{
  "url": "https://dantelabs.com/ro/genes/rpia",
  "gene": {
    "slug": "rpia",
    "symbol": "RPIA",
    "name": "ribose 5-phosphate isomerase A",
    "hgnc": "HGNC:10297",
    "summary": null,
    "location": "2p11.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000153574",
    "entrezId": 22934,
    "omim": [
      "180430"
    ],
    "uniprot": [
      "P49247"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 88691673,
      "end": 88750929,
      "strand": "+",
      "ensemblTranscript": "ENST00000283646.5",
      "refseqTranscript": "NM_144563.3",
      "ensemblProtein": "ENSP00000283646.3",
      "refseqProtein": "NP_653164.2",
      "exons": [
        {
          "start": 88691673,
          "end": 88691983
        },
        {
          "start": 88698484,
          "end": 88698544
        },
        {
          "start": 88700009,
          "end": 88700064
        },
        {
          "start": 88729278,
          "end": 88729337
        },
        {
          "start": 88734552,
          "end": 88734616
        },
        {
          "start": 88735669,
          "end": 88735737
        },
        {
          "start": 88736535,
          "end": 88736676
        },
        {
          "start": 88737977,
          "end": 88738076
        },
        {
          "start": 88749981,
          "end": 88750929
        }
      ],
      "cds": {
        "start": 88691699,
        "end": 88750078
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 88991162,
      "end": 89050452,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 88221301,
      "end": 89221300,
      "genes": [
        {
          "symbol": "FOXI3",
          "ensemblId": "ENSG00000214336",
          "biotype": "protein_coding",
          "start": 88444826,
          "end": 88452693,
          "strand": "-",
          "slug": "foxi3"
        },
        {
          "symbol": "SPMIP9",
          "ensemblId": "ENSG00000172073",
          "biotype": "protein_coding",
          "start": 88524619,
          "end": 88529591,
          "strand": "+",
          "slug": "spmip9"
        },
        {
          "symbol": "EIF2AK3",
          "ensemblId": "ENSG00000172071",
          "biotype": "protein_coding",
          "start": 88556741,
          "end": 88691518,
          "strand": "-",
          "slug": "eif2ak3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "leukodystrophy",
        "name": "Alte leucodistrofii ereditare",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Leucodistrofie (alte tipuri și tipuri nespecificate)",
            "genes": 80,
            "inheritance": null,
            "description": "Afecțiuni ereditare care deteriorează sau împiedică formarea normală a mielinei, adică a substanței albe a creierului și a măduvei spinării. Tipurile diferite urmează moștenire autozomal recesivă, autozomal dominantă sau legată de cromozomul X, în funcție de genele implicate.",
            "management": "Cunoașterea cauzei genetice specifice poate pune capăt unei căutări de diagnostic, poate ghida îngrijirea de susținere și monitorizarea, poate arăta dacă există un tratament specific și poate permite testarea rudelor.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/leukodystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "decreased-csf-erythritol-concentration",
        "name": "Decreased CSF erythritol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-csf-erythritol-concentration"
      },
      {
        "slug": "decreased-level-of-erythritol-in-urine",
        "name": "Decreased level of erythritol in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-level-of-erythritol-in-urine"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "elevated-brain-polyol-compounds-by-mrs",
        "name": "Elevated brain polyol compounds by MRS",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-brain-polyol-compounds-by-mrs"
      },
      {
        "slug": "elevated-circulating-d-threitol-concentration",
        "name": "Elevated circulating D-threitol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-d-threitol-concentration"
      },
      {
        "slug": "elevated-circulating-ribitol-concentration",
        "name": "Elevated circulating ribitol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-ribitol-concentration"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "incoordination",
        "name": "Incoordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "increased-csf-d-threitol-concentration",
        "name": "Increased CSF D-threitol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/increased-csf-d-threitol-concentration"
      },
      {
        "slug": "increased-csf-ribitol-concentration",
        "name": "Increased CSF ribitol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/increased-csf-ribitol-concentration"
      },
      {
        "slug": "increased-csf-ribose-concentration",
        "name": "Increased CSF ribose concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/increased-csf-ribose-concentration"
      },
      {
        "slug": "increased-csf-xylitol-concentration",
        "name": "Increased CSF xylitol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/increased-csf-xylitol-concentration"
      },
      {
        "slug": "increased-level-of-d-threitol-in-urine",
        "name": "Increased level of D-threitol in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-level-of-d-threitol-in-urine"
      },
      {
        "slug": "increased-level-of-ribitol-in-urine",
        "name": "Increased level of ribitol in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-level-of-ribitol-in-urine"
      },
      {
        "slug": "increased-level-of-ribose-in-urine",
        "name": "Increased level of ribose in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-level-of-ribose-in-urine"
      },
      {
        "slug": "increased-level-of-xylitol-in-urine",
        "name": "Increased level of xylitol in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-level-of-xylitol-in-urine"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "leukoencephalopathy",
        "name": "Leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/leukoencephalopathy"
      },
      {
        "slug": "sensorimotor-neuropathy",
        "name": "Nerve damage causing decreased feeling and movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/sensorimotor-neuropathy"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "polyneuropathy",
        "name": "Peripheral nerve disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/polyneuropathy"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/aars2"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/abcd1"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/acer3"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/adar"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/aimp1"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/aimp2"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/aldh3a2"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/arsa"
      },
      {
        "slug": "aspa",
        "symbol": "ASPA",
        "name": "aspartoacylase",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/aspa"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/atp11a"
      },
      {
        "slug": "clcn2",
        "symbol": "CLCN2",
        "name": "chloride voltage-gated channel 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/clcn2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}