Savannah Coleman

Hfe Hemochromatosis, also known as hfe-associated hemochromatosis, is related to hemochromatosis, type 1 and rare hereditary hemochromatosis. An important gene associated with Hfe Hemochromatosis is HFE (Homeostatic Iron Regulator), and among its related pathways/superpathways are Insulin receptor recycling and 3q29 copy number variation ...

Glut1 Deficiency Syndrome 1, also known as glucose transport defect, blood-brain barrier, is related to stomatin-deficient cryohydrocytosis with neurologic defects and glut1 deficiency syndrome 2, and has symptoms including ataxia, muscle spasticity and sleep disturbances. An important gene associated with Glut1 Deficiency Syndrome 1 is ...

Spermatogenic Failure, X-Linked, 1, also known as sertoli cell-only syndrome, is related to testicular cancer and testicular disease. An important gene associated with Spermatogenic Failure, X-Linked, 1 is CFAP47 (Cilia And Flagella Associated Protein 47), and among its related pathways/superpathways is Male infertility. Affiliated tissues ...

Congenital Short Bowel Syndrome, also known as congenital short bowel, is related to intestinal pseudo-obstruction and short bowel syndrome. An important gene associated with Congenital Short Bowel Syndrome is CLMP (CXADR Like Membrane Protein). The drugs Prucalopride and Gastrointestinal Agents have been mentioned in the context of this ...

Ellis-Van Creveld Syndrome, also known as chondroectodermal dysplasia, is related to short-rib thoracic dysplasia 10 with or without polydactyly and short-rib thoracic dysplasia 11 with or without polydactyly. An important gene associated with Ellis-Van Creveld Syndrome is EVC2 (EvC Ciliary Complex Subunit 2), and among its related ...