Alexander Disease: Living Well with Genetics disease
Alexander Disease, also known as alexander's disease, is related to leukodystrophy and multiple system atrophy 1, and has symptoms including muscle spasticity and seizures. An important gene associated with Alexander Disease is GFAP (Glial Fibrillary Acidic Protein), and among its related pathways/superpathways are Signaling by Receptor ...
Understanding Hypobetalipoproteinemia: Genetic Insights and Care disease
Hypobetalipoproteinemia, Familial, 1, also known as hypobetalipoproteinemia, is related to chylomicron retention disease and abetalipoproteinemia, and has symptoms including ataxia An important gene associated with Hypobetalipoproteinemia, Familial, 1 is APOB (Apolipoprotein B), and among its related pathways/superpathways are Metabolism and ...
Elevate Your Frank-Ter Haar Syndrome Care: Lifestyle Tips disease
Frank-Ter Haar Syndrome, also known as ter haar syndrome, is related to melnick-needles syndrome and megalocornea. An important gene associated with Frank-Ter Haar Syndrome is SH3PXD2B (SH3 And PX Domains 2B), and among its related pathways/superpathways are Signal Transduction and Signaling by Rho GTPases. Affiliated tissues include bone, ...
Living with MCTD: Healthy Habits and Care disease
Mixed Connective Tissue Disease, also known as sharp syndrome, is related to raynaud disease and systemic scleroderma. An important gene associated with Mixed Connective Tissue Disease is SNRNP70 (Small Nuclear Ribonucleoprotein U1 Subunit 70), and among its related pathways/superpathways are MIF Mediated Glucocorticoid Regulation and ...
Understanding Treacher Collins Syndrome disease
Treacher Collins Syndrome 1, also known as treacher collins syndrome, is related to acrofacial dysostosis 1, nager type and acrofacial dysostosis, cincinnati type. An important gene associated with Treacher Collins Syndrome 1 is TCOF1 (Treacle Ribosome Biogenesis Factor 1), and among its related pathways/superpathways are Pyrimidine ...