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 |
|---|---|---|---|---|---|
| 46,XY sex reversal 1 (AD, AR, XLD, Y-linked) |
•Swyer syndrome •46,XY complete gonadal dysgenesis •Pure gonadal dysgenesis 46,XY •46, XY CGD •46, XY pure gonadal dysgenesis •46,XY sex reversal •Gonadal dysgenesis, XY female type |
Reproductive disorders |
SRY sex determining region Y SOX9 SRY-box transcription factor 9 DHX37 DEAH-box helicase 37 |
Reports | PubMed |