{
  "url": "https://dantelabs.com/tr/genes/akr1d1",
  "gene": {
    "slug": "akr1d1",
    "symbol": "AKR1D1",
    "name": "aldo-keto reductase family 1 member D1",
    "hgnc": "HGNC:388",
    "summary": null,
    "location": "7q33",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "SRD5B1"
    ],
    "ensemblId": "ENSG00000122787",
    "entrezId": 6718,
    "omim": [
      "604741"
    ],
    "uniprot": [
      "P51857"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 138076459,
      "end": 138118305,
      "strand": "+",
      "ensemblTranscript": "ENST00000242375.8",
      "refseqTranscript": "NM_005989.4",
      "ensemblProtein": "ENSP00000242375.3",
      "refseqProtein": "NP_005980.1",
      "exons": [
        {
          "start": 138076459,
          "end": 138076611
        },
        {
          "start": 138088601,
          "end": 138088768
        },
        {
          "start": 138091768,
          "end": 138091884
        },
        {
          "start": 138097866,
          "end": 138097943
        },
        {
          "start": 138105307,
          "end": 138105429
        },
        {
          "start": 138106608,
          "end": 138106717
        },
        {
          "start": 138107415,
          "end": 138107580
        },
        {
          "start": 138113690,
          "end": 138113772
        },
        {
          "start": 138116620,
          "end": 138118305
        }
      ],
      "cds": {
        "start": 138076519,
        "end": 138116662
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 137687070,
      "end": 137802732,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 137597382,
      "end": 138597381,
      "genes": [
        {
          "symbol": "DGKI",
          "ensemblId": "ENSG00000157680",
          "biotype": "protein_coding",
          "start": 137381037,
          "end": 137847092,
          "strand": "-",
          "slug": "dgki"
        },
        {
          "symbol": "CREB3L2",
          "ensemblId": "ENSG00000182158",
          "biotype": "protein_coding",
          "start": 137874979,
          "end": 138002119,
          "strand": "-",
          "slug": "creb3l2"
        },
        {
          "symbol": "TRIM24",
          "ensemblId": "ENSG00000122779",
          "biotype": "protein_coding",
          "start": 138460193,
          "end": 138590023,
          "strand": "+",
          "slug": "trim24"
        },
        {
          "symbol": "SVOPL",
          "ensemblId": "ENSG00000157703",
          "biotype": "protein_coding",
          "start": 138594285,
          "end": 138701382,
          "strand": "-",
          "slug": "svopl"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-bile-acid-synthesis-defect-2-akr1d1",
        "name": "Konjenital Safra Asidi Sentez Bozukluğu 2",
        "diseases": [
          {
            "mondoId": "MONDO:0009339",
            "name": "Konjenital Safra Asidi Sentez Bozukluğu 2",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "AKR1D1 geninin iki kopyasındaki değişikliklerden kaynaklanır; bu gen delta-4-3-oksosteroid 5-beta-redüktaz enzimini üretir. Bu enzim olmadığında normal safra asitleri üretilemez ve karaciğeri zedeleyen anormal safra asitleri birikir.",
            "management": "Ağızdan alınan kenodeoksikolik asit, eksik olan safra asitlerinin yerini alır. Erken başlandığında sarılığı, karaciğer fonksiyonlarını ve karaciğer boyutunu iyileştirebilir. Yağda çözünen vitamin düzeyleri ve karaciğer fonksiyonları izlenir. Genetik danışmanlık önerilir ve akrabalar için taşıyıcılık testi yapılabilir.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/congenital-bile-acid-synthesis-defect-2-akr1d1"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-enzyme-concentration-or-activity",
        "name": "Abnormal circulating enzyme concentration or activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-enzyme-concentration-or-activity"
      },
      {
        "slug": "abnormal-intrahepatic-bile-duct-morphology",
        "name": "Abnormal intrahepatic bile duct morphology",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-intrahepatic-bile-duct-morphology"
      },
      {
        "slug": "abnormal-serum-bile-acid-concentration",
        "name": "Abnormal serum bile acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-serum-bile-acid-concentration"
      },
      {
        "slug": "abnormality-of-the-coagulation-cascade",
        "name": "Abnormality of the coagulation cascade",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-coagulation-cascade"
      },
      {
        "slug": "conjugated-hyperbilirubinemia",
        "name": "Conjugated hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/conjugated-hyperbilirubinemia"
      },
      {
        "slug": "renal-cyst",
        "name": "Cystic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-cyst"
      },
      {
        "slug": "dark-urine",
        "name": "Dark urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dark-urine"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "extramedullary-hematopoiesis",
        "name": "Extramedullary hematopoiesis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/extramedullary-hematopoiesis"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "steatorrhea",
        "name": "Fat in feces",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/steatorrhea"
      },
      {
        "slug": "fat-malabsorption",
        "name": "Fat malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fat-malabsorption"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "giant-cell-hepatitis",
        "name": "Giant cell hepatitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/giant-cell-hepatitis"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hyperbilirubinemia",
        "name": "High blood bilirubin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperbilirubinemia"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "intrahepatic-cholestasis",
        "name": "Impaired release of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/intrahepatic-cholestasis"
      },
      {
        "slug": "increased-circulating-lactate-dehydrogenase-concentration",
        "name": "Increased circulating lactate dehydrogenase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-dehydrogenase-concentration"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "prolonged-partial-thromboplastin-time",
        "name": "Prolonged partial thromboplastin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "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": "frequent",
        "url": "https://dantelabs.com/traits/prolonged-prothrombin-time"
      },
      {
        "slug": "prolonged-neonatal-jaundice",
        "name": "Prolonged yellowing of skin in newborn",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice"
      },
      {
        "slug": "cholestasis",
        "name": "Slowed or blocked flow of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cholestasis"
      },
      {
        "slug": "decreased-circulating-vitamin-e-concentration",
        "name": "Vitamin E deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-vitamin-e-concentration"
      },
      {
        "slug": "rickets",
        "name": "Weak and soft bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rickets"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}