Understanding Pseudohypoparathyroidism Type II disease
Pseudohypoparathyroidism, Type Ii, also known as pseudohypoparathyroidism type 2, is related to pseudohypoparathyroidism and rickets. An important gene associated with Pseudohypoparathyroidism, Type Ii is ADCY10 (Adenylate Cyclase 10). Affiliated tissues include liver, thyroid and bone, and related phenotypes are pseudohypoparathyroidism and ...
Living with Tarp Syndrome: Managing and Thriving disease
Tarp Syndrome, also known as tarps, is related to clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly and pierre robin syndrome. An important gene associated with Tarp Syndrome is RBM10 (RNA Binding Motif Protein 10), and among its related pathways/superpathways is Processing of Capped ...
Living with Desbuquois Syndrome: Management & Support disease
Desbuquois Dysplasia, also known as desbuquois syndrome, is related to desbuquois dysplasia 1 and achondrogenesis, type ib. An important gene associated with Desbuquois Dysplasia is CANT1 (Calcium Activated Nucleotidase 1), and among its related pathways/superpathways are Metabolism and Disease. Affiliated tissues include bone, bone marrow ...
Living with Inflammatory Myofibroblastic Tumor disease
Inflammatory Myofibroblastic Tumor, also known as inflammatory fibrosarcoma, is related to epithelioid inflammatory myofibroblastic sarcoma and intussusception, and has symptoms including fever and pain. An important gene associated with Inflammatory Myofibroblastic Tumor is ALK (ALK Receptor Tyrosine Kinase), and among its related ...
Elevated Methylmalonyl-CoA: Managing Diet and Lifestyle disease
Methylmalonic Aciduria, Cblb Type, also known as methylmalonic aciduria cblb type, is related to methylmalonic aciduria and homocystinuria, cblc type and isolated methylmalonic acidemia, and has symptoms including lethargy, vomiting and respiratory distress. An important gene associated with Methylmalonic Aciduria, Cblb Type is MMAB ...