{ "url": "https://dantelabs.com/nl/genes/hnf4a", "gene": { "slug": "hnf4a", "symbol": "HNF4A", "name": "hepatocyte nuclear factor 4 alpha", "hgnc": "HGNC:5024", "summary": null, "location": "20q13.12", "locusType": "gene with protein product", "aliases": [ "NR2A1", "HNF4" ], "previousSymbols": [ "TCF14", "MODY", "MODY1" ], "ensemblId": "ENSG00000101076", "entrezId": 3172, "omim": [ "600281" ], "uniprot": [ "P41235" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "20", "start": 44355699, "end": 44432845, "strand": "+", "ensemblTranscript": "ENST00000316673.9", "refseqTranscript": "NM_175914.5", "ensemblProtein": "ENSP00000315180.4", "refseqProtein": "NP_787110.2", "exons": [ { "start": 44355699, "end": 44355853 }, { "start": 44406058, "end": 44406232 }, { "start": 44407381, "end": 44407475 }, { "start": 44413694, "end": 44413800 }, { "start": 44414507, "end": 44414662 }, { "start": 44418425, "end": 44418512 }, { "start": 44419721, "end": 44419876 }, { "start": 44424018, "end": 44424254 }, { "start": 44428335, "end": 44428487 }, { "start": 44429523, "end": 44432845 } ], "cds": { "start": 44355805, "end": 44429665 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "20", "start": 42984340, "end": 43061485, "strand": "+" }, "neighbourhood": { "release": "116", "start": 43894272, "end": 44894271, "genes": [ { "symbol": "TOX2", "ensemblId": "ENSG00000124191", "biotype": "protein_coding", "start": 43914802, "end": 44069616, "strand": "+", "slug": "tox2" }, { "symbol": "JPH2", "ensemblId": "ENSG00000149596", "biotype": "protein_coding", "start": 44097006, "end": 44189032, "strand": "-", "slug": "jph2" }, { "symbol": "OSER1", "ensemblId": "ENSG00000132823", "biotype": "protein_coding", "start": 44195939, "end": 44219957, "strand": "-", "slug": "oser1" }, { "symbol": "GDAP1L1", "ensemblId": "ENSG00000124194", "biotype": "protein_coding", "start": 44247099, "end": 44280947, "strand": "+", "slug": "gdap1l1" }, { "symbol": "FITM2", "ensemblId": "ENSG00000197296", "biotype": "protein_coding", "start": 44289046, "end": 44311257, "strand": "-", "slug": "fitm2" }, { "symbol": "R3HDML", "ensemblId": "ENSG00000101074", "biotype": "protein_coding", "start": 44337043, "end": 44351238, "strand": "+", "slug": "r3hdml" }, { "symbol": "TTPAL", "ensemblId": "ENSG00000124120", "biotype": "protein_coding", "start": 44470527, "end": 44494604, "strand": "+", "slug": "ttpal" }, { "symbol": "SERINC3", "ensemblId": "ENSG00000132824", "biotype": "protein_coding", "start": 44494494, "end": 44522110, "strand": "-", "slug": "serinc3" }, { "symbol": "PKIG", "ensemblId": "ENSG00000168734", "biotype": "protein_coding", "start": 44531748, "end": 44624819, "strand": "+", "slug": "pkig" }, { "symbol": "ADA", "ensemblId": "ENSG00000196839", "biotype": "protein_coding", "start": 44584896, "end": 44652252, "strand": "-", "slug": "ada" }, { "symbol": "CCN5", "ensemblId": "ENSG00000064205", "biotype": "protein_coding", "start": 44714270, "end": 44728731, "strand": "+", "slug": "ccn5" }, { "symbol": "KCNK15", "ensemblId": "ENSG00000124249", "biotype": "protein_coding", "start": 44745785, "end": 44752677, "strand": "+", "slug": "kcnk15" }, { "symbol": "RIMS4", "ensemblId": "ENSG00000101098", "biotype": "protein_coding", "start": 44751808, "end": 44810556, "strand": "-", "slug": "rims4" }, { "symbol": "YWHAB", "ensemblId": "ENSG00000166913", "biotype": "protein_coding", "start": 44885676, "end": 44908715, "strand": "+", "slug": "ywhab" } ], "truncated": false }, "reports": [ { "slug": "diabetes-mellitus", "name": "Diabetes mellitus", "diseases": [ { "mondoId": "MONDO:0005015", "name": "Diabetes mellitus", "genes": 31, "inheritance": null, "description": "Een stofwisselingsstoornis die wordt gekenmerkt door abnormaal hoge bloedsuikerspiegels als gevolg van verminderde insulineproductie of insulineresistentie/-ongevoeligheid.", "management": "Teplizumab (Tzield) voor presymptomatisch T1D in stadium 2 (door de FDA goedgekeurd in 2022); insulinevervanging bij klinisch begin van T1D; TrialNet-screening op autoantilichamen bij risicovolle familieleden; closed-loop-systemen voor insulinetoediening", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ], "actionability": 10 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/diabetes-mellitus" }, { "slug": "fanconi-renotubular-syndrome-renal-glucosuria", "name": "Renotubulair syndroom van Fanconi en renale glucosurie", "diseases": [ { "mondoId": "MONDO:0100238", "name": "Erfelijk renotubulair syndroom van Fanconi", "genes": 3, "inheritance": null, "description": "Een groep erfelijke aandoeningen van de proximale nierbuisjes, veroorzaakt door genen zoals GATM, EHHADH en HNF4A, waarbij veel stoffen via de urine verloren gaan. Dit kan de botten en de nierfunctie beïnvloeden.", "management": "Als u dit weet, kan de nierfunctie en de botgezondheid worden gecontroleerd en kunnen verloren mineralen waar nodig worden