Somatic mutation
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=8) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Becker nevus syndrome |
• Becker nevus • Becker's nevus |
Skin disorders |
ACTB actin beta |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Chondrosarcoma |
• CHS |
Cancer disorders |
EXT1 exostosin glycosyltransferase 1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Proteus syndrome |
• Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome • Elattoproteus syndrome • Macrocephaly mesodermal hamartoma spectrum • Hemihypertrophy and macrocephaly |
Bone disorders |
AKT1 AKT serine/threonine kinase 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Mesothelioma, malignan |
• Pleural mesothelioma • Malignant mesothelioma |
Respiratory disorders |
WT1 WT1 transcription factor |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Pilomatrixoma |
• Epithelioma calcificans of Malherbe • Pilomatricoma |
Cancer disorders |
CTNNB1 catenin beta 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Bone osteosarcoma |
• Osteosarcoma • Osteogenic sarcoma |
Cancer disorders |
CHEK2 checkpoint kinase 2 TSC2 TSC complex subunit 2 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Multiple myeloma |
• Kahler disease • Medullary plasmacytoma • Myelomatosis • Plasma cell myeloma • Plasma cell dyscrasia |
Cancer disorders |
FGFR3 fibroblast growth factor receptor 3 BRAF B-Raf proto-oncogene, serine/threonine kinase TP53 tumor protein p53 TRAF5 TNF receptor associated factor 5 CDKN2C cyclin dependent kinase inhibitor 2C BARD1 BRCA1 associated RING domain 1 HDAC4 histone deacetylase 4 DNMT3A DNA methyltransferase 3 alpha TET3 tet methylcytosine dioxygenase 3 CRBN cereblon MST1R macrophage stimulating 1 receptor BAP1 BRCA1 associated protein 1 TET2 tet methylcytosine dioxygenase 2 FAT1 FAT atypical cadherin 1 IL7R interleukin 7 receptor SGK1 serum/glucocorticoid regulated kinase 1 LATS1 large tumor suppressor kinase 1 H3C1 H3 clustered histone 1 H1-4 H1.4 linker histone, cluster member H2AC16 H2A clustered histone 16 H2AC17 H2A clustered histone 17 KMT2C lysine methyltransferase 2C RXRA retinoid X receptor alpha YAP1 Yes1 associated transcriptional regulator ATM ATM serine/threonine kinase SH2B3 SH2B adaptor protein 3 NCOR2 nuclear receptor corepressor 2 FLT3 fms related receptor tyrosine kinase 3 DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease NKX2-1 NK2 homeobox 1 ARID4A AT-rich interaction domain 4A MGA MAX dimerization protein MGA CREBBP CREB binding protein CYLD CYLD lysine 63 deubiquitinase NF1 neurofibromin 1 TCF3 transcription factor 3 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ERF ETS2 repressor factor SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 AURKA aurora kinase A BCORL1 BCL6 corepressor like 1 EIF1AX eukaryotic translation initiation factor 1A X-linked KDM5C lysine demethylase 5C P2RY8 P2Y receptor family member 8 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Hypereosinophilic syndrome, idiopathic |
• Idiopathic hypereosinophilic syndrome |
Blood disorders |
PDGFRA platelet derived growth factor receptor alpha |
Reports Updated as of Feb 20, 2024 |
PubMed |