Table 1.

Rare Disease Registries[29]

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