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=8) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Becker nevus syndrome (Somatic mutation) |
•Becker nevus •Becker's nevus |
Skin disorders |
ACTB actin beta |
Reports | PubMed |
| Chondrosarcoma (Somatic mutation) |
•CHS |
Cancer disorders |
EXT1 exostosin glycosyltransferase 1 |
Reports | PubMed |
| Proteus syndrome (Somatic mutation) |
•Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome •Elattoproteus syndrome •Macrocephaly mesodermal hamartoma spectrum •Hemihypertrophy and macrocephaly |
Bone disorders |
AKT1 AKT serine/threonine kinase 1 |
Reports | PubMed |
| Mesothelioma, malignan (Somatic mutation) |
•Pleural mesothelioma •Malignant mesothelioma |
Respiratory disorders |
WT1 WT1 transcription factor |
Reports | PubMed |
| Pilomatrixoma (Somatic mutation) |
•Epithelioma calcificans of Malherbe •Pilomatricoma |
Cancer disorders |
CTNNB1 catenin beta 1 |
Reports | PubMed |
| Bone osteosarcoma (Somatic mutation) |
•Osteosarcoma •Osteogenic sarcoma |
Cancer disorders |
CHEK2 checkpoint kinase 2 TSC2 TSC complex subunit 2 |
Reports | PubMed |
| Multiple myeloma (Somatic mutation) |
•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 | PubMed |
| Hypereosinophilic syndrome, idiopathic (Somatic mutation) |
•Idiopathic hypereosinophilic syndrome |
Blood disorders |
PDGFRA platelet derived growth factor receptor alpha |
Reports | PubMed |