{ "url": "https://dantelabs.com/pt/genes/pc", "gene": { "slug": "pc", "symbol": "PC", "name": "pyruvate carboxylase", "hgnc": "HGNC:8636", "summary": null, "location": "11q13.2", "locusType": "gene with protein product", "aliases": [ "PCB" ], "previousSymbols": [], "ensemblId": "ENSG00000173599", "entrezId": 5091, "omim": [ "608786" ], "uniprot": [ "P11498" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 66848420, "end": 66958383, "strand": "-", "ensemblTranscript": "ENST00000393960.7", "refseqTranscript": "NM_001040716.2", "ensemblProtein": "ENSP00000377532.1", "refseqProtein": "NP_001035806.1", "exons": [ { "start": 66848420, "end": 66849147 }, { "start": 66849230, "end": 66849370 }, { "start": 66849611, "end": 66849859 }, { "start": 66849937, "end": 66850116 }, { "start": 66850220, "end": 66850464 }, { "start": 66850674, "end": 66850923 }, { "start": 66851040, "end": 66851280 }, { "start": 66851790, "end": 66851946 }, { "start": 66852439, "end": 66852660 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"syt12" }, { "symbol": "RHOD", "ensemblId": "ENSG00000173156", "biotype": "protein_coding", "start": 67056608, "end": 67072044, "strand": "+", "slug": "rhod" }, { "symbol": "KDM2A", "ensemblId": "ENSG00000173120", "biotype": "protein_coding", "start": 67119247, "end": 67258082, "strand": "+", "slug": "kdm2a" }, { "symbol": "GRK2", "ensemblId": "ENSG00000173020", "biotype": "protein_coding", "start": 67266351, "end": 67286562, "strand": "+", "slug": "grk2" }, { "symbol": "ANKRD13D", "ensemblId": "ENSG00000172932", "biotype": "protein_coding", "start": 67288655, "end": 67302486, "strand": "+", "slug": "ankrd13d" }, { "symbol": "SSH3", "ensemblId": "ENSG00000172830", "biotype": "protein_coding", "start": 67303478, "end": 67312608, "strand": "+", "slug": "ssh3" }, { "symbol": "RAD9A", "ensemblId": "ENSG00000172613", "biotype": "protein_coding", "start": 67317871, "end": 67398412, "strand": "+", "slug": "rad9a" }, { "symbol": "POLD4", "ensemblId": "ENSG00000175482", "biotype": "protein_coding", "start": 67345400, "end": 67356972, "strand": "-", "slug": "pold4" }, { "symbol": "", "ensemblId": "ENSG00000256514", "biotype": "protein_coding", "start": 67351572, "end": 67373584, "strand": "-" }, { "symbol": "CLCF1", "ensemblId": "ENSG00000175505", "biotype": "protein_coding", "start": 67364168, "end": 67374301, "strand": "-", "slug": "clcf1" }, { "symbol": "PPP1CA", "ensemblId": "ENSG00000172531", "biotype": "protein_coding", "start": 67398176, "end": 67421183, "strand": "-", "slug": "ppp1ca" }, { "symbol": "TBC1D10C", "ensemblId": "ENSG00000175463", "biotype": "protein_coding", "start": 67398454, "end": 67410092, "strand": "+", "slug": "tbc1d10c" } ], "truncated": false }, "reports": [ { "slug": "pyruvate-dehydrogenase-and-pyruvate-carboxylase-deficiency", "name": "Deficiência de Piruvato Desidrogenase e de Piruvato Carboxilase", "diseases": [ { "mondoId": "MONDO:0009949", "name": "Deficiência de Piruvato Carboxilase", "genes": 1, "inheritance": "autosomal-recessive", "description": "Causada por variantes em PC, que podem causar acidose láctica, hipoglicemia e problemas de desenvolvimento, com gravidade variável, desde formas graves neonatais a formas mais ligeiras.", "management": "Conhecer a alteração permite evitar o jejum, tratar prontamente as crises metabólicas e seguir um acompanhamento alimentar especializado; a dieta cetogénica deve ser evitada.", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Myriad Women's Health", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/pyruvate-dehydrogenase-and-pyruvate-carboxylase-deficiency" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "clonus", "name": "Clonus", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/clonus" }, { "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" ], "frequency": "frequent", "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": "increased-circulating-lactate-concentration", "name": "Higher than normal levels of lactate in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration" }, { "slug": "hyperalaninemia", "name": "Increased blood alanine", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hyperalaninemia" }, { "slug": "increased-circulating-pyruvate-concentration", "name": "Increased circulating pyruvate concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/increased-circulating-pyruvate-concentration" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "athetosis", "name": "Involuntary writhing movements in fingers, hands, toes, and feet", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/athetosis" }, { "slug": "leukodystrophy", "name": "Leukodystrophy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/leukodystrophy" }, { "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": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "neuronal-loss-in-the-cerebral-cortex", "name": "Neuronal loss in the cerebral cortex", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/neuronal-loss-in-the-cerebral-cortex" }, { "slug": "periventricular-leukomalacia", "name": "Periventricular leukomalacia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/periventricular-leukomalacia" }, { "slug": "proximal-renal-tubular-acidosis", "name": "Proximal renal tubular acidosis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/proximal-renal-tubular-acidosis" } ], "related": [], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }