{ "url": "https://dantelabs.com/lt/genes/adamts13", "gene": { "slug": "adamts13", "symbol": "ADAMTS13", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 13", "hgnc": "HGNC:1366", "summary": null, "location": "9q34.2", "locusType": "gene with protein product", "aliases": [ "VWFCP", "TTP", "vWF-CP", "FLJ42993", "MGC118899", "MGC118900", "DKFZp434C2322" ], "previousSymbols": [ "C9orf8" ], "ensemblId": "ENSG00000160323", "entrezId": 11093, "omim": [ "604134" ], "uniprot": [ "Q76LX8" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "9", "start": 133422367, "end": 133459386, "strand": "+", "ensemblTranscript": "ENST00000355699.7", "refseqTranscript": "NM_139027.6", "ensemblProtein": "ENSP00000347927.2", "refseqProtein": "NP_620596.2", "exons": [ { "start": 133422367, "end": 133422548 }, { "start": 133423101, "end": 133423167 }, { "start": 133424321, "end": 133424478 }, { "start": 133425529, "end": 133425612 }, { "start": 133425938, "end": 133426062 }, { "start": 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"cds": { "start": 133422444, "end": 133459180 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "9", "start": 136279478, "end": 136324508, "strand": "+" }, "neighbourhood": { "release": "116", "start": 132940877, "end": 133940876, "genes": [ { "symbol": "TSC1", "ensemblId": "ENSG00000165699", "biotype": "protein_coding", "start": 132891348, "end": 132946874, "strand": "-", "slug": "tsc1" }, { "symbol": "GFI1B", "ensemblId": "ENSG00000165702", "biotype": "protein_coding", "start": 132944000, "end": 132991687, "strand": "+", "slug": "gfi1b" }, { "symbol": "GTF3C5", "ensemblId": "ENSG00000148308", "biotype": "protein_coding", "start": 133030675, "end": 133058503, "strand": "+", "slug": "gtf3c5" }, { "symbol": "CEL", "ensemblId": "ENSG00000170835", "biotype": "protein_coding", "start": 133061981, "end": 133071861, "strand": "+", "slug": "cel" }, { "symbol": "RALGDS", "ensemblId": "ENSG00000160271", "biotype": "protein_coding", "start": 133097657, "end": 133149440, "strand": "-", "slug": "ralgds" }, { "symbol": "", "ensemblId": "ENSG00000285245", "biotype": "protein_coding", "start": 133098121, "end": 133163914, "strand": "-" }, { "symbol": "GBGT1", "ensemblId": "ENSG00000148288", "biotype": "protein_coding", "start": 133151020, "end": 133164245, "strand": "-", "slug": "gbgt1" }, { "symbol": "OBP2B", "ensemblId": "ENSG00000171102", "biotype": "protein_coding", "start": 133205277, "end": 133209309, "strand": "-", "slug": "obp2b" }, { "symbol": "ABO", "ensemblId": "ENSG00000175164", "biotype": "protein_coding", "start": 133233278, "end": 133276024, "strand": "-", "slug": "abo" }, { "symbol": "SURF6", "ensemblId": "ENSG00000148296", "biotype": "protein_coding", "start": 133328684, "end": 133336289, "strand": "-", "slug": "surf6" }, { "symbol": "MED22", "ensemblId": "ENSG00000148297", "biotype": "protein_coding", "start": 133338312, "end": 133348140, "strand": "-", "slug": "med22" }, { "symbol": "RPL7A", "ensemblId": "ENSG00000148303", "biotype": "protein_coding", "start": 133347950, "end": 133351435, "strand": "+", "slug": "rpl7a" }, { "symbol": "SURF1", "ensemblId": "ENSG00000148290", "biotype": "protein_coding", "start": 133351069, "end": 133356676, "strand": "-", "slug": "surf1" }, { "symbol": "SURF2", "ensemblId": "ENSG00000148291", "biotype": "protein_coding", "start": 133356520, "end": 133362917, "strand": "+", "slug": "surf2" }, { "symbol": "SURF4", "ensemblId": "ENSG00000148248", "biotype": "protein_coding", "start": 133361450, "end": 133376233, "strand": "-", "slug": "surf4" }, { "symbol": "STKLD1", "ensemblId": "ENSG00000198870", "biotype": "protein_coding", "start": 133376332, "end": 133406096, "strand": "+", "slug": "stkld1" }, { "symbol": "REXO4", "ensemblId": "ENSG00000148300", "biotype": "protein_coding", "start": 133406026, "end": 133418096, "strand": "-", "slug": "rexo4" }, { "symbol": "CACFD1", "ensemblId": "ENSG00000160325", "biotype": "protein_coding", "start": 133459965, "end": 133470848, "strand": "+", "slug": "cacfd1" }, { "symbol": "SLC2A6", "ensemblId": "ENSG00000160326", "biotype": "protein_coding", "start": 133462053, "end": 133479148, "strand": "-", "slug": "slc2a6" }, { "symbol": "MYMK", "ensemblId": "ENSG00000187616", "biotype": "protein_coding", "start": 133514586, "end": 133528612, "strand": "-", "slug": "mymk" }, { "symbol": "ADAMTSL2", "ensemblId": "ENSG00000197859", "biotype": "protein_coding", "start": 133532164, "end": 133575522, "strand": "+", "slug": "adamtsl2" }, { "symbol": "FAM163B", "ensemblId": "ENSG00000196990", "biotype": "protein_coding", "start": 133577076, "end": 133609420, "strand": "-", "slug": "fam163b" }, { "symbol": "DBH", "ensemblId": "ENSG00000123454", "biotype": "protein_coding", "start": 133634456, "end": 133659329, "strand": "+", "slug": "dbh" }, { "symbol": "SARDH", "ensemblId": "ENSG00000123453", "biotype": "protein_coding", "start": 133663528, "end": 133739976, "strand": "-", "slug": "sardh" }, { "symbol": "VAV2", "ensemblId": "ENSG00000160293", "biotype": "protein_coding", "start": 133761892, "end": 133992854, "strand": "-", "slug": "vav2" } ], "truncated": false }, "reports": [ { "slug": "congenital-thrombotic-thrombocytopenic-purpura", "name": "Įgimta trombinė trombocitopeninė purpura", "diseases": [ { "mondoId": "MONDO:0010122", "name": "Įgimta trombinė trombocitopeninė purpura (Upshaw-Schulman