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=5) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Polyostotic fibrous dysplasia (Somatic mosaicism) |
Bone disorders |
GNAS GNAS complex locus |
Reports | PubMed | |
| Sturge-Weber syndrome (Somatic mosaicism) |
Neuronal disorders |
GNAQ G protein subunit alpha q |
Reports | PubMed | |
| Encephalocraniocutaneous lipomatosis (Somatic mosaicism) |
•Haberland syndrome |
Neuronal disorders |
FGFR1 fibroblast growth factor receptor 1 |
Reports | PubMed |
| CLOVES syndrome (Somatic mosaicism) |
•Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi •CLOVE Syndrome |
Skin disorders |
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 |
Reports | PubMed |
| Linear nevus sebaceus syndrome (Somatic mosaicism) |
•Nevus sebaceus of Jadassohn •Jadassohn nevus phakomatosis •Linear nevus sebaceous •Organoid nevus phakomatosis •Schimmelpenning syndrome •Solomon syndrome •Sebaceous nevus syndrome and hemimegalencephaly |
Skin disorders |
KRAS KRAS proto-oncogene, GTPase |
Reports | PubMed |