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 |
| 381 | MYH9-related disorder Autosomal dominant |
Blood disorders |
MYH9 myosin heavy chain 9 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 382 | Myhre syndrome Autosomal dominant |
Bone disorders |
SMAD4 SMAD family member 4 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 383 | Myoclonic dystonia 11 Autosomal dominant |
Neuromuscular disorders |
SGCE sarcoglycan epsilon |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 384 | Myopathy, lactic acidosis, and sideroblastic anemia 1 Autosomal recessive |
Metabolic disorders |
PUS1 pseudouridine synthase 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 385 | Myopathy, tubular aggregate, 1 Autosomal dominant |
Neuromuscular disorders |
STIM1 stromal interaction molecule 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 386 | 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 |
| 387 | Naegeli-Franceschetti-Jadassohn syndrome Autosomal dominant |
Skin disorders |
KRT14 keratin 14 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 388 | Nager syndrome Autosomal dominant |
Bone disorders |
SF3B4 splicing factor 3b subunit 4 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 389 | Nail-patella syndrome Autosomal dominant |
Bone disorders |
LMX1B LIM homeobox transcription factor 1 beta |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 390 | Nance-Horan syndrome X-linked recessive |
Eye disorders |
NHS NHS actin remodeling regulator |
Reports Updated as of Feb 01, 2024 |
PubMed |