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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 18470 Norum disease Eponyms: Inheritance: fish-eye disease lamellar hyperlipoproteinemia LCAT lecithin cholesterol acyltransferase deficiency autosomal recessive Semeiological Hemato-oculo-urologic disorder. Corneal clouding, anemia, low HDL, high VLDL, renal failure. Synthesis: Group Sub group Signs: CARDIOVASCULAR DISORDERS peripheral vessels changes arterial occlusion, including: peripheral sclerosis, atherosclerosis, arterial fibromuscular dysplasia LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 16q localization chromosome 9p localization foetal-amniotic biochemical data lecithin-cholesterol acyltransferase , low activity (foetal) gene, structural-functional anomalies gene analysis-DNA analysis HDLC1 quantitative trait locus (QTL) on chr.9, gene chr.9p LCAT lecithin-cholesterol acyltransferase, gene chr.16q22.1 lymphoreticular system, changes histio-lymphocytes, vacuols, inclusions myelo-erythropoietic disorders anaemia, no haemolytic red cells shape, size changes, including acanthocytes plasma lipids, anomalies lipids total , high levels, hyperlipidemia lipoprotein, lipid disorders plasma proteins, anomalies high density lipoprotein cholesterol (HDLC) , low level mucoproteins, high levels tissue, biochemical changes lecithin cholesterol acyltransferase, low activity urine, constituent changes proteinuria, albuminuria OCULAR DISORDERS corneal defects not including dystrophy corneal arcus, embryotoxon corneal clouding optical nerve defects optic disc, changes, including optic disc coloboma, not including megalopapilla or inversion OTHERS inheritance inheritance, autosomal recessive PRENATAL-NEONATAL MODIFIED DATA Norum disease Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database foetal changes foetal changes, recognized by laboratory data prenatal diagnosis prenatal diagnosis, molecular UROLOGICAL DISORDERS renal dysfunctions nephrosis renal failure, including: nephritis, pyelonephritis, glomerulonephritis Super group: oculo-urological disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: METABOLIC DISORDERS lipoprotein, lipid disorders OTHER nephrosis Differential diagnosis: Bibliography Norum disease 1580 2065 5270 9775 12978 6184 22307 analphalipoproteinemia apolipoprotein AI/CIII deficiency cholesteryl ester storage disease fish-eye disease hypoalphalipoproteinemia A-1 microcoria-congenital nephrosis syndrome red cell phospholipid defect OMIM ID: 245900 OMIM ID: 606967 OMIM ID: 606613 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.22532278,2007 Page 2 of 2
