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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 7500 diabetes mellitus II, noninsulin-dependent Eponyms: Inheritance: diabetes mellitus adult onset diabetes non immune-mediated HNF4A maturity-onset diabetes NIDDM1 TCF14 autosomal dominant Semeiological Metabolic disorder, isolated defect. Late onset diabetes. Polyuria, polydipsia, unexplained weight loss, fatigue, obesity, microvascular complications, including neuropathy, nephropathy, retinopathy, myocardiopathy, Synthesis: alterations in insulin behaviour. Extreme geographical variation: from 1:100 to 1:20 of the population. Genetic risk: sib of isolated case: 10%; offspring of isolated case: 10%; 1%; monozygous co-twin affected: 50%. Group Sub group Signs: ENDOCRINOLOGICAL, METABOLIC DISORDERS obesity obesity, total pancreas, islet modified functions pancreas, islet dysfunction LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 12q localization chromosome 17 localization chromosome 20q localization chromosome 2q localization gene, structural-functional anomalies gene analysis-DNA analysis GYS (GYS1) glycogen synthase, gene chr.19q13.3 NIDDM1 noninsulin-dependent diabetes mellitus common type 2, gene chr.2q NIDDM2, gene chr.12q24.2 TCF2 (HNF2) (HNF1B), gene chr.17cen-q21.3 pancreatic hormones, modified functions insulin-resistance plasma nonprotein-organic constituents, anomalies carbohydrates disorders diabetes, noninsulin-dependent hyperglycemia urine, constituent changes glycosuria, glucosuria, other carbohydrates NEUROLOGICAL DISORDERS behaviour, changes polydipsia neurological dysfunctions peripheral neuropathy, including: polyneuropathy, neuralgia OCULAR DISORDERS choroidoretinal defects retinal vascular anomalies, retinal hemorrhages, angioid streaks OTHERS inheritance inheritance, autosomal dominant supergroups endocrino-neuro disorders UROLOGICAL DISORDERS renal dysfunctions diabetes mellitus II, noninsulin-dependent Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database polyuria renal failure, including: nephritis, pyelonephritis, glomerulonephritis Super group: endocrino-neuro disorders oculo-urological disorders Super aggreg. DIABETES diabetes, insulin resistant Aggregations: diabetes, non insulin-dependent METABOLIC DISORDERS carbohydrates, disorders Differential diagnosis: Bibliography 27927 diabetes mellitus, noninsulin-dependent III, IV,VI 27951 diabetes mellitus noninsulin-dependent II, glucokinase-related 7490 diabetes mellitus, insulin-dependent 1 27948 diabetes mellitus, noninsulin-dependent 2 7495 diabetes mellitus, noninsulin-dependent I, mild juvenile 12895 hyperproinsulinemia 13375 insulinoma 8301 Nishigori syndrome 20490 pentosuria OMIM ID: 125853 OMIM ID: 601283 OMIM ID: 138570 OMIM ID: 189907 OMIM ID: 601407 Peter S.Harper: Practical Genetic Counselling. 6th Ed. 2004 pag. 304 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.19802022,2007 diabetes mellitus II, noninsulin-dependent Page 2 of 2
