Managing Cholesterol in HMGCS2 Deficiency disease
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency, also known as 3-hydroxy-3-methylglutaryl-coa synthase deficiency, is related to hmg coa synthetase deficiency and hypertriglyceridemia 1, and has symptoms including diarrhea and vomiting. An important gene associated with 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency is HMGCS2 ...
Mucolipidosis II: Treatment and Lifestyle disease
Mucolipidosis Ii Alpha/beta, also known as i-cell disease, is related to mucolipidosis iii gamma and mucolipidoses. An important gene associated with Mucolipidosis Ii Alpha/beta is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta), and among its related pathways/superpathways are Metabolism and Sphingolipid ...
Papillorenal Syndrome: Diet and Lifestyle disease
Papillorenal Syndrome, also known as renal coloboma syndrome, is related to coloboma of optic nerve and scleral staphyloma. An important gene associated with Papillorenal Syndrome is PAX2 (Paired Box 2), and among its related pathways/superpathways are Nervous system development and Embryonic and Induced Pluripotent Stem Cells and ...
Kallmann Syndrome: Fertility and Lifestyle disease
Hypogonadotropic Hypogonadism 1 with or Without Anosmia, also known as dysplasia olfactogenitalis of de morsier, is related to hypogonadotropic hypogonadism 23 with or without anosmia and normosmic congenital hypogonadotropic hypogonadism. An important gene associated with Hypogonadotropic Hypogonadism 1 with or Without Anosmia is ANOS1 ...
Understanding Retinal Arterial Macroaneurysm disease
Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis, also known as familial retinal arterial macroaneurysm, is related to macular retinal edema and atherosclerosis susceptibility. An important gene associated with Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis is IGFBP7 (Insulin Like Growth Factor Binding ...