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 |
| 261 | Muscle eye brain disease Autosomal recessive |
Neuromuscular disorders |
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 262 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive |
Multisystemic disorders |
POMT1 protein O-mannosyltransferase 1 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| 263 | Myalgic encephalomyelitis |
Neuronal disorders |
TRPM3 transient receptor potential cation channel subfamily M member 3 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 264 | Myasthenia gravis |
Neuromuscular disorders |
CHAT choline O-acetyltransferase |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 265 | MYH9-related disorder Autosomal dominant |
Blood disorders |
MYH9 myosin heavy chain 9 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 266 | Myhre syndrome Autosomal dominant |
Bone disorders |
SMAD4 SMAD family member 4 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 267 | Myoclonic dystonia 11 Autosomal dominant |
Neuromuscular disorders |
SGCE sarcoglycan epsilon |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 268 | Myopathy, lactic acidosis, and sideroblastic anemia 1 Autosomal recessive |
Metabolic disorders |
PUS1 pseudouridine synthase 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 269 | Myopathy, tubular aggregate, 1 Autosomal dominant |
Neuromuscular disorders |
STIM1 stromal interaction molecule 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 270 | Myotonic dystrophy type 2 Autosomal dominant |
Neuromuscular disorders |
CNBP CCHC-type zinc finger nucleic acid binding protein |
Reports Updated as of Nov 30, 2023 |
PubMed |