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 |
| 231 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive |
Neuromuscular disorders |
POLG DNA polymerase gamma, catalytic subunit TWNK twinkle mtDNA helicase |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 232 | Severe combined immunodeficiency disease Autosomal recessive, X-linked recessive |
Immune disorders |
ADA adenosine deaminase IL7R interleukin 7 receptor JAK3 Janus kinase 3 RAG1 recombination activating 1 RAG2 recombination activating 2 DCLRE1C DNA cross-link repair 1C TTC7A tetratricopeptide repeat domain 7A AK2 adenylate kinase 2 PGM3 phosphoglucomutase 3 MALT1 MALT1 paracaspase PTPRC protein tyrosine phosphatase receptor type C IKBKB inhibitor of nuclear factor kappa B kinase subunit beta DOCK8 dedicator of cytokinesis 8 CD3G CD3 gamma subunit of T-cell receptor complex MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 CORO1A coronin 1A STK4 serine/threonine kinase 4 PNP purine nucleoside phosphorylase LCK LCK proto-oncogene, Src family tyrosine kinase FOXN1 forkhead box N1 CD3E CD3 epsilon subunit of T-cell receptor complex CD3D CD3 delta subunit of T-cell receptor complex |
Reports Updated as of Sep 08, 2025 |
PubMed |
| 233 | Severe combined immunodeficiency due to DCLRE1C deficiency Autosomal recessive |
Immune disorders |
DCLRE1C DNA cross-link repair 1C LIG4 DNA ligase 4 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 234 | Severe early-childhood-onset retinal dystrophy Autosomal recessive |
Eye disorders |
CNGB3 cyclic nucleotide gated channel subunit beta 3 ABCA4 ATP binding cassette subfamily A member 4 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| 235 | Severe myoclonic epilepsy in infancy Autosomal dominant |
Neurodevelopmental disorders |
SCN1A sodium voltage-gated channel alpha subunit 1 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 SNX27 sorting nexin 27 SCN9A sodium voltage-gated channel alpha subunit 9 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 236 | Severe X-linked myotubular myopathy X-linked recessive |
Neuromuscular disorders |
DNM2 dynamin 2 MTM1 myotubularin 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 237 | Short-rib thoracic dysplasia 6 with or without polydactyly Autosomal recessive, Digenic recessive |
Bone disorders |
NEK1 NIMA related kinase 1 WDR35 WD repeat domain 35 TTC21B tetratricopeptide repeat domain 21B TRAF3IP1 TRAF3 interacting protein 1 IFT172 intraflagellar transport 172 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 EVC2 EvC ciliary complex subunit 2 EVC EvC ciliary complex subunit 1 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 FUZ fuzzy planar cell polarity protein |
Reports Updated as of Feb 26, 2025 |
PubMed |
| 238 | Silver-Russell syndrome Autosomal dominant |
Neurodevelopmental disorders |
CDKN1C cyclin dependent kinase inhibitor 1C IGF2 insulin like growth factor 2 PLAG1 PLAG1 zinc finger HMGA2 high mobility group AT-hook 2 |
Reports Updated as of Nov 02, 2023 |
PubMed |
| 239 | Sitosterolemia Autosomal recessive |
Metabolic disorders |
ABCG8 ATP binding cassette subfamily G member 8 ABCG5 ATP binding cassette subfamily G member 5 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 240 | Situs inversus totalis Autosomal dominant, Autosomal recessive |
Cardiovascular disorders |
PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting MNS1 meiosis specific nuclear structural 1 CFAP52 cilia and flagella associated protein 52 NODAL nodal growth differentiation factor |
Reports Updated as of Dec 29, 2023 |
PubMed |