{ "url": "https://dantelabs.com/ro/genes/neurod1", "gene": { "slug": "neurod1", "symbol": "NEUROD1", "name": "neuronal differentiation 1", "hgnc": "HGNC:7762", "summary": null, "location": "2q31.3", "locusType": "gene with protein product", "aliases": [ "BETA2", "BHF-1", "NeuroD", "bHLHa3", "MODY6" ], "previousSymbols": [ "NEUROD" ], "ensemblId": "ENSG00000162992", "entrezId": 4760, "omim": [ "601724" ], "uniprot": [ "Q13562" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 181676467, "end": 181680517, "strand": "-", "ensemblTranscript": "ENST00000295108.4", "refseqTranscript": "NM_002500.5", "ensemblProtein": "ENSP00000295108.3", "refseqProtein": "NP_002491.3", "exons": [ { "start": 181676467, "end": 181678871 }, { "start": 181680430, "end": 181680517 } ], "cds": { "start": 181677790, "end": 181678860 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 182537815, "end": 182545603, "strand": "-" }, "neighbourhood": { "release": "116", "start": 181178492, "end": 182178491, "genes": [ { "symbol": "ITGA4", "ensemblId": "ENSG00000115232", "biotype": "protein_coding", "start": 181457014, "end": 181538940, "strand": "+", "slug": "itga4" }, { "symbol": "CERKL", "ensemblId": "ENSG00000188452", "biotype": "protein_coding", "start": 181535041, "end": 181680665, "strand": "-", "slug": "cerkl" }, { "symbol": "ITPRID2", "ensemblId": "ENSG00000138434", "biotype": "protein_coding", "start": 181841292, "end": 181930738, "strand": "+", "slug": "itprid2" }, { "symbol": "PPP1R1C", "ensemblId": "ENSG00000150722", "biotype": "protein_coding", "start": 181954241, "end": 182131398, "strand": "+", "slug": "ppp1r1c" }, { "symbol": "PDE1A", "ensemblId": "ENSG00000115252", "biotype": "protein_coding", "start": 182139968, "end": 182523359, "strand": "-", "slug": "pde1a" } ], "truncated": false }, "reports": [ { "slug": "diabetes-mellitus", "name": "Diabet zaharat", "diseases": [ { "mondoId": "MONDO:0005015", "name": "Diabet zaharat", "genes": 31, "inheritance": null, "description": "Tulburare metabolică caracterizată prin valori anormal de ridicate ale glicemiei, din cauza producției reduse de insulină sau a rezistenței/desensibilizării la insulină.", "management": "Teplizumab (Tzield) pentru DZ1 presimptomatic în stadiul 2 (aprobat de FDA în 2022); substituție cu insulină la debutul clinic al DZ1; screening pentru autoanticorpi în cadrul TrialNet la rudele cu risc crescut; sisteme de administrare a insulinei în buclă închisă", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/diabetes-mellitus" }, { "slug": "maturity-onset-diabetes-of-the-young", "name": "Diabetul zaharat de tip MODY (Maturity-Onset Diabetes of the Young)", "diseases": [ { "mondoId": "MONDO:0018911", "name": "Diabetul zaharat de tip MODY (Maturity-Onset Diabetes of the Young)", "genes": 12, "inheritance": "autosomal-dominant", "description": "MODY (diabetul zaharat cu debut la vârsta adultă la tineri) este o formă rară, familială, heterogenă din punct de vedere clinic și genetic, de diabet, caracterizată prin debut la vârstă tânără (în general între 10 și 45 de ani), cu păstrarea producției endogene de insulină, absența autoimunității celulelor beta pancreatice, absența obezității și a rezistenței la insulină și, la unele subtipuri, manifestări extrapancreatice.", "management": "MODY-GCK: nu este necesar tratament; MODY-HNF1A/HNF4A: sulfoniluree în doze mici; MODY-HNF1B: insulină și monitorizare renală; DZ2 poligenic: modificarea stilului de viață, metformină, agoniști GLP-1, inhibitori SGLT2, în funcție de profilul comorbidităților", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/maturity-onset-diabetes-of-the-young" }, { "slug": "neonatal-diabetes-mellitus", "name": "Diabetul zaharat neonatal", "diseases": [ { "mondoId": "MONDO:0016391", "name": "Diabetul zaharat neonatal", "genes": 20, "inheritance": null, "description": "Diabet diagnosticat în primele luni de viață, permanent sau tranzitoriu, cauzat de defecte