Table 1.
Lysosomal Storage Diseases with Registries | Examples of Rare Diseases with Registries |
---|---|
• Fabry disease | • Adrenocortical Tumors |
• Gaucher disease | • Alport Syndrome |
• Hunter syndrome | • Epidermolysis Bullosa |
• Mucopolysacchiridosis (MPS) type 1 | • Inflammatory Breast Cancer |
• Pompe disease | • Juvenile Rheumatoid Arthritis |
• Neuroendocrine Tumors | |
• Neurological Autoimmune Disease | |
• Neutropenia | |
• Primary Ciliary Dyskines | |
• Primary & Secondary Immunodeficiency | |
• Smith Magenis Syndrome | |
• Thrombotic Thrombocytopenia Purpura | |
• Unexplained Cardiac Arrest | |
• Vascular Anomalies Associated with Coagulapathy | |
• Wilms Tumor Suppressor Gene Mutation (WT1) Associated Diseases |