{
  "url": "https://dantelabs.com/ro/genes/naglu",
  "gene": {
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    "name": "N-acetyl-alpha-glucosaminidase",
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    "location": "17q21.2",
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      "NAG"
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      "609701"
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      "P54802"
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      "refseqProtein": "NP_000254.2",
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      "build": "GRCh37",
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        {
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        {
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        {
          "symbol": "ATP6V0A1",
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        {
          "symbol": "COASY",
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        {
          "symbol": "MLX",
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        {
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          "symbol": "TUBG1",
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        {
          "symbol": "TUBG2",
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        {
          "symbol": "PLEKHH3",
          "ensemblId": "ENSG00000068137",
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        {
          "symbol": "CCR10",
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        {
          "symbol": "CNTNAP1",
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        {
          "symbol": "EZH1",
          "ensemblId": "ENSG00000108799",
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        {
          "symbol": "RAMP2",
          "ensemblId": "ENSG00000131477",
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        {
          "symbol": "VPS25",
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        {
          "symbol": "WNK4",
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        {
          "symbol": "COA3",
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        {
          "symbol": "CNTD1",
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          "symbol": "BECN1",
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          "symbol": "PSME3",
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        {
          "symbol": "AOC2",
          "ensemblId": "ENSG00000131480",
          "biotype": "protein_coding",
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          "slug": "aoc2"
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        {
          "symbol": "AOC3",
          "ensemblId": "ENSG00000131471",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "aoc3"
        },
        {
          "symbol": "G6PC1",
          "ensemblId": "ENSG00000131482",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "g6pc1"
        },
        {
          "symbol": "AARSD1",
          "ensemblId": "ENSG00000266967",
          "biotype": "protein_coding",
          "start": 42950424,
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          "strand": "-",
          "slug": "aarsd1"
        },
        {
          "symbol": "PTGES3L-AARSD1",
          "ensemblId": "ENSG00000108825",
          "biotype": "protein_coding",
          "start": 42950526,
          "end": 42980528,
          "strand": "-",
          "slug": "ptges3l-aarsd1"
        },
        {
          "symbol": "PTGES3L",
          "ensemblId": "ENSG00000267060",
          "biotype": "protein_coding",
          "start": 42968035,
          "end": 42980502,
          "strand": "-",
          "slug": "ptges3l"
        },
        {
          "symbol": "RUNDC1",
          "ensemblId": "ENSG00000198863",
          "biotype": "protein_coding",
          "start": 42980552,
          "end": 42995142,
          "strand": "+",
          "slug": "rundc1"
        },
        {
          "symbol": "RPL27",
          "ensemblId": "ENSG00000131469",
          "biotype": "protein_coding",
          "start": 42998265,
          "end": 43002973,
          "strand": "+",
          "slug": "rpl27"
        },
        {
          "symbol": "VAT1",
          "ensemblId": "ENSG00000108828",
          "biotype": "protein_coding",
          "start": 42999182,
          "end": 43025123,
          "strand": "-",
          "slug": "vat1"
        },
        {
          "symbol": "IFI35",
          "ensemblId": "ENSG00000068079",
          "biotype": "protein_coding",
          "start": 43006740,
          "end": 43014638,
          "strand": "+",
          "slug": "ifi35"
        },
        {
          "symbol": "RND2",
          "ensemblId": "ENSG00000108830",
          "biotype": "protein_coding",
          "start": 43025210,
          "end": 43047509,
          "strand": "+",
          "slug": "rnd2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "mucopolysaccharidosis-type-3",
        "name": "Mucopolisaharidoza tip III (sindromul Sanfilippo)",
        "diseases": [
          {
            "mondoId": "MONDO:0018937",
            "name": "Mucopolisaharidoza tip III (sindromul Sanfilippo tipurile A, B, C și D)",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Deficitul uneia dintre cele patru enzime care descompun sulfatul de heparan (SGSH în tipul A, NAGLU în tipul B, HGSNAT în tipul C, GNS în tipul D) provoacă întârziere în vorbire, hiperactivitate, tulburări de somn și pierderea progresivă a abilităților în copilărie.",
            "management": "Nu există încă un tratament aprobat care să modifice evoluția bolii; un diagnostic genetic ghidează îngrijirea de susținere, testarea membrilor familiei și eligibilitatea pentru studii clinice.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/mucopolysaccharidosis-type-3"
      },
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Boala Charcot-Marie-Tooth",
        "diseases": [
          {
            "mondoId": "MONDO:0015626",
            "name": "Boala Charcot-Marie-Tooth",
            "genes": 62,
            "inheritance": null,
