List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=1) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Fabry disease (XLR, XLD) |
•Angiokeratoma corporis diffusum •Alpha-galactosidase a deficiency |
Metabolic disorders/Lysosomal storage disorders |
GLA galactosidase alpha |
Reports | PubMed |