sindromas)", "genes": 1, "inheritance": "autosomal-recessive", "description": "Ją sukelia abiejų ADAMTS13 kopijų pokyčiai; epizodai gali prasidėti naujagimiams, dažnai su sunkia gelta, arba pirmą kartą pasireikšti suaugusiems, dažnai po nėštumo ar infekcijos.", "management": "Reguliarus profilaktinis gydymas plazma arba rekombinantiniu ADAMTS13 užkerta kelią ūmiems epizodams, o nėštumo metu reikalinga atidi stebėsena.", "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/congenital-thrombotic-thrombocytopenic-purpura" }, { "slug": "inherited-thrombocytopenias", "name": "Paveldimos trombocitopenijos", "diseases": [ { "mondoId": "MONDO:0100241", "name": "Paveldima trombocitopenija", "genes": 33, "inheritance": null, "description": "Būklių grupė, dėl kurios visą gyvenimą mažas trombocitų skaičius; ji susijusi su tokiais genais kaip MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 ir MECOM, ir paveldima dominuojančiu, recesyviniu arba X chromosomoje susietu tipu.", "management": "Genetinė diagnozė padeda išvengti klaidingos diagnozės – imuninės trombocitopenijos – ir nereikalingo gydymo steroidais ar blužnies pašalinimo, be to, padeda stebėti susijusias inkstų, klausos ar kraujo problemas.", "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/inherited-thrombocytopenias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-renal-physiology", "name": "Abnormal kidney function", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/abnormal-renal-physiology" }, { "slug": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-distress" }, { "slug": "confusion", "name": "Confusion", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/confusion" }, { "slug": "elevated-circulating-creatinine-concentration", "name": "Elevated creatinine", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/fever" }, { "slug": "myocardial-infarction", "name": "Heart attack", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/myocardial-infarction" }, { "slug": "hemolytic-uremic-syndrome", "name": "Hemolytic-uremic syndrome", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/hemolytic-uremic-syndrome" }, { "slug": "proteinuria", "name": "High urine protein levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/proteinuria" }, { "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": "increased-blood-urea-nitrogen", "name": "Increased blood urea nitrogen", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/increased-blood-urea-nitrogen" }, { "slug": "reticulocytosis", "name": "Increased immature red blood cells", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/reticulocytosis" }, { "slug": "jaundice", "name": "Jaundice", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/jaundice" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "microangiopathic-hemolytic-anemia", "name": "Microangiopathic hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/microangiopathic-hemolytic-anemia" }, { "slug": "transient-ischemic-attack", "name": "Mini stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/transient-ischemic-attack" }, { "slug": "prolonged-neonatal-jaundice", "name": "Prolonged yellowing of skin in newborn", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice" }, { "slug": "schistocytosis", "name": "Schistocytosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/schistocytosis" }, { "slug": "microscopic-hematuria", "name": "Small amount of blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/microscopic-hematuria" }, { "slug": "stroke", "name": "Stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/stroke" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/tremor" } ], "related": [ { "slug": "actb", "symbol": "ACTB", "name": "actin beta", "shared": 1, "url": "https://dantelabs.com/lt/genes/actb" }, { "slug": "actn1", "symbol": "ACTN1", "name": "actinin alpha 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/actn1" }, { "slug": "ankrd26", "symbol": "ANKRD26", "name": "ankyrin repeat domain 26", "shared": 1, "url": "https://dantelabs.com/lt/genes/ankrd26" }, { "slug": "arpc1b", "symbol": "ARPC1B", "name": "actin related protein 2/3 complex subunit 1B", "shared": 1, "url": "https://dantelabs.com/lt/genes/arpc1b" }, { "slug": "cdc42", "symbol": "CDC42", "name": "cell division cycle 42", "shared": 1, "url": "https://dantelabs.com/lt/genes/cdc42" }, { "slug": "cycs", "symbol": "CYCS", "name": "cytochrome c, somatic", "shared": 1, "url": "https://dantelabs.com/lt/genes/cycs" }, { "slug": "diaph1", "symbol": "DIAPH1", "name": "diaphanous related formin 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/diaph1" }, { "slug": "etv6", "symbol": "ETV6", "name": "ETS variant transcription factor 6", "shared": 1, "url": "https://dantelabs.com/lt/genes/etv6" }, { "slug": "fli1", "symbol": "FLI1", "name": "Fli-1 proto-oncogene, ETS transcription factor", "shared": 1, "url": "https://dantelabs.com/lt/genes/fli1" }, { "slug": "fyb1", "symbol": "FYB1", "name": "FYN binding protein 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/fyb1" }, { "slug": "gale", "symbol": "GALE", "name": "UDP-galactose-4-epimerase", "shared": 1, "url": "https://dantelabs.com/lt/genes/gale" }, { "slug": "gata1", "symbol": "GATA1", "name": "GATA binding protein 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/gata1" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }