{
  "url": "https://dantelabs.com/hu/genes/kdsr",
  "gene": {
    "slug": "kdsr",
    "symbol": "KDSR",
    "name": "3-ketodihydrosphingosine reductase",
    "hgnc": "HGNC:4021",
    "summary": null,
    "location": "18q21.33",
    "locusType": "gene with protein product",
    "aliases": [
      "DHSR",
      "SDR35C1"
    ],
    "previousSymbols": [
      "FVT1"
    ],
    "ensemblId": "ENSG00000119537",
    "entrezId": 2531,
    "omim": [
      "136440"
    ],
    "uniprot": [
      "Q06136"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "18",
      "start": 63327726,
      "end": 63367206,
      "strand": "-",
      "ensemblTranscript": "ENST00000645214.2",
      "refseqTranscript": "NM_002035.4",
      "ensemblProtein": "ENSP00000494352.1",
      "refseqProtein": "NP_002026.1",
      "exons": [
        {
          "start": 63327726,
          "end": 63331901
        },
        {
          "start": 63335257,
          "end": 63335358
        },
        {
          "start": 63338800,
          "end": 63338883
        },
        {
          "start": 63344410,
          "end": 63344493
        },
        {
          "start": 63350888,
          "end": 63351079
        },
        {
          "start": 63355204,
          "end": 63355299
        },
        {
          "start": 63355498,
          "end": 63355563
        },
        {
          "start": 63359736,
          "end": 63359792
        },
        {
          "start": 63362779,
          "end": 63362868
        },
        {
          "start": 63367011,
          "end": 63367206
        }
      ],
      "cds": {
        "start": 63331782,
        "end": 63367118
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "18",
      "start": 60994959,
      "end": 61034743,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 62847466,
      "end": 63847465,
      "genes": [
        {
          "symbol": "PHLPP1",
          "ensemblId": "ENSG00000081913",
          "biotype": "protein_coding",
          "start": 62715424,
          "end": 62980433,
          "strand": "+",
          "slug": "phlpp1"
        },
        {
          "symbol": "BCL2",
          "ensemblId": "ENSG00000171791",
          "biotype": "protein_coding",
          "start": 63123346,
          "end": 63320215,
          "strand": "-",
          "slug": "bcl2"
        },
        {
          "symbol": "VPS4B",
          "ensemblId": "ENSG00000119541",
          "biotype": "protein_coding",
          "start": 63389119,
          "end": 63422521,
          "strand": "-",
          "slug": "vps4b"
        },
        {
          "symbol": "SERPINB5",
          "ensemblId": "ENSG00000206075",
          "biotype": "protein_coding",
          "start": 63476817,
          "end": 63505085,
          "strand": "+",
          "slug": "serpinb5"
        },
        {
          "symbol": "SERPINB12",
          "ensemblId": "ENSG00000166634",
          "biotype": "protein_coding",
          "start": 63542369,
          "end": 63569329,
          "strand": "+",
          "slug": "serpinb12"
        },
        {
          "symbol": "SERPINB13",
          "ensemblId": "ENSG00000197641",
          "biotype": "protein_coding",
          "start": 63586654,
          "end": 63604639,
          "strand": "+",
          "slug": "serpinb13"
        },
        {
          "symbol": "SERPINB4",
          "ensemblId": "ENSG00000206073",
          "biotype": "protein_coding",
          "start": 63637259,
          "end": 63644263,
          "strand": "-",
          "slug": "serpinb4"
        },
        {
          "symbol": "SERPINB11",
          "ensemblId": "ENSG00000206072",
          "biotype": "protein_coding",
          "start": 63647579,
          "end": 63726432,
          "strand": "+",
          "slug": "serpinb11"
        },
        {
          "symbol": "SERPINB3",
          "ensemblId": "ENSG00000057149",
          "biotype": "protein_coding",
          "start": 63652584,
          "end": 63661893,
          "strand": "-",
          "slug": "serpinb3"
        },
        {
          "symbol": "SERPINB7",
          "ensemblId": "ENSG00000166396",
          "biotype": "protein_coding",
          "start": 63752935,
          "end": 63805376,
          "strand": "+",
          "slug": "serpinb7"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-palmoplantar-keratodermas",
        "name": "Hereditary Palmoplantar Keratodermas and Pachyonychia Congenita",
        "diseases": [
          {
            "mondoId": "MONDO:0019272",
            "name": "Hereditary palmoplantar keratoderma",
            "genes": 35,
            "inheritance": null,
            "description": "Inherited thickening of the palms and soles, including pachyonychia congenita, mal de Meleda, Nagashima-type and Bothnian keratodermas, keratitis-ichthyosis-deafness syndrome, and the CTSC-related Papillon-Lefèvre and Haim-Munk syndromes.",
            "management": "Diagnosis guides foot care and pain management; for CTSC-related forms early dental treatment protects the teeth, and GJB2-related forms warrant a hearing check.",
            "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/hu/conditions/hereditary-palmoplantar-keratodermas"
      },
      {
        "slug": "inherited-thrombocytopenias",
        "name": "Inherited Thrombocytopenias",
        "diseases": [
          {
            "mondoId": "MONDO:0100241",
            "name": "Inherited Thrombocytopenia",
            "genes": 33,
            "inheritance": null,
            "description": "A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.",
            "management": "A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.",
            "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/hu/conditions/inherited-thrombocytopenias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-blistering-of-the-skin",
