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Copyright V. Ventruto / A. Di Luccio Genus database 7490 diabetes mellitus, insulin-dependent 1 Eponyms: Inheritance: diabetes mellitus type 1 diabetes mellitus immune-mediate diabetes mellitus juvenile type diabetes mellitus ketosis-prone type IDDM1 JOD juvenile onset diabetes genetic heterogeneity multifactorial supposed autosomal recessive Semeiological Metabolic disorder, isolated defect. Juvenile onset, polyuria, polydipsia, antibodies to pancreatic islet beta cells, ketoacidosis, vascular changes, increased in autoimmuno diseases. Incidence in the general Synthesis: population: 1 in 300 births. Genetic risk: sib of isolated case: 6%; offspring of isolated case: 4%; sib, no shared HLA: 1%; sib, shared HLA: 16%; monozygous co-twin affected: 33%. Group Sub group Signs: ENDOCRINOLOGICAL, METABOLIC DISORDERS pancreas, islet modified functions pancreas, islet dysfunction LABORATORY DATA biochemical markers HLA association HLA B8 HLA DQw2 HLA DR3 HLA DR4 metabolic defect chromosomal assignment chromosome 11q localization chromosome 6p localization chromosome Xq localization gene, structural-functional anomalies gene analysis-DNA analysis IDDM1 insulin-dependent diabetes mellitus-1, gene chr.6p21.3 LAMP2 (LAMPB) lysosome-associated membrane protein-2, gene chr.Xq24 plasma nonprotein-organic constituents, anomalies carbohydrates disorders diabetes, insulin dependent hyperglycemia ketosis, ketoacidosis organic acids, high levels plasma proteins, anomalies autoantibody, high titer autoimmune disorders immune and immune-complex disease inhibin-A maternal serum , low levels thyroid hormones, modified functions anti-thyroid auto-antibodies tissue, biochemical changes metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis urine, constituent changes glycosuria, glucosuria, other carbohydrates OCULAR DISORDERS choroidoretinal defects retinal folds OTHERS diabetes mellitus, insulin-dependent 1 Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database inheritance inheritance, genetic heterogeneity inheritance, multifactorial UROLOGICAL DISORDERS renal dysfunctions polyuria Super group: Super aggreg. DIABETES diabetes, insulin dependent Aggregations: HLA SYSTEM HLA, class I HLA, class II METABOLIC DISORDERS carbohydrates, disorders immune and immune-complex diseases metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis OTHER autoimmune disorders Differential diagnosis: 9959 Currie syndrome 27933 diabete mellitus, insulin-dependent 4 27927 diabetes mellitus, noninsulin-dependent III, IV,VI 27951 diabetes mellitus noninsulin-dependent II, glucokinase-related 7500 diabetes mellitus II, noninsulin-dependent 27939 diabetes mellitus, insulin-dependent 11 27940 diabetes mellitus, insulin-dependent 12 27941 diabetes mellitus, insulin-dependent 13 27942 diabetes mellitus, insulin-dependent 15 28023 diabetes mellitus, insulin-dependent 2 27952 diabetes mellitus, insulin-dependent 3 27934 diabetes mellitus, insulin-dependent 5 27935 diabetes mellitus, insulin-dependent 6 27936 diabetes mellitus, insulin-dependent 7 27937 diabetes mellitus, insulin-dependent 8 27938 diabetes mellitus, insulin-dependent10 28753 dorsal pancreas agenesis 11940 hemochromatosis, type 1 12895 hyperproinsulinemia 13375 insulinoma 19270 ornithine transcarbamylase deficiency 20490 pentosuria 11060 renal glycosuria 26930 Wolcott-Rallison syndrome 26950 Wolfram syndrome 27924 Wolfram syndrome, mitochondrial form Aggregation(s) [in differential diagnosis]: - diabetes, insulin dependent Bibliography OMIM ID: 222100 Thompson&Thompson: Genetica in Medicina. Idelson-Gnocchi Ed. 2005, pag.li-liii Peter S.Harper: Practical Genetic Counselling. 6th Ed. 2004 pag. 301-302 Atlas of Ophthalmology- Images and Tables. Ed.Richard K.Parrish II, 1999 J. Med. Genet. 37,186-191,2000 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.1773,2007 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.17631776,2007 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.19802022,2007 diabetes mellitus, insulin-dependent 1 Page 2 of 2