            "description": "Un grup de neuropatii periferice ereditare care provoacă slăbiciune progresivă și atrofierea mușchilor distali, precum și pierderea sensibilității, mai ales la nivelul picioarelor și al mâinilor.",
            "management": "Consiliere genetică, monitorizare specifică subtipului, kinetoterapie, ortezare, evitarea medicamentelor neurotoxice, studii clinice specifice genelor, supraveghere pentru manifestările asociate",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/charcot-marie-tooth-disease-type-1"
      },
      {
        "slug": "lysosomal-storage-disease",
        "name": "Boală de stocare lizozomală",
        "diseases": [
          {
            "mondoId": "MONDO:0002561",
            "name": "Boală de depozitare lizozomală (alte tipuri și tipuri nespecificate)",
            "genes": 59,
            "inheritance": null,
            "description": "Acoperă bolile de depozitare lizozomală fără un raport dedicat, cum ar fi boala Farber și alte tulburări legate de ASAH1, deficiențele de prosaposină (PSAP), deficitul multiplu de sulfataze, mucopolizaharidozele de tip IX și X și boala Dorfman-Chanarin; modul de transmitere variază în funcție de subtip, cel mai adesea fiind autozomal recesiv.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/lysosomal-storage-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "asymmetric-septal-hypertrophy",
        "name": "Asymmetric septal hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/asymmetric-septal-hypertrophy"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "coarse-hair",
        "name": "Coarse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/coarse-hair"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "dense-calvaria",
        "name": "Dense skull cap",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/dense-calvaria"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "dysostosis-multiplex",
        "name": "Dysostosis multiplex",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysostosis-multiplex"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "hirsutism",
        "name": "Excessive hairiness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hirsutism"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "heparan-sulfate-excretion-in-urine",
        "name": "Heparan sulfate excretion in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/heparan-sulfate-excretion-in-urine"
      },
      {
        "slug": "impaired-vibratory-sensation",
        "name": "Impaired vibratory sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-vibratory-sensation"
      },
      {
        "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": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "joint-stiffness",
        "name": "Joint stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/joint-stiffness"
      },
      {
        "slug": "lower-limb-pain",
        "name": "Lower limb pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lower-limb-pain"
      },
      {
        "slug": "synophrys",
        "name": "Monobrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/synophrys"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "ovoid-thoracolumbar-vertebrae",
        "name": "Ovoid thoracolumbar vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/ovoid-thoracolumbar-vertebrae"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "paresthesia",
        "name": "Pins and needles feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/paresthesia"
      },
      {
        "slug": "recurrent-upper-respiratory-tract-infections",
        "name": "Recurrent colds",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections"
      },
      {
        "slug": "reduced-tissue-alpha-n-acetylglucosaminidase-activity",
        "name": "Reduced tissue alpha-N-acetylglucosaminidase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-tissue-alpha-n-acetylglucosaminidase-activity"
      },
      {
        "slug": "sensory-ataxia",
        "name": "Sensory ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensory-ataxia"
      },
      {
        "slug": "thickened-ribs",
        "name": "Thickened ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thickened-ribs"
      },
      {
        "slug": "progressive-neurologic-deterioration",
        "name": "Worsening neurological symptoms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-neurologic-deterioration"
      }
    ],
    "related": [
      {
        "slug": "gns",
        "symbol": "GNS",
        "name": "glucosamine (N-acetyl)-6-sulfatase",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/gns"
      },
      {
        "slug": "hgsnat",
        "symbol": "HGSNAT",
        "name": "heparan-alpha-glucosaminide N-acetyltransferase",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/hgsnat"
      },
      {
        "slug": "sgsh",
        "symbol": "SGSH",
        "name": "N-sulfoglucosamine sulfohydrolase",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/sgsh"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/aars1"
      },
      {
        "slug": "abhd5",
        "symbol": "ABHD5",
        "name": "abhydrolase domain containing 5, lysophosphatidic acid acyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/abhd5"
      },
      {
        "slug": "aga",
        "symbol": "AGA",
        "name": "aspartylglucosaminidase",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/aga"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/aifm1"
      },
      {
        "slug": "ap5z1",
        "symbol": "AP5Z1",
        "name": "adaptor related protein complex 5 subunit zeta 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ap5z1"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/arsa"
      },
      {
        "slug": "arsb",
        "symbol": "ARSB",
        "name": "arylsulfatase B",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/arsb"
      },
      {
        "slug": "arsk",
        "symbol": "ARSK",
        "name": "arylsulfatase family member K",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/arsk"
      },
      {
        "slug": "asah1",
        "symbol": "ASAH1",
        "name": "N-acylsphingosine amidohydrolase 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/asah1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}