{
  "url": "https://dantelabs.com/pt/genes/hikeshi",
  "gene": {
    "slug": "hikeshi",
    "symbol": "HIKESHI",
    "name": "heat shock protein nuclear import factor hikeshi",
    "hgnc": "HGNC:26938",
    "summary": null,
    "location": "11q14.2",
    "locusType": "gene with protein product",
    "aliases": [
      "HSPC138",
      "HSPC179",
      "OPI10"
    ],
    "previousSymbols": [
      "C11orf73"
    ],
    "ensemblId": "ENSG00000149196",
    "entrezId": 51501,
    "omim": [
      "614908"
    ],
    "uniprot": [
      "Q53FT3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 86302240,
      "end": 86345943,
      "strand": "+",
      "ensemblTranscript": "ENST00000278483.8",
      "refseqTranscript": "NM_016401.4",
      "ensemblProtein": "ENSP00000278483.3",
      "refseqProtein": "NP_057485.2",
      "exons": [
        {
          "start": 86302240,
          "end": 86302478
        },
        {
          "start": 86306245,
          "end": 86306482
        },
        {
          "start": 86337379,
          "end": 86337530
        },
        {
          "start": 86344603,
          "end": 86344721
        },
        {
          "start": 86345584,
          "end": 86345943
        }
      ],
      "cds": {
        "start": 86302449,
        "end": 86345638
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 86013253,
      "end": 86056969,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 85824092,
      "end": 86824091,
      "genes": [
        {
          "symbol": "CCDC83",
          "ensemblId": "ENSG00000150676",
          "biotype": "protein_coding",
          "start": 85828907,
          "end": 85920021,
          "strand": "+",
          "slug": "ccdc83"
        },
        {
          "symbol": "PICALM",
          "ensemblId": "ENSG00000073921",
          "biotype": "protein_coding",
          "start": 85957157,
          "end": 86069882,
          "strand": "-",
          "slug": "picalm"
        },
        {
          "symbol": "EED",
          "ensemblId": "ENSG00000074266",
          "biotype": "protein_coding",
          "start": 86201212,
          "end": 86279811,
          "strand": "+",
          "slug": "eed"
        },
        {
          "symbol": "CCDC81",
          "ensemblId": "ENSG00000149201",
          "biotype": "protein_coding",
          "start": 86374736,
          "end": 86423109,
          "strand": "+",
          "slug": "ccdc81"
        },
        {
          "symbol": "ME3",
          "ensemblId": "ENSG00000151376",
          "biotype": "protein_coding",
          "start": 86438751,
          "end": 86672636,
          "strand": "-",
          "slug": "me3"
        },
        {
          "symbol": "PRSS23",
          "ensemblId": "ENSG00000150687",
          "biotype": "protein_coding",
          "start": 86791059,
          "end": 86954151,
          "strand": "+",
          "slug": "prss23"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies",
        "name": "Doença de Pelizaeus-Merzbacher e Leucodistrofias Hipomielinizantes",
        "diseases": [
          {
            "mondoId": "MONDO:0014813",
            "name": "Leucodistrofia hipomielinizante 13 (HIKESHI)",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Forma hereditária rara de leucodistrofia hipomielinizante, em que a mielina do cérebro não se forma normalmente, causando atraso do desenvolvimento e problemas de movimento.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies"
      },
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Doenças Neurodegenerativas Hereditárias",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "Doença Neurodegenerativa Associada a KIF5A",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Causada por alterações numa cópia do gene KIF5A, que codifica uma proteína motora com uma cauda de ligação a carga. Diferentes tipos de alteração originam diferentes doenças: paraplegia espástica hereditária tipo 10, uma forma axonal da doença de Charcot-Marie-Tooth e esclerose lateral amiotrófica (ELA).",
            "management": "O tratamento é sintomático e depende da apresentação clínica, incluindo fisioterapia, medicamentos antiespásticos e cuidados multidisciplinares para a ELA. Cada filho de uma pessoa afetada tem uma probabilidade de 1 em 2 de herdar a alteração; o aconselhamento genético ajuda as famílias a compreender este risco.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/inherited-neurodegenerative-disorders-selected-genes"
      },
      {
        "slug": "leukodystrophy",
        "name": "Outras Leucodistrofias Hereditárias",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Leucodistrofia (outros tipos e tipos não especificados)",
            "genes": 80,
            "inheritance": null,
            "description": "Doenças hereditárias que danificam ou impedem a formação normal da mielina, a substância branca do cérebro e da medula espinal. Os diferentes tipos seguem um padrão de herança autossómica recessiva, autossómica dominante ou ligada ao X, consoante o gene envolvido.",
            "management": "Conhecer a causa genética específica pode pôr fim a uma pesquisa de diagnóstico, orientar os cuidados de suporte e o acompanhamento, indicar se existe um tratamento específico e permitir a realização de testes aos familiares.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/leukodystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-periventricular-white-matter-morphology",
        "name": "Abnormal periventricular white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-periventricular-white-matter-morphology"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "clonus",
        "name": "Clonus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/clonus"
      },
      {
        "slug": "delayed-brainstem-auditory-evoked-response-conduction-time",
        "name": "Delayed brainstem auditory evoked response conduction time",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-brainstem-auditory-evoked-response-conduction-time"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "secondary-microcephaly",
        "name": "Development of small head that was not present at birth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/secondary-microcephaly"
      },
      {
        "slug": "exaggerated-startle-response",
        "name": "Exaggerated startle response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exaggerated-startle-response"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "joint-contracture",
        "name": "Joint contracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/joint-contracture"
      },
      {
        "slug": "leukodystrophy",
        "name": "Leukodystrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/leukodystrophy"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "lower-limb-spasticity",
        "name": "Lower limb spasticity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lower-limb-spasticity"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/aars2"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/abcd1"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/acer3"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/adar"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/aimp1"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/aimp2"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/aldh3a2"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/arsa"
      },
      {
        "slug": "aspa",
        "symbol": "ASPA",
        "name": "aspartoacylase",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/aspa"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/atp11a"
      },
      {
        "slug": "clcn2",
        "symbol": "CLCN2",
        "name": "chloride voltage-gated channel 2",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/clcn2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}