Understanding 3MCP Deficiency and Its Impact disease
3-Methylcrotonyl-Coa Carboxylase Deficiency, also known as 3-methylcrotonylglycinuria, is related to abdominal obesity-metabolic syndrome 1 and reye syndrome, and has symptoms including muscular hypotonia, muscular atrophy and feeding difficulties. An important gene associated with 3-Methylcrotonyl-Coa Carboxylase Deficiency is MCCC1 ...
Managing GNE Myopathy: Lifestyle Tips disease
Nonaka Myopathy, also known as gne myopathy, is related to myopathy, myofibrillar, 9, with early respiratory failure and progressive muscular atrophy. An important gene associated with Nonaka Myopathy is GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase). The drugs Glucosamine and Azacitidine have been mentioned in the ...
Schuurs-Hoeijmakers Syndrome: A Rare Neuroautoimmune Disorder disease
Pacs1 Neurodevelopmental Disorder, also known as schuurs-hoeijmakers syndrome, is related to coloboma of macula and coloboma of optic nerve.
Living with Usher Syndrome Type IIC: Key Lifestyle Tips disease
Usher Syndrome, Type Iic, also known as usher syndrome type 2c, is related to usher syndrome, type iia and usher syndrome. An important gene associated with Usher Syndrome, Type Iic is ADGRV1 (Adhesion G Protein-Coupled Receptor V1), and among its related pathways/superpathways are Sensory processing of sound and "GPCRs, other". Affiliated ...
Manage Open-Angle Glaucoma: Lifestyle Tips disease
Open-Angle Glaucoma, also known as glaucoma, open-angle, is related to glaucoma 1, open angle, a and exfoliation syndrome. An important gene associated with Open-Angle Glaucoma is MYOC (Myocilin), and among its related pathways/superpathways are Extracellular matrix organization and Burn wound healing. The drugs Tobramycin and Polymyxin B ...