Somatic mosaicism
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=5) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| CLOVES syndrome |
• 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 Updated as of Nov 30, 2023 |
PubMed |
| Encephalocraniocutaneous lipomatosis |
• Haberland syndrome |
Neuronal disorders |
FGFR1 fibroblast growth factor receptor 1 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| Linear nevus sebaceus syndrome |
• 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 Updated as of Jan 04, 2024 |
PubMed |
| Polyostotic fibrous dysplasia | Bone disorders |
GNAS GNAS complex locus |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Sturge-Weber syndrome | Neuronal disorders |
GNAQ G protein subunit alpha q |
Reports Updated as of Sep 05, 2023 |
PubMed |