{
  "url": "https://dantelabs.com/es/genes/aldh1a3",
  "gene": {
    "slug": "aldh1a3",
    "symbol": "ALDH1A3",
    "name": "aldehyde dehydrogenase 1 family member A3",
    "hgnc": "HGNC:409",
    "summary": null,
    "location": "15q26.3",
    "locusType": "gene with protein product",
    "aliases": [
      "RALDH3"
    ],
    "previousSymbols": [
      "ALDH6"
    ],
    "ensemblId": "ENSG00000184254",
    "entrezId": 220,
    "omim": [
      "600463"
    ],
    "uniprot": [
      "P47895"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 100879831,
      "end": 100916626,
      "strand": "+",
      "ensemblTranscript": "ENST00000329841.10",
      "refseqTranscript": "NM_000693.4",
      "ensemblProtein": "ENSP00000332256.5",
      "refseqProtein": "NP_000684.2",
      "exons": [
        {
          "start": 100879831,
          "end": 100880006
        },
        {
          "start": 100885267,
          "end": 100885371
        },
        {
          "start": 100887572,
          "end": 100887712
        },
        {
          "start": 100892510,
          "end": 100892639
        },
        {
          "start": 100892945,
          "end": 100893006
        },
        {
          "start": 100893954,
          "end": 100894082
        },
        {
          "start": 100895933,
          "end": 100896046
        },
        {
          "start": 100898083,
          "end": 100898185
        },
        {
          "start": 100900575,
          "end": 100900759
        },
        {
          "start": 100905523,
          "end": 100905687
        },
        {
          "start": 100907121,
          "end": 100907278
        },
        {
          "start": 100908408,
          "end": 100908482
        },
        {
          "start": 100914701,
          "end": 100916626
        }
      ],
      "cds": {
        "start": 100879908,
        "end": 100914773
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 101417919,
      "end": 101456831,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 100398229,
      "end": 101398228,
      "genes": [
        {
          "symbol": "CERS3",
          "ensemblId": "ENSG00000154227",
          "biotype": "protein_coding",
          "start": 100400395,
          "end": 100544995,
          "strand": "-",
          "slug": "cers3"
        },
        {
          "symbol": "LINS1",
          "ensemblId": "ENSG00000140471",
          "biotype": "protein_coding",
          "start": 100559369,
          "end": 100603230,
          "strand": "-",
          "slug": "lins1"
        },
        {
          "symbol": "ASB7",
          "ensemblId": "ENSG00000183475",
          "biotype": "protein_coding",
          "start": 100602518,
          "end": 100651703,
          "strand": "+",
          "slug": "asb7"
        },
        {
          "symbol": "LRRK1",
          "ensemblId": "ENSG00000154237",
          "biotype": "protein_coding",
          "start": 100918893,
          "end": 101078257,
          "strand": "+",
          "slug": "lrrk1"
        },
        {
          "symbol": "CHSY1",
          "ensemblId": "ENSG00000131873",
          "biotype": "protein_coding",
          "start": 101145640,
          "end": 101252339,
          "strand": "-",
          "slug": "chsy1"
        },
        {
          "symbol": "SELENOS",
          "ensemblId": "ENSG00000131871",
          "biotype": "protein_coding",
          "start": 101270329,
          "end": 101277500,
          "strand": "-",
          "slug": "selenos"
        },
        {
          "symbol": "SNRPA1",
          "ensemblId": "ENSG00000131876",
          "biotype": "protein_coding",
          "start": 101281508,
          "end": 101295305,
          "strand": "-",
          "slug": "snrpa1"
        },
        {
          "symbol": "PCSK6",
          "ensemblId": "ENSG00000140479",
          "biotype": "protein_coding",
          "start": 101289784,
          "end": 101525202,
          "strand": "-",
          "slug": "pcsk6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "microphthalmia-anophthalmia-coloboma",
        "name": "Microftalmía, anoftalmía y coloboma",
        "diseases": [
          {
            "mondoId": "MONDO:0016764",
            "name": "Anoftalmía, microftalmía y coloboma aislados",
            "genes": 9,
            "inheritance": null,
            "description": "Malformaciones oculares sin otras características asociadas, incluida la nanoftalmia, causadas por alteraciones en genes como VSX2, RAX, MFRP, PRSS56 y otros.",
            "management": "Las personas con nanoftalmia (a menudo por alteraciones en MFRP o PRSS56) tienen un mayor riesgo de glaucoma de ángulo cerrado y necesitan revisiones oculares periódicas. Un diagnóstico genético también orienta sobre el riesgo de recurrencia.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/es/conditions/microphthalmia-anophthalmia-coloboma"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-choroid-morphology",
        "name": "Abnormal choroid morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-choroid-morphology"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "anophthalmia",
        "name": "Absence of eyeballs",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anophthalmia"
      },
      {
        "slug": "true-anophthalmia",
        "name": "Completely missing eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/true-anophthalmia"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "entropion",
        "name": "Eyelid folded in",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/entropion"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "retinal-coloboma",
        "name": "Hole in the back of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-coloboma"
      },
      {
        "slug": "hypoplastic-optic-chiasm",
        "name": "Hypoplastic optic chiasm",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-optic-chiasm"
      },
      {
        "slug": "optic-nerve-hypoplasia",
        "name": "Optic nerve hypoplasia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-nerve-hypoplasia"
      },
      {
        "slug": "retinal-detachment",
        "name": "Retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-detachment"
      },
      {
        "slug": "high-hypermetropia",
        "name": "Severe farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/high-hypermetropia"
      },
      {
        "slug": "short-palpebral-fissure",
        "name": "Short opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-palpebral-fissure"
      }
    ],
    "related": [
      {
        "slug": "fzd5",
        "symbol": "FZD5",
        "name": "frizzled class receptor 5",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/fzd5"
      },
      {
        "slug": "mfrp",
        "symbol": "MFRP",
        "name": "membrane frizzled-related protein",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/mfrp"
      },
      {
        "slug": "prss56",
        "symbol": "PRSS56",
        "name": "serine protease 56",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/prss56"
      },
      {
        "slug": "rax",
        "symbol": "RAX",
        "name": "retina and anterior neural fold homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/rax"
      },
      {
        "slug": "rbp4",
        "symbol": "RBP4",
        "name": "retinol binding protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/rbp4"
      },
      {
        "slug": "shh",
        "symbol": "SHH",
        "name": "sonic hedgehog signaling molecule",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/shh"
      },
      {
        "slug": "tmem98",
        "symbol": "TMEM98",
        "name": "transmembrane protein 98",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/tmem98"
      },
      {
        "slug": "vsx2",
        "symbol": "VSX2",
        "name": "visual system homeobox 2",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/vsx2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}