ale unei singure gene care afectează producția sau secreția de insulină.", "management": "Majoritatea persoanelor cu diabet neonatal asociat cu KCNJ11 sau ABCC8 pot trece de la injecțiile cu insulină la comprimatele de sulfoniluree, adesea cu un control mai bun al glicemiei.", "evidence": { "gencc": [ "Genomics England PanelApp" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/neonatal-diabetes-mellitus" } ], "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-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": "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": "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": "occasional", "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": "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": "diabetic-ketoacidosis", "name": "Diabetic ketoacidosis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/diabetic-ketoacidosis" }, { "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": "glycosuria", "name": "Glucose in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "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": "hyperinsulinemic-hypoglycemia", "name": "Hyperinsulinemic hypoglycemia", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "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": "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-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": "nephropathy", "name": "Kidney damage", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nephropathy" }, { "slug": "neonatal-hypoglycemia", "name": "Low blood sugar in newborn", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neonatal-hypoglycemia" }, { "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": "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": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "transient-neonatal-diabetes-mellitus", "name": "Transient neonatal diabetes mellitus", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/transient-neonatal-diabetes-mellitus" }, { "slug": "pancreatic-hypoplasia", "name": "Underdeveloped pancreas", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/pancreatic-hypoplasia" } ], "related": [ { "slug": "abcc8", "symbol": "ABCC8", "name": "ATP binding cassette subfamily C member 8", "shared": 3, "url": "https://dantelabs.com/ro/genes/abcc8" }, { "slug": "gck", "symbol": "GCK", "name": "glucokinase", "shared": 3, "url": "https://dantelabs.com/ro/genes/gck" }, { "slug": "hnf1b", "symbol": "HNF1B", "name": "HNF1 homeobox B", "shared": 3, "url": "https://dantelabs.com/ro/genes/hnf1b" }, { "slug": "ins", "symbol": "INS", "name": "insulin", "shared": 3, "url": "https://dantelabs.com/ro/genes/ins" }, { "slug": "kcnj11", "symbol": "KCNJ11", "name": "potassium inwardly rectifying channel subfamily J member 11", "shared": 3, "url": "https://dantelabs.com/ro/genes/kcnj11" }, { "slug": "pdx1", "symbol": "PDX1", "name": "pancreatic and duodenal homeobox 1", "shared": 3, "url": "https://dantelabs.com/ro/genes/pdx1" }, { "slug": "appl1", "symbol": "APPL1", "name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1", "shared": 2, "url": "https://dantelabs.com/ro/genes/appl1" }, { "slug": "bscl2", "symbol": "BSCL2", "name": "BSCL2 lipid droplet biogenesis associated, seipin", "shared": 2, "url": "https://dantelabs.com/ro/genes/bscl2" }, { "slug": "cel", "symbol": "CEL", "name": "carboxyl ester lipase", "shared": 2, "url": "https://dantelabs.com/ro/genes/cel" }, { "slug": "eif2b1", "symbol": "EIF2B1", "name": "eukaryotic translation initiation factor 2B subunit alpha", "shared": 2, "url": "https://dantelabs.com/ro/genes/eif2b1" }, { "slug": "gata4", "symbol": "GATA4", "name": "GATA binding protein 4", "shared": 2, "url": "https://dantelabs.com/ro/genes/gata4" }, { "slug": "gata6", "symbol": "GATA6", "name": "GATA binding protein 6", "shared": 2, "url": "https://dantelabs.com/ro/genes/gata6" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }