L-2-Hydroxyglutaric Aciduria: A Comprehensive Look disease
L-2-Hydroxyglutaric Aciduria, also known as l-2-hydroxyglutaric acidemia, is related to combined d-2- and l-2-hydroxyglutaric aciduria and d-2-hydroxyglutaric aciduria 1, and has symptoms including seizures, abnormal pyramidal signs and abnormality of extrapyramidal motor function. An important gene associated with L-2-Hydroxyglutaric ...
Understanding Smoldering Myeloma: Causes, Symptoms, and Care disease
Smoldering Myeloma is related to immunoglobulin light chain amyloidosis and chromosome 13q14 deletion syndrome, and has symptoms including bone pain An important gene associated with Smoldering Myeloma is MYOM2 (Myomesin 2), and among its related pathways/superpathways are NF-kappaB Signaling and Immunoregulatory interactions between a ...
Understanding Polymyositis: Autoimmune Muscle Disorder disease
Polymyositis, also known as pm - [polymyositis], is related to inclusion body myositis and interstitial lung disease. An important gene associated with Polymyositis is RN7SL1 (RNA Component Of Signal Recognition Particle 7SL1), and among its related pathways/superpathways are miRNAs involved in DNA damage response and miRNAs involvement in ...
Understanding Acute Generalized Exanthematous Pustulosis disease
Acute Generalized Exanthematous Pustulosis, also known as agep, is related to exanthem and psoriasis 11. An important gene associated with Acute Generalized Exanthematous Pustulosis is IL36RN (Interleukin 36 Receptor Antagonist), and among its related pathways/superpathways are Innate Immune System and MIF Mediated Glucocorticoid Regulation. ...
Managing Dominant Optic Atrophy: A Lifestyle Guide disease
Optic Atrophy 1, also known as optic atrophy type 1, is related to optic atrophy 5 and optic atrophy 11. An important gene associated with Optic Atrophy 1 is OPA1 (OPA1 Mitochondrial Dynamin Like GTPase), and among its related pathways/superpathways is Programmed Cell Death. Affiliated tissues include eye, retina and brain, and related ...