{ "url": "https://dantelabs.com/ro/genes/alas2", "gene": { "slug": "alas2", "symbol": "ALAS2", "name": "5'-aminolevulinate synthase 2", "hgnc": "HGNC:397", "summary": null, "location": "Xp11.21", "locusType": "gene with protein product", "aliases": [ "ALAS-E" ], "previousSymbols": [ "ASB" ], "ensemblId": "ENSG00000158578", "entrezId": 212, "omim": [ "301300" ], "uniprot": [ "P22557" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "X", "start": 55009055, "end": 55030977, "strand": "-", "ensemblTranscript": "ENST00000650242.1", "refseqTranscript": "NM_000032.5", "ensemblProtein": "ENSP00000497236.1", "refseqProtein": "NP_000023.2", "exons": [ { "start": 55009055, "end": 55009343 }, { "start": 55013486, "end": 55013648 }, { "start": 55014747, "end": 55015015 }, { "start": 55015578, "end": 55015742 }, { "start": 55017486, "end": 55017665 }, { "start": 55020320, "end": 55020504 }, { "start": 55021052, "end": 55021274 }, { "start": 55023757, "end": 55023867 }, { "start": 55024718, "end": 55024840 }, { "start": 55025820, "end": 55026015 }, { "start": 55030942, "end": 55030977 } ], "cds": { "start": 55009180, "end": 55026000 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "X", "start": 55035488, "end": 55057497, "strand": "-" }, "neighbourhood": { "release": "116", "start": 54520016, "end": 55520015, "genes": [ { "symbol": "GNL3L", "ensemblId": "ENSG00000130119", "biotype": "protein_coding", "start": 54529900, "end": 54621565, "strand": "+", "slug": "gnl3l" }, { "symbol": "ITIH6", "ensemblId": "ENSG00000102313", "biotype": "protein_coding", "start": 54748918, "end": 54798255, "strand": "-", "slug": "itih6" }, { "symbol": "MAGED2", "ensemblId": "ENSG00000102316", "biotype": "protein_coding", "start": 54807572, "end": 54816015, "strand": "+", "slug": "maged2" }, { "symbol": "TRO", "ensemblId": "ENSG00000067445", "biotype": "protein_coding", "start": 54920462, "end": 54931436, "strand": "+", "slug": "tro" }, { "symbol": "PFKFB1", "ensemblId": "ENSG00000158571", "biotype": "protein_coding", "start": 54931434, "end": 54994789, "strand": "-", "slug": "pfkfb1" }, { "symbol": "APEX2", "ensemblId": "ENSG00000169188", "biotype": "protein_coding", "start": 55000323, "end": 55009057, "strand": "+", "slug": "apex2" }, { "symbol": "PAGE2B", "ensemblId": "ENSG00000238269", "biotype": "protein_coding", "start": 55028123, "end": 55078913, "strand": "+", "slug": "page2b" }, { "symbol": "PAGE2", "ensemblId": "ENSG00000234068", "biotype": "protein_coding", "start": 55089011, "end": 55092842, "strand": "+", "slug": "page2" }, { "symbol": "VCF2", "ensemblId": "ENSG00000182518", "biotype": "protein_coding", "start": 55143102, "end": 55161310, "strand": "-", "slug": "vcf2" }, { "symbol": "PAGE5", "ensemblId": "ENSG00000158639", "biotype": "protein_coding", "start": 55211094, "end": 55224116, "strand": "+", "slug": "page5" }, { "symbol": "PAGE3", "ensemblId": "ENSG00000204279", "biotype": "protein_coding", "start": 55257591, "end": 55264927, "strand": "-", "slug": "page3" }, { "symbol": "MAGEH1", "ensemblId": "ENSG00000187601", "biotype": "protein_coding", "start": 55452127, "end": 55453566, "strand": "+", "slug": "mageh1" }, { "symbol": "USP51", "ensemblId": "ENSG00000247746", "biotype": "protein_coding", "start": 55484616, "end": 55489874, "strand": "-", "slug": "usp51" } ], "truncated": false }, "reports": [ { "slug": "hepatic-porphyria-disorders", "name": "Tulburări de porfirie hepatică", "diseases": [ { "mondoId": "MONDO:0002520", "name": "Porfirie hepatică", "genes": 8, "inheritance": null, "description": "Un grup de boli metabolice cauzate de deficitul uneia dintre mai multe enzime hepatice din calea de biosinteză a hemului. Se caracterizează prin acumularea și excreția crescută a porfirinelor sau a precursorilor acestora. Manifestările clinice includ simptome neurologice (porfirie acută intermitentă), leziuni cutanate din cauza fotosensibilității (porfirie cutanată tardivă) sau ambele (coproporfirie ereditară). Porfiriile hepatice pot fi ereditare sau pot fi dobândite ca urmare a toxicității asupra țesutului hepatic.", "management": null, "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/hepatic-porphyria-disorders" }, { "slug": "hereditary-sideroblastic-anaemias", "name": "Anemiile sideroblastice ereditare", "diseases": [ { "mondoId": "MONDO:0020099", "name": "Anemia sideroblastică ereditară", "genes": 8, "inheritance": null, "description": "Un grup de afecțiuni cauzate de modificări ale unor gene precum ALAS2 și ABCB7 (legate de cromozomul X), SLC25A38, GLRX5, PUS1, YARS2 și TRNT1 (recesive) și HSPA9 (dominantă); unele forme afectează și mușchii, sistemul nervos sau sistemul imunitar.", "management": "Forma legată de cromozomul X, asociată cu ALAS2, răspunde adesea la vitamina B6 (piridoxină), iar un diagnostic ghidează monitorizarea supraîncărcării cu fier și deosebește aceste afecțiuni