{
  "url": "https://dantelabs.com/sv/genes/ddc",
  "gene": {
    "slug": "ddc",
    "symbol": "DDC",
    "name": "dopa decarboxylase",
    "hgnc": "HGNC:2719",
    "summary": null,
    "location": "7p12.2-p12.1",
    "locusType": "gene with protein product",
    "aliases": [
      "AADC"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000132437",
    "entrezId": 1644,
    "omim": [
      "107930"
    ],
    "uniprot": [
      "P20711"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 50458442,
      "end": 50565405,
      "strand": "-",
      "ensemblTranscript": "ENST00000444124.7",
      "refseqTranscript": "NM_001082971.2",
      "ensemblProtein": "ENSP00000403644.2",
      "refseqProtein": "NP_001076440.2",
      "exons": [
        {
          "start": 50458442,
          "end": 50458843
        },
        {
          "start": 50463213,
          "end": 50463431
        },
        {
          "start": 50467214,
          "end": 50467315
        },
        {
          "start": 50470073,
          "end": 50470171
        },
        {
          "start": 50476624,
          "end": 50476643
        },
        {
          "start": 50479787,
          "end": 50479863
        },
        {
          "start": 50495350,
          "end": 50495417
        },
        {
          "start": 50499148,
          "end": 50499242
        },
        {
          "start": 50503993,
          "end": 50504059
        },
        {
          "start": 50528137,
          "end": 50528280
        },
        {
          "start": 50529208,
          "end": 50529342
        },
        {
          "start": 50537860,
          "end": 50537979
        },
        {
          "start": 50539915,
          "end": 50540028
        },
        {
          "start": 50543885,
          "end": 50544113
        },
        {
          "start": 50565285,
          "end": 50565405
        }
      ],
      "cds": {
        "start": 50463231,
        "end": 50544085
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 50526134,
      "end": 50633154,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 50011924,
      "end": 51011923,
      "genes": [
        {
          "symbol": "ZPBP",
          "ensemblId": "ENSG00000042813",
          "biotype": "protein_coding",
          "start": 49850421,
          "end": 50121329,
          "strand": "-",
          "slug": "zpbp"
        },
        {
          "symbol": "SPMIP7",
          "ensemblId": "ENSG00000164500",
          "biotype": "protein_coding",
          "start": 50095883,
          "end": 50159256,
          "strand": "+",
          "slug": "spmip7"
        },
        {
          "symbol": "IKZF1",
          "ensemblId": "ENSG00000185811",
          "biotype": "protein_coding",
          "start": 50303412,
          "end": 50405101,
          "strand": "+",
          "slug": "ikzf1"
        },
        {
          "symbol": "FIGNL1",
          "ensemblId": "ENSG00000132436",
          "biotype": "protein_coding",
          "start": 50439722,
          "end": 50450406,
          "strand": "-",
          "slug": "fignl1"
        },
        {
          "symbol": "GRB10",
          "ensemblId": "ENSG00000106070",
          "biotype": "protein_coding",
          "start": 50590063,
          "end": 50793486,
          "strand": "-",
          "slug": "grb10"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "bh4-deficiency-and-neurotransmitter-disorders",
        "name": "BH4-brist och monoaminneurotransmittorsjukdomar",
        "diseases": [
          {
            "mondoId": "MONDO:0019219",
            "name": "Medfödda störningar i metabolism och transport av signalämnen",
            "genes": 5,
            "inheritance": null,
            "description": "Omfattar brist på aromatisk L-aminosyradekarboxylas (AADC), brist på tyrosinhydroxylas och sjukdom orsakad av vesikulär monoamintransportör (SLC18A2), som kan orsaka rörelsestörningar, låg muskelspänning och försenad utveckling.",
            "management": "Kunskap om detta möjliggör riktad behandling, till exempel L-dopa vid brist på tyrosinhydroxylas eller genterapi vid AADC-brist.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/bh4-deficiency-and-neurotransmitter-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-face",
        "name": "Abnormality of the face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-the-face"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "nasal-congestion",
        "name": "Blockage of nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nasal-congestion"
      },
      {
        "slug": "emotional-lability",
        "name": "Can't control feelings",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/emotional-lability"
      },
      {
        "slug": "cardiorespiratory-arrest",
        "name": "Cardiorespiratory arrest",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiorespiratory-arrest"
      },
      {
        "slug": "choreoathetosis",
        "name": "Choreoathetosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/choreoathetosis"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "miosis",
        "name": "Constricted pupils",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/miosis"
      },
      {
        "slug": "decreased-csf-5-hydroxyindolacetic-acid-concentration",
        "name": "Decreased CSF 5-hydroxyindolacetic acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-csf-5-hydroxyindolacetic-acid-concentration"
      },
      {
        "slug": "decreased-csf-homovanillic-acid-concentration",
        "name": "Decreased CSF homovanillic acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-csf-homovanillic-acid-concentration"
      },
      {
        "slug": "hypokinesia",
        "name": "Decreased muscle movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypokinesia"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "diminished-deep-tendon-reflex",
        "name": "Diminished deep tendon reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex"
      },
      {
        "slug": "diminished-movement",
        "name": "Diminished movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diminished-movement"
      },
      {
        "slug": "dyskinesia",
        "name": "Disorder of involuntary muscle movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dyskinesia"
      },
      {
        "slug": "drooling",
        "name": "Drooling",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/drooling"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "elevated-urinary-vanillactic-acid-level",
        "name": "Elevated urinary vanillactic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-urinary-vanillactic-acid-level"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "exaggerated-startle-response",
        "name": "Exaggerated startle response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exaggerated-startle-response"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "blepharospasm",
        "name": "Eyelid spasm",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blepharospasm"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "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": "increased-circulating-prolactin-concentration",
        "name": "Increased circulating prolactin concentration",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-circulating-prolactin-concentration"
      },
      {
        "slug": "limb-hypertonia",
        "name": "Increased muscle tone of arm or leg",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/limb-hypertonia"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "intermittent-hypothermia",
        "name": "Intermittent hypothermia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/intermittent-hypothermia"
      },
      {
        "slug": "athetosis",
        "name": "Involuntary writhing movements in fingers, hands, toes, and feet",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/athetosis"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "joint-contracture",
        "name": "Joint contracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/joint-contracture"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "limb-dystonia",
        "name": "Limb dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/limb-dystonia"
      },
      {
        "slug": "limb-tremor",
        "name": "Limb tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-tremor"
      },
      {
        "slug": "hypotension",
        "name": "Low blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotension"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "oculogyric-crisis",
        "name": "Oculogyric crisis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/oculogyric-crisis"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "reduced-circulating-aromatic-l-amino-acid-decarboxylase-activity",
        "name": "Reduced circulating aromatic L-amino acid decarboxylase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/reduced-circulating-aromatic-l-amino-acid-decarboxylase-activity"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "temperature-instability",
        "name": "Temperature instability",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/temperature-instability"
      },
      {
        "slug": "tongue-thrusting",
        "name": "Tongue thrusting",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tongue-thrusting"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "torticollis",
        "name": "Wry neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/torticollis"
      }
    ],
    "related": [
      {
        "slug": "dbh",
        "symbol": "DBH",
        "name": "dopamine beta-hydroxylase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/dbh"
      },
      {
        "slug": "maoa",
        "symbol": "MAOA",
        "name": "monoamine oxidase A",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/maoa"
      },
      {
        "slug": "slc18a2",
        "symbol": "SLC18A2",
        "name": "solute carrier family 18 member A2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/slc18a2"
      },
      {
        "slug": "th",
        "symbol": "TH",
        "name": "tyrosine hydroxylase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/th"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}