1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "x-linked-lymphoproliferative-disease",
        "name": "X-koblet lymfoproliferativ sykdom og XMEN",
        "diseases": [
          {
            "mondoId": "MONDO:0010627",
            "name": "X-koblet lymfoproliferativ sykdom",
            "genes": 2,
            "inheritance": "x-linked-recessive",
            "description": "Alvorlig EBV-infeksjon, HLH, lave antistoffnivåer og økt lymfomrisiko forårsaket av endringer i SH2D1A (XLP1) eller XIAP (XLP2).",
            "management": "Stamcelletransplantasjon kan være kurativ ved XLP1. Diagnosen veileder også behandling av HLH, erstatningsbehandling med immunglobuliner og testing av slektninger.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/x-linked-lymphoproliferative-disease"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Andre medfødte immunsviktsykdommer",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Medfødt immunsviktsykdom",
            "genes": 114,
            "inheritance": null,
            "description": "Arvelige sykdommer i immunsystemet forårsaket av endringer i enkeltgener, som påvirker hvordan kroppen bekjemper infeksjoner eller regulerer betennelse.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": true
          },
          {
            "mondoId": "MONDO:0021094",
            "name": "Immunsviktsykdom",
            "genes": 170,
            "inheritance": null,
            "description": "Sykdom der det finnes en mangel eller defekt i immunforsvarsmekanismene, enten cellulære eller humorale.",
            "management": "HSCT ved SCID og alvorlige PID; immunglobulinerstatning (IVIG/SCIG) ved antistoffmangel; leniolisib (Joenja, FDA 2023) ved APDS; genterapi ved ADA-SCID; abatacept ved CTLA4- og LRBA-mangel; profylaktiske antibiotika; G-CSF ved CGD",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/no/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-natural-killer-cell-physiology",
        "name": "Abnormal natural killer cell physiology",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-natural-killer-cell-physiology"
      },
      {
        "slug": "acne",
        "name": "Acne",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/acne"
      },
      {
        "slug": "aplastic-anemia",
        "name": "Aplastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/aplastic-anemia"
      },
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "cholangitis",
        "name": "Bile duct inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cholangitis"
      },
      {
        "slug": "infectious-encephalitis",
        "name": "Brain inflammation",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/infectious-encephalitis"
      },
      {
        "slug": "burkitt-lymphoma",
        "name": "Burkitt lymphoma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/burkitt-lymphoma"
      },
      {
        "slug": "lymphoma",
        "name": "Cancer of lymphatic system",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lymphoma"
      },
      {
        "slug": "colitis",
        "name": "Colitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/colitis"
      },
      {
        "slug": "crohn-s-disease",
        "name": "Crohn's disease",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/crohn-s-disease"
      },
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "decreased-circulating-igg-concentration",
        "name": "Decreased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "elevated-circulating-c-reactive-protein-concentration",
        "name": "Elevated circulating C-reactive protein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-c-reactive-protein-concentration"
      },
      {
        "slug": "increased-circulating-ferritin-concentration",
        "name": "Elevated serum ferritin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-ferritin-concentration"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "recurrent-fever",
        "name": "Episodic fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "erythema-nodosum",
        "name": "Erythema nodosum",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/erythema-nodosum"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "folliculitis",
        "name": "Folliculitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/folliculitis"
      },
      {
        "slug": "fulminant-hepatitis",
        "name": "Fulminant hepatitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fulminant-hepatitis"
      },
      {
        "slug": "hemophagocytosis",
        "name": "Hemophagocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hemophagocytosis"
      },
      {
        "slug": "hepatic-encephalopathy",
        "name": "Hepatic encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hepatic-encephalopathy"
      },
      {
        "slug": "increased-total-lymphocyte-count",
        "name": "High lymphocyte count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/increased-total-lymphocyte-count"
      },
      {
        "slug": "hypofibrinogenemia",
        "name": "Hypofibrinogenemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypofibrinogenemia"
      },
      {
        "slug": "increased-circulating-igm-concentration",
        "name": "Increased circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/increased-circulating-igm-concentration"
      },
      {
        "slug": "hypertriglyceridemia",
        "name": "Increased plasma triglycerides",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertriglyceridemia"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "vasculitis",
        "name": "Inflammation of blood vessel",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/vasculitis"
      },
      {
        "slug": "inflammation-of-the-large-intestine",
        "name": "Inflammation of the large intestine",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inflammation-of-the-large-intestine"
      },
      {
        "slug": "jejunoileal-ulceration",
        "name": "Jejunoileal ulceration",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/jejunoileal-ulceration"
      },
      {
        "slug": "nephritis",
        "name": "Kidney inflammation",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephritis"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "hepatitis",
        "name": "Liver inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatitis"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "meningitis",
        "name": "Meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/meningitis"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-skin-infections",
        "name": "Recurrent skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/recurrent-skin-infections"
      },
      {
        "slug": "recurrent-pharyngitis",
        "name": "Recurrent sore throat",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-pharyngitis"
      },
      {
        "slug": "reduced-total-natural-killer-cell-count",
        "name": "Reduced total natural killer cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-total-natural-killer-cell-count"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "severe-epstein-barr-virus-infection",
        "name": "Severe Epstein Barr virus infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/severe-epstein-barr-virus-infection"
      },
      {
        "slug": "cutaneous-abscess",
        "name": "Skin abscess",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cutaneous-abscess"
      },
      {
        "slug": "splenic-hemophagocytosis",
        "name": "Splenic hemophagocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/splenic-hemophagocytosis"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "uveitis",
        "name": "Uveitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/uveitis"
      }
    ],
    "related": [
      {
        "slug": "sh2d1a",
        "symbol": "SH2D1A",
        "name": "SH2 domain containing 1A",
        "shared": 3,
        "url": "https://dantelabs.com/no/genes/sh2d1a"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/aicda"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/blnk"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/btk"
      },
      {
        "slug": "c1qa",
        "symbol": "C1QA",
        "name": "complement C1q A chain",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/c1qa"
      },
      {
        "slug": "c1qb",
        "symbol": "C1QB",
        "name": "complement C1q B chain",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/c1qb"
      },
      {
        "slug": "c1qc",
        "symbol": "C1QC",
        "name": "complement C1q C chain",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/c1qc"
      },
      {
        "slug": "c1s",
        "symbol": "C1S",
        "name": "complement C1s",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/c1s"
      },
      {
        "slug": "c2",
        "symbol": "C2",
        "name": "complement C2",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/c2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}