{ "url": "https://dantelabs.com/pl/genes/mpi", "gene": { "slug": "mpi", "symbol": "MPI", "name": "mannose phosphate isomerase", "hgnc": "HGNC:7216", "summary": null, "location": "15q24.1", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [], "ensemblId": "ENSG00000178802", "entrezId": 4351, "omim": [ "154550" ], "uniprot": [ "P34949" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "15", "start": 74890042, "end": 74902219, "strand": "+", "ensemblTranscript": "ENST00000352410.9", "refseqTranscript": "NM_002435.3", "ensemblProtein": "ENSP00000318318.6", "refseqProtein": "NP_002426.1", "exons": [ { "start": 74890042, "end": 74890089 }, { "start": 74890527, "end": 74890654 }, { "start": 74891379, "end": 74891579 }, { "start": 74892661, "end": 74892802 }, { "start": 74893138, "end": 74893320 }, { "start": 74896152, "end": 74896325 }, { "start": 74897011, "end": 74897219 }, { "start": 74897512, "end": 74902219 } ], "cds": { "start": 74890074, "end": 74897730 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "15", "start": 75182346, "end": 75191798, "strand": "+" }, "neighbourhood": { "release": "116", "start": 74396131, "end": 75396130, "genes": [ { "symbol": "SEMA7A", "ensemblId": "ENSG00000138623", "biotype": "protein_coding", "start": 74409289, "end": 74433965, "strand": "-", "slug": "sema7a" }, { "symbol": "UBL7", "ensemblId": "ENSG00000138629", "biotype": "protein_coding", "start": 74445187, "end": 74461189, "strand": "-", "slug": "ubl7" }, { "symbol": "ARID3B", "ensemblId": "ENSG00000179361", "biotype": "protein_coding", "start": 74541188, "end": 74598131, "strand": "+", "slug": "arid3b" }, { "symbol": "CLK3", "ensemblId": "ENSG00000179335", "biotype": "protein_coding", "start": 74598500, "end": 74645468, "strand": "+", "slug": "clk3" }, { "symbol": "EDC3", "ensemblId": "ENSG00000179151", "biotype": "protein_coding", "start": 74630557, "end": 74696292, "strand": "-", "slug": "edc3" }, { "symbol": "CYP1A1", "ensemblId": "ENSG00000140465", "biotype": "protein_coding", "start": 74719542, "end": 74738469, "strand": "-", "slug": "cyp1a1" }, { "symbol": "CYP1A2", "ensemblId": "ENSG00000140505", "biotype": "protein_coding", "start": 74748795, "end": 74756607, "strand": "+", "slug": "cyp1a2" }, { "symbol": "CSK", "ensemblId": "ENSG00000103653", "biotype": "protein_coding", "start": 74782023, "end": 74804177, "strand": "+", "slug": "csk" }, { "symbol": "LMAN1L", "ensemblId": "ENSG00000140506", "biotype": "protein_coding", "start": 74812716, "end": 74825758, "strand": "+", "slug": "lman1l" }, { "symbol": "CPLX3", "ensemblId": "ENSG00000213578", "biotype": "protein_coding", "start": 74826594, "end": 74831802, "strand": "+", "slug": "cplx3" }, { "symbol": "ULK3", "ensemblId": "ENSG00000140474", "biotype": "protein_coding", "start": 74836116, "end": 74843346, "strand": "-", "slug": "ulk3" }, { "symbol": "SCAMP2", "ensemblId": "ENSG00000140497", "biotype": "protein_coding", "start": 74843728, "end": 74873374, "strand": "-", "slug": "scamp2" }, { "symbol": "FAM219B", "ensemblId": "ENSG00000178761", "biotype": "protein_coding", "start": 74892175, "end": 74907331, "strand": "-", "slug": "fam219b" }, { "symbol": "COX5A", "ensemblId": "ENSG00000178741", "biotype": "protein_coding", "start": 74919594, "end": 74939351, "strand": "-", "slug": "cox5a" }, { "symbol": "RPP25", "ensemblId": "ENSG00000178718", "biotype": "protein_coding", "start": 74954418, "end": 74956772, "strand": "-", "slug": "rpp25" }, { "symbol": "SCAMP5", "ensemblId": "ENSG00000198794", "biotype": "protein_coding", "start": 74957219, "end": 75021497, "strand": "+", "slug": "scamp5" }, { "symbol": "PPCDC", "ensemblId": "ENSG00000138621", "biotype": "protein_coding", "start": 75023550, "end": 75117462, "strand": "+", "slug": "ppcdc" }, { "symbol": "PRMT2IP", "ensemblId": "ENSG00000167173", "biotype": "protein_coding", "start": 75195623, "end": 75212169, "strand": "+", "slug": "prmt2ip" }, { "symbol": "GOLGA6C", "ensemblId": "ENSG00000167195", "biotype": "protein_coding", "start": 