{
  "url": "https://dantelabs.com/pt/genes/htra1",
  "gene": {
    "slug": "htra1",
    "symbol": "HTRA1",
    "name": "HtrA serine peptidase 1",
    "hgnc": "HGNC:9476",
    "summary": null,
    "location": "10q26.13",
    "locusType": "gene with protein product",
    "aliases": [
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    "entrezId": 5654,
    "omim": [
      "602194"
    ],
    "uniprot": [
      "Q92743"
    ],
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      "release": "v1.5",
      "chrom": "10",
      "start": 122461553,
      "end": 122514907,
      "strand": "+",
      "ensemblTranscript": "ENST00000368984.8",
      "refseqTranscript": "NM_002775.5",
      "ensemblProtein": "ENSP00000357980.3",
      "refseqProtein": "NP_002766.1",
      "exons": [
        {
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          "end": 122462124
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        }
      ],
      "cds": {
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        "end": 122514359
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
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      "end": 124274424,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
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      "end": 122988229,
      "genes": [
        {
          "symbol": "TACC2",
          "ensemblId": "ENSG00000138162",
          "biotype": "protein_coding",
          "start": 121989163,
          "end": 122254560,
          "strand": "+",
          "slug": "tacc2"
        },
        {
          "symbol": "BTBD16",
          "ensemblId": "ENSG00000138152",
          "biotype": "protein_coding",
          "start": 122271296,
          "end": 122338159,
          "strand": "+",
          "slug": "btbd16"
        },
        {
          "symbol": "PLEKHA1",
          "ensemblId": "ENSG00000107679",
          "biotype": "protein_coding",
          "start": 122374222,
          "end": 122434367,
          "strand": "+",
          "slug": "plekha1"
        },
        {
          "symbol": "ARMS2",
          "ensemblId": "ENSG00000254636",
          "biotype": "protein_coding",
          "start": 122454653,
          "end": 122457352,
          "strand": "+",
          "slug": "arms2"
        },
        {
          "symbol": "DMBT1",
          "ensemblId": "ENSG00000187908",
          "biotype": "protein_coding",
          "start": 122560641,
          "end": 122643740,
          "strand": "+",
          "slug": "dmbt1"
        },
        {
          "symbol": "SPADH",
          "ensemblId": "ENSG00000286135",
          "biotype": "protein_coding",
          "start": 122672850,
          "end": 122679494,
          "strand": "+",
          "slug": "spadh"
        },
        {
          "symbol": "C10orf120",
          "ensemblId": "ENSG00000183559",
          "biotype": "protein_coding",
          "start": 122697709,
          "end": 122699846,
          "strand": "-",
          "slug": "c10orf120"
        },
        {
          "symbol": "CUZD1",
          "ensemblId": "ENSG00000138161",
          "biotype": "protein_coding",
          "start": 122832158,
          "end": 122846175,
          "strand": "-",
          "slug": "cuzd1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000286088",
          "biotype": "protein_coding",
          "start": 122832167,
          "end": 122879583,
          "strand": "-"
        },
        {
          "symbol": "FAM24B",
          "ensemblId": "ENSG00000213185",
          "biotype": "protein_coding",
          "start": 122849078,
          "end": 122879641,
          "strand": "-",
          "slug": "fam24b"
        },
        {
          "symbol": "FAM24A",
          "ensemblId": "ENSG00000203795",
          "biotype": "protein_coding",
          "start": 122910604,
          "end": 122913111,
          "strand": "+",
          "slug": "fam24a"
        },
        {
          "symbol": "C10orf88",
          "ensemblId": "ENSG00000119965",
          "biotype": "protein_coding",
          "start": 122930901,
          "end": 122954337,
          "strand": "-",
          "slug": "c10orf88"
        },
        {
          "symbol": "PSTK",
          "ensemblId": "ENSG00000179988",
          "biotype": "protein_coding",
          "start": 122954381,
          "end": 122997513,
          "strand": "+",
          "slug": "pstk"
        },
        {
          "symbol": "IKZF5",
          "ensemblId": "ENSG00000095574",
          "biotype": "protein_coding",
          "start": 122985332,
          "end": 123008826,
          "strand": "-",
          "slug": "ikzf5"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "cerebral-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy",
        "name": "Arteriopatia Cerebral com Infartos Subcorticais e Leucoencefalopatia",
        "diseases": [
          {
            "mondoId": "MONDO:0007432",
            "name": "Arteriopatia Cerebral Com Infartos Subcorticais E Leucoencefalopatia",
            "genes": 2,
            "inheritance": null,
            "description": null,
            "management": "CADASIL: controlo intensivo da tensão arterial, evitar anticoagulação/trombólise, profilaxia da enxaqueca (evitar triptanos), reabilitação cognitiva; Fabry: terapia de substituição enzimática (agalsidase), migalastat; COL4A1: controlo da tensão arterial, evitar desportos de contacto; aconselhamento genético",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/cerebral-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "abnormality-of-extrapyramidal-motor-function",
        "name": "Abnormality of extrapyramidal motor function",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function"
      },
      {
        "slug": "alopecia-of-scalp",
        "name": "Absence of scalp hair",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/alopecia-of-scalp"
      },
      {
        "slug": "abulia",
        "name": "Abulia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abulia"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "akinetic-mutism",
        "name": "Akinetic mutism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/akinetic-mutism"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "back-pain",
        "name": "Back pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/back-pain"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "brain-atrophy",
        "name": "Brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brain-atrophy"
      },
      {
        "slug": "emotional-lability",
        "name": "Can't control feelings",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/emotional-lability"
      },
      {
        "slug": "cervical-spondylosis",
