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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 12770 hyperlipoproteinemia III Eponyms: Inheritance: APOE apolipoprotein E1 deficiency broad-betalipoproteinemia dysbetalipoproteinemia due to defect in apolipoprotein E-d floating betalipoproteinemia hyperbeta-prebetalipoproteinemia hypercholesterolemia-hyperlipemia hyperlipemia-hypercholesterolemic xanthomatosis supposed autosomal dominant Semeiological Cardiovasculo-cutaneous-metabolic-ocular disorder. High cholesterol/triglyceride levels, xanthoma striata palmaris, coronary/vascular disturbance, ocular defects, tuberous xanthomata. Synthesis: Group Sub group Signs: CARDIOVASCULAR DISORDERS cardiac congenital defects coronary disease, myocardial infarction, angina DERMATOLOGICAL DISORDERS cutis, nodules xantoma cutis xantoma palmar ENDOCRINOLOGICAL, METABOLIC DISORDERS obesity obesity, total thyroid, changes hypothyroidism, not including: goiter, thyroid aplasia LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 19q localization gene, structural-functional anomalies APOE apolipoprotein E, gene chr.19q13.2 gene analysis-DNA analysis plasma lipids, anomalies APOE apolipoprotein E deficiency cholesterol, high levels lipids total , high levels, hyperlipidemia lipoprotein beta, high levels lipoprotein, lipid disorders lipoproteins , high levels prebetalipoprotein, high levels plasma nonprotein-organic constituents, anomalies carbohydrates disorders diabetes mellitus in syndromic association hyperglycemia uric acid, high levels, hyperuricemia tissue, biochemical changes metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis NEUROLOGICAL DISORDERS brain anomalies brain: hemorrhage, including ischemia, strokes neurological dysfunctions axonal neuropathy hyperlipoproteinemia III Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database OCULAR DISORDERS choroidoretinal defects retinal vascular anomalies, retinal hemorrhages, angioid streaks corneal defects not including dystrophy corneal arcus, embryotoxon corneal deposits OTHERS supergroups cardio-cutaneous-oculo disorders endocrino-neuro disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data prenatal diagnosis prenatal diagnosis, molecular Super group: cardio-cutaneous-ocular disorders endocrino-neuro disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: METABOLIC DISORDERS carbohydrates, disorders lipoprotein, lipid disorders metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis OTHER axonal neuropathy diabetes, mellitus in syndromic association Differential diagnosis: Bibliography hyperlipoproteinemia III 12017 12690 12745 12742 12743 12750 12760 12761 12765 12780 12790 14932 8301 20010 20860 22275 24070 27050 hepatic lipase deficiency hypercholesterolemia hyperlipidemia combined hyperlipidemia V hyperlipidemia VI hyperlipoproteinemia IA hyperlipoproteinemia IB hyperlipoproteinemia IC hyperlipoproteinemia II hyperlipoproteinemia IV hyperlipoproteinemia V lipase deficiency combined Nishigori syndrome pancreatitis, hereditary phytosterolemia Raphael-Hyde syndrome spinal cholesterolosis xanthomatosis cerebrotendinous OMIM ID: 107741 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 447 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.13291353,2007 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.22532278,2007 Page 2 of 2
