{ "url": "https://dantelabs.com/de/genes/lias", "gene": { "slug": "lias", "symbol": "LIAS", "name": "lipoic acid synthetase", "hgnc": "HGNC:16429", "summary": null, "location": "4p14", "locusType": "gene with protein product", "aliases": [ "LAS" ], "previousSymbols": [], "ensemblId": "ENSG00000121897", "entrezId": 11019, "omim": [ "607031" ], "uniprot": [ "O43766" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "4", "start": 39459056, "end": 39479506, "strand": "+", "ensemblTranscript": "ENST00000640888.2", "refseqTranscript": "NM_006859.4", "ensemblProtein": "ENSP00000492260.1", "refseqProtein": "NP_006850.2", "exons": [ { "start": 39459056, "end": 39459162 }, { "start": 39460790, "end": 39460962 }, { "start": 39462196, "end": 39462289 }, { "start": 39463525, "end": 39463605 }, { "start": 39465046, "end": 39465202 }, { "start": 39465285, "end": 39465342 }, { "start": 39467518, "end": 39467646 }, { "start": 39470019, "end": 39470164 }, { "start": 39471236, "end": 39471306 }, { "start": 39473100, "end": 39473211 }, { "start": 39477063, "end": 39479506 } ], "cds": { "start": 39459118, "end": 39477115 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "4", "start": 39460620, "end": 39479273, "strand": "+" }, "neighbourhood": { "release": "116", "start": 38969281, "end": 39969280, "genes": [ { "symbol": "TMEM156", "ensemblId": "ENSG00000121895", "biotype": "protein_coding", "start": 38965999, "end": 39032922, "strand": "-", "slug": "tmem156" }, { "symbol": "KLHL5", "ensemblId": "ENSG00000109790", "biotype": "protein_coding", "start": 39044613, "end": 39126857, "strand": "+", "slug": "klhl5" }, { "symbol": "WDR19", "ensemblId": "ENSG00000157796", "biotype": "protein_coding", "start": 39182463, "end": 39285810, "strand": "+", "slug": "wdr19" }, { "symbol": "RFC1", "ensemblId": "ENSG00000035928", "biotype": "protein_coding", "start": 39287455, "end": 39366400, "strand": "-", "slug": "rfc1" }, { "symbol": "KLB", "ensemblId": "ENSG00000134962", "biotype": "protein_coding", "start": 39406896, "end": 39451533, "strand": "+", "slug": "klb" }, { "symbol": "RPL9", "ensemblId": "ENSG00000163682", "biotype": "protein_coding", "start": 39450679, "end": 39472424, "strand": "-", "slug": "rpl9" }, { "symbol": "UGDH", "ensemblId": "ENSG00000109814", "biotype": "protein_coding", "start": 39498755, "end": 39528311, "strand": "-", "slug": "ugdh" }, { "symbol": "SMIM14", "ensemblId": "ENSG00000163683", "biotype": "protein_coding", "start": 39546336, "end": 39639092, "strand": "-", "slug": "smim14" }, { "symbol": "UBE2K", "ensemblId": "ENSG00000078140", "biotype": "protein_coding", "start": 39697879, "end": 39782792, "strand": "+", "slug": "ube2k" }, { "symbol": "PDS5A", "ensemblId": "ENSG00000121892", "biotype": "protein_coding", "start": 39822863, "end": 39977993, "strand": "-", "slug": "pds5a" } ], "truncated": false }, "reports": [ { "slug": "pyruvate-dehydrogenase-and-pyruvate-carboxylase-deficiency", "name": "Pyruvat-Dehydrogenase- und Pyruvat-Carboxylase-Mangel", "diseases": [ { "mondoId": "MONDO:0019169", "name": "Pyruvat-Dehydrogenase-Mangel", "genes": 7, "inheritance": "autosomal-recessive", "description": "Verursacht durch Varianten in PDHA1 (X-chromosomal gebunden, häufig neu beim Kind entstanden) oder in PDHB, DLAT, PDHX, DLD, PDP1 oder LIAS, die eine Laktatazidose, Entwicklungsverzögerung, Krampfanfälle und Bewegungsstörungen verursachen können.", "management": "Die Kenntnis ermöglicht eine ketogene Diät, die Vermeidung hoher Kohlenhydratmengen und bei ansprechenden Formen die Gabe von Thiamin.", "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/pyruvate-dehydrogenase-and-pyruvate-carboxylase-deficiency" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "apnea", "name": "Apnea", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/apnea" }, { "slug": "cerebral-edema", "name": "Brain swelling", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-edema" }, { "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": "obligate", "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": "occasional", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "sleep-disturbance", "name": "Difficulty sleeping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sleep-disturbance" }, { "slug": "encephalopathy", "name": "Encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/encephalopathy" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "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": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "increased-circulating-lactate-concentration", "name": "Higher than normal levels of lactate in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "joint-contracture", "name": "Joint contracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/joint-contracture" }, { "slug": "leukodystrophy", "name": "Leukodystrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/leukodystrophy" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "reduced-tissue-glycine-cleavage-enzyme-activity", "name": "Reduced tissue glycine cleavage enzyme activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-tissue-glycine-cleavage-enzyme-activity" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "spastic-tetraplegia", "name": "Spastic tetraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spastic-tetraplegia" } ], "related": [ { "slug": "dlat", "symbol": "DLAT", "name": "dihydrolipoamide S-acetyltransferase", "shared": 1, "url": "https://dantelabs.com/de/genes/dlat" }, { "slug": "dld", "symbol": "DLD", "name": "dihydrolipoamide dehydrogenase", "shared": 1, "url": "https://dantelabs.com/de/genes/dld" }, { "slug": "pdha1", "symbol": "PDHA1", "name": "pyruvate dehydrogenase E1 subunit alpha 1", "shared": 1, "url": "https://dantelabs.com/de/genes/pdha1" }, { "slug": "pdhb", "symbol": "PDHB", "name": "pyruvate dehydrogenase E1 subunit beta", "shared": 1, "url": "https://dantelabs.com/de/genes/pdhb" }, { "slug": "pdhx", "symbol": "PDHX", "name": "pyruvate dehydrogenase complex component X", "shared": 1, "url": "https://dantelabs.com/de/genes/pdhx" }, { "slug": "pdp1", "symbol": "PDP1", "name": "pyruvate dehydrogenase phosphatase catalytic subunit 1", "shared": 1, "url": "https://dantelabs.com/de/genes/pdp1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }