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.
View information by inheritance mode
| S.No. | Genetic Disorders Modes of inheritance |
Category | Gene symbol | Indian context |
Links |
| 251 | Sudden infant death syndrome Autosomal recessive |
Metabolic disorders |
KCNQ1 potassium voltage-gated channel subfamily Q member 1 KCNH2 potassium voltage-gated channel subfamily H member 2 SCN5A sodium voltage-gated channel alpha subunit 5 SCN4B sodium voltage-gated channel beta subunit 4 SCN1A sodium voltage-gated channel alpha subunit 1 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit CALM2 calmodulin 2 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 252 | Sulfite oxidase deficiency Autosomal recessive |
Metabolic disorders |
SUOX sulfite oxidase GPHN gephyrin MOCS2 molybdenum cofactor synthesis 2 MOCS1 molybdenum cofactor synthesis 1 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 253 | Systemic lupus erythematosus Autosomal dominant |
Immune disorders |
IRF5 interferon regulatory factor 5 BLK BLK proto-oncogene, Src family tyrosine kinase TREX1 three prime repair exonuclease 1 SOCS1 suppressor of cytokine signaling 1 TLR7 toll like receptor 7 |
Reports Updated as of May 24, 2023 |
PubMed |
| 254 | Systemic-Onset Juvenile Idiopathic Arthritis |
Bone disorders |
S100A9 S100 calcium binding protein A9 IL6 interleukin 6 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 LACC1 laccase domain containing 1 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 255 | Takayasu arteritis |
Cardiovascular disorders |
MLXIPL MLX interacting protein like IL12B interleukin 12B HLA-B major histocompatibility complex, class I, B |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 256 | Tangier disease Autosomal recessive |
Metabolic disorders |
ABCA1 ATP binding cassette subfamily A member 1 APOA1 apolipoprotein A1 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 257 | Tay-Sachs disease Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
GM2A ganglioside GM2 activator HEXA hexosaminidase subunit alpha |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 258 | Testicular agenesis |
Endocrine disorders |
SRY sex determining region Y NR5A1 nuclear receptor subfamily 5 group A member 1 INSL3 insulin like 3 RXFP2 relaxin family peptide receptor 2 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 259 | Tetralogy of Fallot Autosomal dominant |
Cardiovascular disorders |
JAG1 jagged canonical Notch ligand 1 NKX2-5 NK2 homeobox 5 GATA4 GATA binding protein 4 GATA6 GATA binding protein 6 ZFPM2 zinc finger protein, FOG family member 2 EPHB4 EPH receptor B4 NOTCH1 notch receptor 1 TPM1 tropomyosin 1 TBX1 T-box transcription factor 1 NIPBL NIPBL cohesin loading factor MT-CO1 mitochondrially encoded cytochrome c oxidase I MT-CO2 mitochondrially encoded cytochrome c oxidase II MT-CO3 mitochondrially encoded cytochrome c oxidase III ROBO1 roundabout guidance receptor 1 FLNC filamin C |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 260 | Thrombophilia due to thrombin defect Autosomal dominant |
Blood disorders |
F2 coagulation factor II, thrombin F5 coagulation factor V |
Reports Updated as of Feb 26, 2025 |
PubMed |