Cantu Syndrome: Gene, Symptoms, and Care disease
Cantu Syndrome, also known as hypertrichotic osteochondrodysplasia, is related to cardiomyopathy, dilated, 1o and patent ductus arteriosus 1. An important gene associated with Cantu Syndrome is ABCC9 (ATP Binding Cassette Subfamily C Member 9), and among its related pathways/superpathways are Transmission across Chemical Synapses and ...
Elevating Your Niemann-Pick Type A Care: Lifestyle Tips disease
Acid Sphingomyelinase Deficiency, also known as niemann-pick disease, type a, is related to niemann-pick disease, type a and niemann-pick disease, type b, and has symptoms including constipation, vomiting and muscle weakness. An important gene associated with Acid Sphingomyelinase Deficiency is SMPD1 (Sphingomyelin Phosphodiesterase 1). The ...
Elevating Your Specific Granule Deficiency Care disease
Specific Granule Deficiency 1, also known as specific granule deficiency, is related to specific granule deficiency 2 and neutrophilia, hereditary. An important gene associated with Specific Granule Deficiency 1 is CEBPE (CCAAT Enhancer Binding Protein Epsilon), and among its related pathways/superpathways is RNA Polymerase I Promoter ...
Living with Acrodysostosis: Managing Symptoms for A Better Quality of Life disease
Acrodysostosis, also known as acrodysplasia, is related to acrodysostosis with multiple hormone resistance and anemia, congenital dyserythropoietic, type ib. An important gene associated with Acrodysostosis is PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha), and among its related pathways/superpathways are Signal ...
Living with Pulmonary Alveolar Proteinosis: Diet, Mood, and Exercise Tips disease
Pulmonary Alveolar Proteinosis is related to hereditary pulmonary alveolar proteinosis and pulmonary fibrosis, and has symptoms including hemoptysis An important gene associated with Pulmonary Alveolar Proteinosis is MARS1 (Methionyl-TRNA Synthetase 1), and among its related pathways/superpathways are Innate Immune System and Metabolism of ...