75258334, "end": 75273455, "strand": "+", "slug": "golga6c" }, { "symbol": "GOLGA6D", "ensemblId": "ENSG00000140478", "biotype": "protein_coding", "start": 75282835, "end": 75295530, "strand": "+", "slug": "golga6d" }, { "symbol": "COMMD4", "ensemblId": "ENSG00000140365", "biotype": "protein_coding", "start": 75336000, "end": 75343224, "strand": "+", "slug": "commd4" }, { "symbol": "NEIL1", "ensemblId": "ENSG00000140398", "biotype": "protein_coding", "start": 75346878, "end": 75357115, "strand": "+", "slug": "neil1" }, { "symbol": "MAN2C1", "ensemblId": "ENSG00000140400", "biotype": "protein_coding", "start": 75355207, "end": 75368656, "strand": "-", "slug": "man2c1" }, { "symbol": "SIN3A", "ensemblId": "ENSG00000169375", "biotype": "protein_coding", "start": 75369379, "end": 75455842, "strand": "-", "slug": "sin3a" } ], "truncated": false }, "reports": [ { "slug": "disorder-of-glycosylation", "name": "Wrodzone zaburzenia glikozylacji", "diseases": [ { "mondoId": "MONDO:0011257", "name": "MPI-CDG (niedobór izomerazy fosfomannozowej)", "genes": 1, "inheritance": "autosomal-recessive", "description": "Wrodzone zaburzenie glikozylacji wywołane wariantami w genie MPI, głównie dotyczące jelit i wątroby, powodujące enteropatię utraty białka, niski poziom cukru we krwi i problemy z krzepnięciem, zwykle bez niepełnosprawności intelektualnej.", "management": "Doustne suplementy mannozy korygują większość objawów, dlatego wczesne rozpoznanie jest ważne.", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Myriad Women's Health", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0015286", "name": "Wrodzone zaburzenia glikozylacji (CDG)", "genes": 98, "inheritance": null, "description": "Duża grupa dziedzicznych schorzeń, w których łańcuchy cukrowe (glikany) są nieprawidłowo budowane lub przyłączane do białek i lipidów, często wpływając na mózg, wątrobę, krzepnięcie krwi, wzrost i wiele innych układów organizmu. Większość ma dziedziczenie autosomalne recesywne, ale niektóre są sprzężone z chromosomem X lub autosomalne dominujące.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Myriad Women's Health", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/pl/conditions/disorder-of-glycosylation" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-thrombosis", "name": "Abnormal blood clot", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-thrombosis" }, { "slug": "abnormal-circulating-enzyme-concentration-or-activity", "name": "Abnormal circulating enzyme concentration or activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-circulating-enzyme-concentration-or-activity" }, { "slug": "abnormality-of-the-coagulation-cascade", "name": "Abnormality of the coagulation cascade", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-coagulation-cascade" }, { "slug": "abnormality-of-the-nervous-system", "name": "Abnormality of the nervous system", "systems": [], "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system" }, { "slug": "abnormal-bleeding", "name": "Bleeding tendency", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/abnormal-bleeding" }, { "slug": "renal-cyst", "name": "Cystic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/renal-cyst" }, { "slug": "decreased-liver-function", "name": "Decreased liver function", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-liver-function" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "steatorrhea", "name": "Fat in feces", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/steatorrhea" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/edema" }, { "slug": "gastrointestinal-hemorrhage", "name": "Gastrointestinal bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "hepatic-fibrosis", "name": "Hepatic fibrosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatic-fibrosis" }, { "slug": "hyperinsulinemic-hypoglycemia", "name": "Hyperinsulinemic hypoglycemia", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperinsulinemic-hypoglycemia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "hepatic-failure", "name": "Liver