Understanding Combined Malonic and Methylmalonic Aciduria disease
Combined Malonic and Methylmalonic Aciduria, also known as combined malonic and methylmalonic acidemia, is related to isolated methylmalonic acidemia and methylmalonic acidemia. An important gene associated with Combined Malonic and Methylmalonic Aciduria is ACSF3 (Acyl-CoA Synthetase Family Member 3), and among its related ...
Living with Hemophagocytic Lymphohistiocytosis: Tips for Management disease
Hemophagocytic Lymphohistiocytosis, also known as lymphohistiocytosis, hemophagocytic, is related to hemophagocytic lymphohistiocytosis, familial, 1 and hemophagocytic lymphohistiocytosis, familial, 3, and has symptoms including ataxia, hemiplegia and icterus. An important gene associated with Hemophagocytic Lymphohistiocytosis is UNC13D ...
Managing Familial Thoracic Aortic Aneurysm disease
Aortic Aneurysm, Familial Thoracic 1, also known as thoracic aortic aneurysm, is related to aortic aneurysm, familial thoracic 6 and aortic aneurysm, familial thoracic 10. An important gene associated with Aortic Aneurysm, Familial Thoracic 1 is MYH11 (Myosin Heavy Chain 11), and among its related pathways/superpathways are ERK Signaling and ...
Understanding Urea Cycle Disorders: Symptoms, Management, and Lifestyle disease
Urea Cycle Disorder, also known as urea cycle disorders, inborn, is related to carbamoyl phosphate synthetase i deficiency, hyperammonemia due to and n-acetylglutamate synthase deficiency. An important gene associated with Urea Cycle Disorder is SLC25A13 (Solute Carrier Family 25 Member 13), and among its related pathways/superpathways are ...
Living with Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome disease
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1, also known as megacystis-microcolon-intestinal hypoperistalsis syndrome, is related to visceral myopathy 1 and intestinal pseudo-obstruction. An important gene associated with Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 is MYLK (Myosin Light Chain Kinase), and among ...