Table 1 Rare Disease Registries[29]
From: Reducing selection bias in case-control studies from rare disease registries
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 |