de sindromul mielodisplazic dobândit.", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/hereditary-sideroblastic-anaemias" }, { "slug": "porphyria", "name": "Porfirie", "diseases": [ { "mondoId": "MONDO:0037939", "name": "Porfirie", "genes": 9, "inheritance": null, "description": "Porfiria este un grup de boli în care se acumulează substanțe numite porfirine, afectând negativ pielea sau sistemul nervos. Majoritatea tipurilor sunt ereditare, dar porfiria cutanată tardivă poate fi cauzată și de un exces de fier în ficat, de hepatita C, de consumul de alcool sau de HIV/SIDA.", "management": "Prevenirea atacurilor prin evitarea factorilor declanșatori, dextroză intravenoasă sau hemină în timpul atacurilor acute, terapie prin interferență ARN (givosiran), consiliere genetică", "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/porphyria" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-iron-homeostasis", "name": "Abnormality of iron homeostasis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-iron-homeostasis" }, { "slug": "anemia-of-inadequate-production", "name": "Anemia of inadequate production", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anemia-of-inadequate-production" }, { "slug": "anemic-pallor", "name": "Anemic pallor", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anemic-pallor" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "cholelithiasis", "name": "Gallstones", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cholelithiasis" }, { "slug": "glucose-intolerance", "name": "Glucose intolerance", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/glucose-intolerance" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "hypochromic-microcytic-anemia", "name": "Hypochromic microcytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypochromic-microcytic-anemia" }, { "slug": "increased-erythrocyte-protoporphyrin-concentration", "name": "Increased erythrocyte protoporphyrin concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/increased-erythrocyte-protoporphyrin-concentration" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "iron-deficiency-anemia", "name": "Iron deficiency anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/iron-deficiency-anemia" }, { "slug": "asthenia", "name": "Lack of energy and strength", "systems": [ "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/asthenia" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "macrocytic-anemia", "name": "Macrocytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/macrocytic-anemia" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "pallor", "name": "Paleness", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pallor" }, { "slug": "hyperpigmentation-of-the-skin", "name": "Patchy darkened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin" }, { "slug": "cutaneous-photosensitivity", "name": "Photosensitive skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/cutaneous-photosensitivity" }, { "slug": "sideroblastic-anemia", "name": "Sideroblastic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sideroblastic-anemia" } ], "related": [ { "slug": "alad", "symbol": "ALAD", "name": "aminolevulinate dehydratase", "shared": 2, "url": "https://dantelabs.com/ro/genes/alad" }, { "slug": "clpx", "symbol": "CLPX", "name": "caseinolytic mitochondrial matrix peptidase chaperone subunit X", "shared": 2, "url": "https://dantelabs.com/ro/genes/clpx" }, { "slug": "cpox", "symbol": "CPOX", "name": "coproporphyrinogen oxidase", "shared": 2, "url": "https://dantelabs.com/ro/genes/cpox" }, { "slug": "fech", "symbol": "FECH", "name": "ferrochelatase", "shared": 2, "url": "https://dantelabs.com/ro/genes/fech" }, { "slug": "hmbs", "symbol": "HMBS", "name": "hydroxymethylbilane synthase", "shared": 2, "url": "https://dantelabs.com/ro/genes/hmbs" }, { "slug": "ppox", "symbol": "PPOX", "name": "protoporphyrinogen oxidase", "shared": 2, "url": "https://dantelabs.com/ro/genes/ppox" }, { "slug": "urod", "symbol": "UROD", "name": "uroporphyrinogen decarboxylase", "shared": 2, "url": "https://dantelabs.com/ro/genes/urod" }, { "slug": "abcb7", "symbol": "ABCB7", "name": "ATP binding cassette subfamily B member 7", "shared": 1, "url": "https://dantelabs.com/ro/genes/abcb7" }, { "slug": "glrx5", "symbol": "GLRX5", "name": "glutaredoxin 5", "shared": 1, "url": "https://dantelabs.com/ro/genes/glrx5" }, { "slug": "hspa9", "symbol": "HSPA9", "name": "heat shock protein family A (Hsp70) member 9", "shared": 1, "url": "https://dantelabs.com/ro/genes/hspa9" }, { "slug": "pus1", "symbol": "PUS1", "name": "pseudouridine synthase 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/pus1" }, { "slug": "slc25a38", "symbol": "SLC25A38", "name": "solute carrier family 25 member 38", "shared": 1, "url": "https://dantelabs.com/ro/genes/slc25a38" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }