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 |
|---|---|---|---|---|---|
| Alport syndrome (AD, AR, XLR) |
•Alport hearing loss-nephropathy •Congenital hereditary hematuria •Hemorrhagic familial nephritis •Hemorrhagic hereditary nephritis •Alport deafness-nephropathy |
Nephrological disorders |
COL4A5 collagen type IV alpha 5 chain COL4A4 collagen type IV alpha 4 chain COL4A3 collagen type IV alpha 3 chain |
Reports | PubMed |