{
  "url": "https://dantelabs.com/hu/genes/pdhx",
  "gene": {
    "slug": "pdhx",
    "symbol": "PDHX",
    "name": "pyruvate dehydrogenase complex component X",
    "hgnc": "HGNC:21350",
    "summary": null,
    "location": "11p13",
    "locusType": "gene with protein product",
    "aliases": [
      "E3BP",
      "proX",
      "PDX1",
      "OPDX",
      "DLDBP"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000110435",
    "entrezId": 8050,
    "omim": [
      "608769"
    ],
    "uniprot": [
      "O00330"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 34916618,
      "end": 34996128,
      "strand": "+",
      "ensemblTranscript": "ENST00000227868.9",
      "refseqTranscript": "NM_003477.3",
      "ensemblProtein": "ENSP00000227868.4",
      "refseqProtein": "NP_003468.2",
      "exons": [
        {
          "start": 34916618,
          "end": 34916815
        },
        {
          "start": 34931404,
          "end": 34931484
        },
        {
          "start": 34947506,
          "end": 34947606
        },
        {
          "start": 34957384,
          "end": 34957583
        },
        {
          "start": 34960420,
          "end": 34960518
        },
        {
          "start": 34966640,
          "end": 34966814
        },
        {
          "start": 34970139,
          "end": 34970286
        },
        {
          "start": 34978124,
          "end": 34978182
        },
        {
          "start": 34984570,
          "end": 34984728
        },
        {
          "start": 34992315,
          "end": 34992379
        },
        {
          "start": 34994914,
          "end": 34996128
        }
      ],
      "cds": {
        "start": 34916656,
        "end": 34995172
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 34937376,
      "end": 35042138,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 34456373,
      "end": 35456372,
      "genes": [
        {
          "symbol": "CAT",
          "ensemblId": "ENSG00000121691",
          "biotype": "protein_coding",
          "start": 34438709,
          "end": 34472061,
          "strand": "+",
          "slug": "cat"
        },
        {
          "symbol": "ELF5",
          "ensemblId": "ENSG00000135374",
          "biotype": "protein_coding",
          "start": 34478791,
          "end": 34525193,
          "strand": "-",
          "slug": "elf5"
        },
        {
          "symbol": "EHF",
          "ensemblId": "ENSG00000135373",
          "biotype": "protein_coding",
          "start": 34617044,
          "end": 34663386,
          "strand": "+",
          "slug": "ehf"
        },
        {
          "symbol": "APIP",
          "ensemblId": "ENSG00000149089",
          "biotype": "protein_coding",
          "start": 34853094,
          "end": 34916520,
          "strand": "-",
          "slug": "apip"
        },
        {
          "symbol": "CD44",
          "ensemblId": "ENSG00000026508",
          "biotype": "protein_coding",
          "start": 35138721,
          "end": 35232402,
          "strand": "+",
          "slug": "cd44"
        },
        {
          "symbol": "SLC1A2",
          "ensemblId": "ENSG00000110436",
          "biotype": "protein_coding",
          "start": 35251205,
          "end": 35420063,
          "strand": "-",
          "slug": "slc1a2"
        },
        {
          "symbol": "PAMR1",
          "ensemblId": "ENSG00000149090",
          "biotype": "protein_coding",
          "start": 35431823,
          "end": 35530300,
          "strand": "-",
          "slug": "pamr1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "pyruvate-dehydrogenase-and-pyruvate-carboxylase-deficiency",
        "name": "Pyruvate Dehydrogenase & Pyruvate Carboxylase Deficiency",
        "diseases": [
          {
            "mondoId": "MONDO:0019169",
            "name": "Pyruvate Dehydrogenase Deficiency",
            "genes": 7,
            "inheritance": "autosomal-recessive",
            "description": "Caused by variants in PDHA1 (X-linked, often new in the child) or in PDHB, DLAT, PDHX, DLD, PDP1 or LIAS, which can cause lactic acidosis, developmental delay, seizures and movement problems.",
            "management": "Knowing allows a ketogenic diet, avoidance of high-carbohydrate loads, and thiamine for responsive forms.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/pyruvate-dehydrogenase-and-pyruvate-carboxylase-deficiency"
      },
      {
        "slug": "leigh-syndrome",
        "name": "Leigh Syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0009723",
            "name": "Leigh Syndrome",
            "genes": 69,
            "inheritance": null,
            "description": "A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/leigh-syndrome"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Rare Hereditary Peripheral Neuropathies",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Hereditary Peripheral Neuropathy",
            "genes": 233,
            "inheritance": null,
            "description": "Caused by changes in one of many genes needed to keep long nerve fibres healthy. In this report these include IGHMBP2 and PLEKHG5, which are recessive.",
            "management": "Physiotherapy, orthoses and occupational therapy help maintain mobility, with surgery for foot deformities when needed. Some forms need breathing monitoring. Genetic counselling guides family testing according to the inheritance pattern of the gene involved.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-basal-ganglia-morphology",
        "name": "Abnormal basal ganglia morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-basal-ganglia-morphology"