aangevuld.", "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/fanconi-renotubular-syndrome-renal-glucosuria" }, { "slug": "maturity-onset-diabetes-of-the-young", "name": "Maturity-Onset Diabetes Of The Young", "diseases": [ { "mondoId": "MONDO:0018911", "name": "Maturity-Onset Diabetes Of The Young", "genes": 12, "inheritance": "autosomal-dominant", "description": "MODY (maturity-onset diabetes of the young) is een zeldzame, familiaire en klinisch en genetisch heterogene vorm van diabetes, gekenmerkt door een jonge leeftijd bij het begin (meestal tussen 10 en 45 jaar), met behoud van de eigen insulineproductie, geen bètacelautoimmuniteit in de alvleesklier, geen obesitas en geen insulineresistentie, en bij sommige subtypes extrapancreatische verschijnselen.", "management": "GCK-MODY: geen behandeling nodig; HNF1A/HNF4A-MODY: sulfonylureumderivaten in lage dosis; HNF1B-MODY: insuline en monitoring van de nierfunctie; T2D polygeen: leefstijlaanpassing, metformine, GLP-1-receptoragonisten en SGLT2-remmers, afhankelijk van het profiel van bijkomende aandoeningen", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ], "actionability": 10 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/maturity-onset-diabetes-of-the-young" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-circulating-c-peptide-concentration", "name": "Abnormal circulating C-peptide concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-c-peptide-concentration" }, { "slug": "abnormal-circulating-fatty-acid-concentration", "name": "Abnormal circulating fatty acid concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-fatty-acid-concentration" }, { "slug": "abnormal-circulating-insulin-concentration", "name": "Abnormal circulating insulin concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-insulin-concentration" }, { "slug": "abnormal-oral-glucose-tolerance", "name": "Abnormal oral glucose tolerance", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-oral-glucose-tolerance" }, { "slug": "aminoaciduria", "name": "Abnormal urinary amino-acid findings", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/aminoaciduria" }, { "slug": "abnormality-of-the-genitourinary-system", "name": "Abnormality of the genitourinary system", "systems": [], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system" }, { "slug": "abnormality-of-the-kidney", "name": "Abnormality of the kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormality-of-the-kidney" }, { "slug": "agitation", "name": "Agitation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/agitation" }, { "slug": "autoimmune-antibody-positivity", "name": "Autoimmune antibody positivity", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/autoimmune-antibody-positivity" }, { "slug": "large-for-gestational-age", "name": "Birth weight > 90th percentile", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/large-for-gestational-age" }, { "slug": "insulin-resistance", "name": "Body fails to respond to insulin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/insulin-resistance" }, { "slug": "coma", "name": "Coma", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/coma" }, { "slug": "renal-cyst", "name": "Cystic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/renal-cyst" }, { "slug": "acanthosis-nigricans", "name": "Darkened and thickened skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/acanthosis-nigricans" }, { "slug": "diabetes-mellitus", "name": "Diabetes mellitus", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diabetes-mellitus" }, { "slug": "diabetic-ketoacidosis", "name": "Diabetic ketoacidosis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/diabetic-ketoacidosis" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "drowsiness", "name": "Drowsiness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/drowsiness" }, { "slug": "elevated-circulating-alkaline-phosphatase-concentration", "name": "Elevated alkaline phosphatase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration" }, { "slug": "tachycardia", "name": "Elevated heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/tachycardia" }, { "slug": "elevated-hemoglobin-a1c", "name": "Elevated hemoglobin A1c", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-hemoglobin-a1c" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "hyperhidrosis", "name": "Excessive sweating", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperhidrosis" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "flushing", "name": "Flushing", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/flushing" }, { "slug": "glycosuria", "name": "Glucose in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/glycosuria" }, { "slug": "glucose-intolerance", "name": "Glucose intolerance", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/glucose-intolerance" }, { "slug": "hepatocellular-adenoma", "name": "Hepatocellular