{
  "url": "https://dantelabs.com/el/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": "Ανεπάρκεια Πυρουβικής Αφυδρογονάσης & Πυρουβικής Καρβοξυλάσης",
        "diseases": [
          {
            "mondoId": "MONDO:0019169",
            "name": "Ανεπάρκεια Πυρουβικής Αφυδρογονάσης",
            "genes": 7,
            "inheritance": "autosomal-recessive",
            "description": "Προκαλείται από παραλλαγές στο PDHA1 (συνδεδεμένη με το X χρωμόσωμα, συχνά νέα στο παιδί) ή στα PDHB, DLAT, PDHX, DLD, PDP1 ή LIAS, οι οποίες μπορούν να προκαλέσουν γαλακτική οξέωση, καθυστέρηση ανάπτυξης, σπασμούς και κινητικά προβλήματα.",
            "management": "Η γνώση επιτρέπει τη χρήση κετογονικής δίαιτας, την αποφυγή μεγάλων φορτίων υδατανθράκων και τη θειαμίνη για τις ανταποκρινόμενες μορφές.",
            "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/el/conditions/pyruvate-dehydrogenase-and-pyruvate-carboxylase-deficiency"
      },
      {
        "slug": "leigh-syndrome",
        "name": "Σύνδρομο Leigh",
        "diseases": [
          {
            "mondoId": "MONDO:0009723",
            "name": "Σύνδρομο Leigh",
            "genes": 69,
            "inheritance": null,
            "description": "Μια προοδευτική νευρολογική νόσος που χαρακτηρίζεται από συγκεκριμένα νευροπαθολογικά ευρήματα, τα οποία συνδυάζουν βλάβες του εγκεφαλικού στελέχους και των βασικών γαγγλίων.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/leigh-syndrome"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Σπάνιες κληρονομικές περιφερικές νευροπάθειες",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Κληρονομική περιφερική νευροπάθεια",
            "genes": 233,
            "inheritance": null,
            "description": "Προκαλείται από μεταβολές σε ένα από τα πολλά γονίδια που είναι απαραίτητα για τη διατήρηση της υγείας των μακριών νευρικών ινών. Σε αυτή την αναφορά, μεταξύ αυτών περιλαμβάνονται τα IGHMBP2 και PLEKHG5, τα οποία είναι υπολειπόμενα.",
            "management": "Η φυσικοθεραπεία, οι ορθώσεις και η εργοθεραπεία βοηθούν στη διατήρηση της κινητικότητας, με χειρουργική επέμβαση για παραμορφώσεις των ποδιών όταν χρειάζεται. Ορισμένες μορφές απαιτούν παρακολούθηση της αναπνοής. Η γενετική συμβουλευτική καθοδηγεί τον έλεγχο της οικογένειας σύμφωνα με τον τρόπο κληρονομικότητας του εμπλεκόμενου γονιδίου.",
            "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/el/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/el/genes/dlat"
      },
      {
        "slug": "dld",
        "symbol": "DLD",
        "name": "dihydrolipoamide dehydrogenase",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/dld"
      },
      {
        "slug": "pdha1",
        "symbol": "PDHA1",
        "name": "pyruvate dehydrogenase E1 subunit alpha 1",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/pdha1"
      },
      {
        "slug": "pdhb",
        "symbol": "PDHB",
        "name": "pyruvate dehydrogenase E1 subunit beta",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/pdhb"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/aifm1"
      },
      {
        "slug": "atp5mk",
        "symbol": "ATP5MK",
        "name": "ATP synthase membrane subunit k",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/atp5mk"
      },
      {
        "slug": "btd",
        "symbol": "BTD",
        "name": "biotinidase",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/btd"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/cox10"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/ears2"
      },
      {
        "slug": "echs1",
        "symbol": "ECHS1",
        "name": "enoyl-CoA hydratase, short chain 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/echs1"
      },
      {
        "slug": "ethe1",
        "symbol": "ETHE1",
        "name": "ETHE1 persulfide dioxygenase",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/ethe1"
      },
      {
        "slug": "fars2",
        "symbol": "FARS2",
        "name": "phenylalanyl-tRNA synthetase 2, mitochondrial",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/fars2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}