        "name": "Abnormal blistering of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin"
      },
      {
        "slug": "abnormal-cardiovascular-system-morphology",
        "name": "Abnormal cardiovascular system morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology"
      },
      {
        "slug": "abnormal-hair-morphology",
        "name": "Abnormality of the hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-hair-morphology"
      },
      {
        "slug": "abnormal-nail-morphology",
        "name": "Abnormality of the nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-nail-morphology"
      },
      {
        "slug": "abnormal-testis-morphology",
        "name": "Abnormality of the testis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-testis-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "congenital-nonbullous-ichthyosiform-erythroderma",
        "name": "Congenital nonbullous ichthyosiform erythroderma",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-nonbullous-ichthyosiform-erythroderma"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "generalized-hirsutism",
        "name": "Excessive hairiness over body",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-hirsutism"
      },
      {
        "slug": "macule",
        "name": "Flat, discolored area of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macule"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "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": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "hypermelanotic-macule",
        "name": "Hyperpigmented skin patches",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypermelanotic-macule"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "irregular-hyperpigmentation",
        "name": "Irregular hyperpigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irregular-hyperpigmentation"
      },
      {
        "slug": "patchy-palmoplantar-hyperkeratosis",
        "name": "Patchy palmoplantar hyperkeratosis",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/patchy-palmoplantar-hyperkeratosis"
      },
      {
        "slug": "cutaneous-photosensitivity",
        "name": "Photosensitive skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cutaneous-photosensitivity"
      },
      {
        "slug": "protruding-ear",
        "name": "Prominent ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/protruding-ear"
      },
      {
        "slug": "erythema",
        "name": "Redness of skin or mucous membrane",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/erythema"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "neoplasm-of-the-skin",
        "name": "Skin cancer",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-skin"
      },
      {
        "slug": "skin-plaque",
        "name": "Skin plaque",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skin-plaque"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "tapered-finger",
        "name": "Tapered finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tapered-finger"
      },
      {
        "slug": "palmoplantar-keratoderma",
        "name": "Thickening of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/palmoplantar-keratoderma"
      },
      {
        "slug": "palmoplantar-hyperkeratosis",
        "name": "Thickening of the outer layer of the skin of the palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/palmoplantar-hyperkeratosis"
      },
      {
        "slug": "epidermal-acanthosis",
        "name": "Thickening of upper layer of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/epidermal-acanthosis"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "aagab",
        "symbol": "AAGAB",
        "name": "alpha and gamma adaptin binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aagab"
      },
      {
        "slug": "actb",
        "symbol": "ACTB",
        "name": "actin beta",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/actb"
      },
      {
        "slug": "actn1",
        "symbol": "ACTN1",
        "name": "actinin alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/actn1"
      },
      {
        "slug": "adamts13",
        "symbol": "ADAMTS13",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 13",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/adamts13"
      },
      {
        "slug": "ankrd26",
        "symbol": "ANKRD26",
        "name": "ankyrin repeat domain 26",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ankrd26"
      },
      {
        "slug": "ap1b1",
        "symbol": "AP1B1",
        "name": "adaptor related protein complex 1 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ap1b1"
      },
      {
        "slug": "aqp5",
        "symbol": "AQP5",
        "name": "aquaporin 5",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aqp5"
      },
      {
        "slug": "arpc1b",
        "symbol": "ARPC1B",
        "name": "actin related protein 2/3 complex subunit 1B",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/arpc1b"
      },
      {
        "slug": "cdc42",
        "symbol": "CDC42",
        "name": "cell division cycle 42",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cdc42"
      },
      {
        "slug": "ctsc",
        "symbol": "CTSC",
        "name": "cathepsin C",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ctsc"
      },
      {
        "slug": "cycs",
        "symbol": "CYCS",
        "name": "cytochrome c, somatic",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cycs"
      },
      {
        "slug": "diaph1",
        "symbol": "DIAPH1",
        "name": "diaphanous related formin 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/diaph1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}