adenoma", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hepatocellular-adenoma" }, { "slug": "hyperglycemia", "name": "High blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperglycemia" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "hyperphosphaturia", "name": "High urine phosphate levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/hyperphosphaturia" }, { "slug": "proteinuria", "name": "High urine protein levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proteinuria" }, { "slug": "hyperinsulinemia", "name": "Hyperinsulinemia", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperinsulinemia" }, { "slug": "hyperinsulinemic-hypoglycemia", "name": "Hyperinsulinemic hypoglycemia", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperinsulinemic-hypoglycemia" }, { "slug": "hypoinsulinemia", "name": "Hypoinsulinemia", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoinsulinemia" }, { "slug": "hypoketotic-hypoglycemia", "name": "Hypoketotic hypoglycemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoketotic-hypoglycemia" }, { "slug": "hypophosphatemic-rickets", "name": "Hypophosphatemic rickets", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypophosphatemic-rickets" }, { "slug": "exocrine-pancreatic-insufficiency", "name": "Inability to properly digest food due to lack of pancreatic digestive enzymes", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/exocrine-pancreatic-insufficiency" }, { "slug": "increased-body-weight", "name": "Increased body weight", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-body-weight" }, { "slug": "nephrocalcinosis", "name": "Increased calcium level in kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/nephrocalcinosis" }, { "slug": "increased-hepatic-glycogen-content", "name": "Increased hepatic glycogen content", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-hepatic-glycogen-content" }, { "slug": "increased-waist-to-hip-ratio", "name": "Increased waist to hip ratio", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/increased-waist-to-hip-ratio" }, { "slug": "insulin-resistant-diabetes-mellitus", "name": "Insulin resistant diabetes", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/insulin-resistant-diabetes-mellitus" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "nephropathy", "name": "Kidney damage", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nephropathy" }, { "slug": "lethargy", "name": "Lethargy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lethargy" }, { "slug": "hypophosphatemia", "name": "Low blood phosphate level", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypophosphatemia" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "neonatal-hypoglycemia", "name": "Low blood sugar in newborn", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/neonatal-hypoglycemia" }, { "slug": "fasting-hypoglycemia", "name": "Low blood sugar when fasting", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fasting-hypoglycemia" }, { "slug": "hypouricemia", "name": "Low blood uric acid levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypouricemia" }, { "slug": "neonatal-hypotonia", "name": "Low muscle tone, in neonatal onset", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/neonatal-hypotonia" }, { "slug": "maturity-onset-diabetes-of-the-young", "name": "Maturity-onset diabetes of the young", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/maturity-onset-diabetes-of-the-young" }, { "slug": "metabolic-acidosis", "name": "Metabolic acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/metabolic-acidosis" }, { "slug": "metabolic-ketoacidosis", "name": "Metabolic ketoacidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/metabolic-ketoacidosis" }, { "slug": "retinopathy", "name": "Noninflammatory retina disease", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinopathy" }, { "slug": "type-ii-diabetes-mellitus", "name": "Noninsulin-dependent diabetes", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/type-ii-diabetes-mellitus" }, { "slug": "obesity", "name": "Obesity", "systems": [ "growth-abnormality" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/obesity" }, { "slug": "overweight", "name": "Overweight", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/overweight" }, { "slug": "pallor", "name": "Paleness", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pallor" }, { "slug": "pancreatic-islet-cell-hyperplasia", "name": "Pancreatic islet-cell hyperplasia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pancreatic-islet-cell-hyperplasia" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "renal-fanconi-syndrome", "name": "Renal Fanconi syndrome", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/renal-fanconi-syndrome" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/short-stature" }, { 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