        "name": "Cervical spine degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cervical-spondylosis"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "deep-cerebral-white-matter-hyperintensities",
        "name": "Deep cerebral white matter hyperintensities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/deep-cerebral-white-matter-hyperintensities"
      },
      {
        "slug": "delusion",
        "name": "Delusions",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delusion"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "aphasia",
        "name": "Difficulty finding words",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aphasia"
      },
      {
        "slug": "diffuse-cerebral-atrophy",
        "name": "Diffuse cerebral atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diffuse-cerebral-atrophy"
      },
      {
        "slug": "diffuse-demyelination-of-the-cerebral-white-matter",
        "name": "Diffuse demyelination of the cerebral white matter",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/diffuse-demyelination-of-the-cerebral-white-matter"
      },
      {
        "slug": "diffuse-white-matter-abnormalities",
        "name": "Diffuse white matter abnormalities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diffuse-white-matter-abnormalities"
      },
      {
        "slug": "dilation-of-virchow-robin-spaces",
        "name": "Dilation of Virchow-Robin spaces",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dilation-of-virchow-robin-spaces"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "gait-apraxia",
        "name": "Gait apraxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gait-apraxia"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "hallucinations",
        "name": "Hallucinations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hallucinations"
      },
      {
        "slug": "arteriosclerosis",
        "name": "Hardened artery wall",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arteriosclerosis"
      },
      {
        "slug": "arteriosclerosis-of-small-cerebral-arteries",
        "name": "Hardened artery wall in small cerebral arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/arteriosclerosis-of-small-cerebral-arteries"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hyperintensity-of-cerebral-white-matter-on-mri",
        "name": "Hyperintensity of cerebral white matter on MRI",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperintensity-of-cerebral-white-matter-on-mri"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "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": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "kyphoscoliosis",
        "name": "Kyphoscoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/kyphoscoliosis"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "apathy",
        "name": "Lack of feeling, emotion, interest",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/apathy"
      },
      {
        "slug": "lacunar-stroke",
        "name": "Lacunar stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lacunar-stroke"
      },
      {
        "slug": "leukoencephalopathy",
        "name": "Leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/leukoencephalopathy"
      },
      {
        "slug": "localized-osteoporosis",
        "name": "Localized osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/localized-osteoporosis"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "bowel-incontinence",
        "name": "Loss of bowel control",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bowel-incontinence"
      },
      {
        "slug": "lower-limb-pain",
        "name": "Lower limb pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lower-limb-pain"
      },
      {
        "slug": "low-back-pain",
        "name": "Lumbago",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/low-back-pain"
      },
      {
        "slug": "mental-deterioration",
        "name": "Mental deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mental-deterioration"
      },
      {
        "slug": "transient-ischemic-attack",
        "name": "Mini stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/transient-ischemic-attack"
      },
      {
        "slug": "carotid-artery-stenosis",
        "name": "Narrowing of carotid artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/carotid-artery-stenosis"
      },
      {
        "slug": "neck-pain",
        "name": "Neck pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neck-pain"
      },
      {
        "slug": "progressive-encephalopathy",
        "name": "Progressive brain disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-encephalopathy"
      },
      {
        "slug": "pseudobulbar-paralysis",
        "name": "Pseudobulbar paralysis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system",
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pseudobulbar-paralysis"
      },
      {
        "slug": "pseudobulbar-signs",
        "name": "Pseudobulbar signs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pseudobulbar-signs"
      },
      {
        "slug": "recurrent-subcortical-infarcts",
        "name": "Recurrent subcortical infarcts",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-subcortical-infarcts"
      },
      {
        "slug": "rigidity",
        "name": "Rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rigidity"
      },
      {
        "slug": "somatic-sensory-dysfunction",
        "name": "Somatic sensory dysfunction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction"
      },
      {
        "slug": "spastic-ataxia",
        "name": "Spastic ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-ataxia"
      },
      {
        "slug": "status-cribrosum",
        "name": "Status cribrosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/status-cribrosum"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "stroke-like-episode",
        "name": "Stroke-like episode",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stroke-like-episode"
      },
      {
        "slug": "vascular-granular-osmiophilic-material-deposition",
        "name": "Vascular granular osmiophilic material deposition",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/vascular-granular-osmiophilic-material-deposition"
      },
      {
        "slug": "hemiparesis",
        "name": "Weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemiparesis"
      }
    ],
    "related": [
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "name": "notch receptor 3",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/notch3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}