      },
      {
        "slug": "abnormal-circulating-pyruvate-family-amino-acid-concentration",
        "name": "Abnormal circulating pyruvate family amino acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-pyruvate-family-amino-acid-concentration"
      },
      {
        "slug": "abnormal-corpus-callosum-morphology",
        "name": "Abnormal corpus callosum morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-corpus-callosum-morphology"
      },
      {
        "slug": "abnormal-csf-pyruvate-family-amino-acid-concentration",
        "name": "Abnormal CSF pyruvate family amino acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-csf-pyruvate-family-amino-acid-concentration"
      },
      {
        "slug": "abnormal-brainstem-morphology",
        "name": "Abnormal shape of brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-brainstem-morphology"
      },
      {
        "slug": "abnormality-of-eye-movement",
        "name": "Abnormality of eye movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-eye-movement"
      },
      {
        "slug": "abnormal-cerebellum-morphology",
        "name": "Abnormality of the cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-cerebellum-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "decreased-activity-of-the-pyruvate-dehydrogenase-complex",
        "name": "Decreased activity of the pyruvate dehydrogenase complex",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-activity-of-the-pyruvate-dehydrogenase-complex"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "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": "increased-csf-lactate",
        "name": "Increased CSF lactate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-csf-lactate"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "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": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "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": "neonatal-hypotonia",
        "name": "Low muscle tone, in neonatal onset",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/neonatal-hypotonia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "partial-agenesis-of-the-corpus-callosum",
        "name": "Partial agenesis of the corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/partial-agenesis-of-the-corpus-callosum"
      },
      {
        "slug": "periventricular-cysts",
        "name": "Periventricular cysts",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/periventricular-cysts"
      },
      {
        "slug": "poor-fine-motor-coordination",
        "name": "Poor fine motor coordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/poor-fine-motor-coordination"
      },
      {
        "slug": "poor-gross-motor-coordination",
        "name": "Poor gross motor coordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/poor-gross-motor-coordination"
      },
      {
        "slug": "spastic-diplegia",
        "name": "Spastic diplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-diplegia"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spastic-paraplegia"
      },
      {
        "slug": "spastic-tetraplegia",
        "name": "Spastic tetraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spastic-tetraplegia"
      },
      {
        "slug": "subependymal-cysts",
        "name": "Subependymal cysts",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/subependymal-cysts"
      },
      {
        "slug": "tetraparesis",
        "name": "Tetraparesis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tetraparesis"
      },
      {
        "slug": "trigonocephaly",
        "name": "Triangular head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/trigonocephaly"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/unsteady-gait"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "dlat",
        "symbol": "DLAT",
        "name": "dihydrolipoamide S-acetyltransferase",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/dlat"
      },
      {
        "slug": "dld",
        "symbol": "DLD",
        "name": "dihydrolipoamide dehydrogenase",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/dld"
      },
      {
        "slug": "pdha1",
        "symbol": "PDHA1",
        "name": "pyruvate dehydrogenase E1 subunit alpha 1",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/pdha1"
      },
      {
        "slug": "pdhb",
        "symbol": "PDHB",
        "name": "pyruvate dehydrogenase E1 subunit beta",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/pdhb"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/aifm1"
      },
      {
        "slug": "atp5mk",
        "symbol": "ATP5MK",
        "name": "ATP synthase membrane subunit k",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/atp5mk"
      },
      {
        "slug": "btd",
        "symbol": "BTD",
        "name": "biotinidase",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/btd"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cox10"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/ears2"
      },
      {
        "slug": "echs1",
        "symbol": "ECHS1",
        "name": "enoyl-CoA hydratase, short chain 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/echs1"
      },
      {
        "slug": "ethe1",
        "symbol": "ETHE1",
        "name": "ETHE1 persulfide dioxygenase",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/ethe1"
      },
      {
        "slug": "fars2",
        "symbol": "FARS2",
        "name": "phenylalanyl-tRNA synthetase 2, mitochondrial",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/fars2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}