failure", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatic-failure" }, { "slug": "hypoalbuminemia", "name": "Low albumin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoalbuminemia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "lymphangiectasis", "name": "Lymphangiectasis", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/lymphangiectasis" }, { "slug": "portal-hypertension", "name": "Portal hypertension", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/portal-hypertension" }, { "slug": "protein-losing-enteropathy", "name": "Protein-losing enteropathy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/protein-losing-enteropathy" }, { "slug": "proximal-tubulopathy", "name": "Proximal tubulopathy", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/proximal-tubulopathy" }, { "slug": "reduced-antithrombin-antigen", "name": "Reduced antithrombin antigen", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/reduced-antithrombin-antigen" }, { "slug": "reduced-antithrombin-iii-activity", "name": "Reduced antithrombin III activity", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/reduced-antithrombin-iii-activity" }, { "slug": "reduced-factor-xi-activity", "name": "Reduced factor XI activity", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-factor-xi-activity" }, { "slug": "reduced-protein-c-activity", "name": "Reduced protein C activity", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-protein-c-activity" }, { "slug": "reduced-protein-s-activity", "name": "Reduced protein S activity", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-protein-s-activity" }, { "slug": "reduced-tissue-phosphomannose-isomerase-activity", "name": "Reduced tissue phosphomannose isomerase activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-tissue-phosphomannose-isomerase-activity" }, { "slug": "cirrhosis", "name": "Scar tissue replaces healthy tissue in the liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cirrhosis" }, { "slug": "type-i-transferrin-isoform-profile", "name": "Type I transferrin isoform profile", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/type-i-transferrin-isoform-profile" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypothyroidism" }, { "slug": "villous-atrophy", "name": "Villous atrophy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/villous-atrophy" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/vomiting" } ], "related": [ { "slug": "a4galt", "symbol": "A4GALT", "name": "alpha 1,4-galactosyltransferase (P1PK blood group)", "shared": 1, "url": "https://dantelabs.com/pl/genes/a4galt" }, { "slug": "alg1", "symbol": "ALG1", "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/pl/genes/alg1" }, { "slug": "alg11", "symbol": "ALG11", "name": "ALG11 alpha-1,2-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/pl/genes/alg11" }, { "slug": "alg12", "symbol": "ALG12", "name": "ALG12 alpha-1,6-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/pl/genes/alg12" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/pl/genes/alg13" }, { "slug": "alg14", "symbol": "ALG14", "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/pl/genes/alg14" }, { "slug": "alg2", "symbol": "ALG2", "name": "ALG2 alpha-1,3/1,6-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/pl/genes/alg2" }, { "slug": "alg3", "symbol": "ALG3", "name": "ALG3 alpha-1,3- mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/pl/genes/alg3" }, { "slug": "alg6", "symbol": "ALG6", "name": "ALG6 alpha-1,3-glucosyltransferase", "shared": 1, "url": "https://dantelabs.com/pl/genes/alg6" }, { "slug": "alg8", "symbol": "ALG8", "name": "ALG8 alpha-1,3-glucosyltransferase", "shared": 1, "url": "https://dantelabs.com/pl/genes/alg8" }, { "slug": "alg9", "symbol": "ALG9", "name": "ALG9 alpha-1,2-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/pl/genes/alg9" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/atp6ap1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }