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 (Gentigs update) Modes of inheritance |
Category | Gene symbol | Links | Indian context |
| 211 | Multiple congenital exostosis (Feb 01, 2024) Autosomal dominant |
Bone disorders |
EXT1 exostosin glycosyltransferase 1 |
PubMed | Reports |
| 212 | Multiple fibrofolliculomas (Nov 30, 2023) Autosomal dominant |
Skin disorders |
FLCN folliculin |
PubMed | Reports |
| 213 | Multiple gastrointestinal atresias (Feb 01, 2024) Autosomal recessive |
Gastrointestinal disorders |
TTC7A tetratricopeptide repeat domain 7A |
PubMed | Reports |
| 214 | Multiple mitochondrial dysfunctions syndrome 5 (Jul 20, 2024) Autosomal recessive |
Metabolic disorders |
ISCA1 iron-sulfur cluster assembly 1 |
PubMed | Reports |
| 215 | Multiple sclerosis (Sep 15, 2022) |
Neurodegenerative disorders |
NR1H3 nuclear receptor subfamily 1 group H member 3 |
PubMed | Reports |
| 216 | Muscle eye brain disease (Feb 01, 2024) Autosomal recessive |
Neuromuscular disorders |
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
PubMed | Reports |
| 217 | Myalgic encephalomyelitis (Sep 05, 2023) |
Neuronal disorders |
TRPM3 transient receptor potential cation channel subfamily M member 3 |
PubMed | Reports |
| 218 | Myasthenia gravis (Sep 05, 2023) |
Neuromuscular disorders |
CHAT choline O-acetyltransferase |
PubMed | Reports |
| 219 | MYH9-related disorder (Feb 01, 2024) Autosomal dominant |
Blood disorders |
MYH9 myosin heavy chain 9 |
PubMed | Reports |
| 220 | Myhre syndrome (Feb 01, 2024) Autosomal dominant |
Bone disorders |
SMAD4 SMAD family member 4 |
PubMed | Reports |