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 |
| 201 | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) (Jul 20, 2024) Autosomal recessive |
Metabolic disorders |
MPV17 mitochondrial inner membrane protein MPV17 |
PubMed | Reports |
| 202 | Monomelic amyotrophy (Feb 01, 2024) |
Neuromuscular disorders |
SLIT1 slit guidance ligand 1 |
PubMed | Reports |
| 203 | Morning glory disc anomaly (Jan 04, 2024) Autosomal dominant |
Eye disorders |
PAX6 paired box 6 |
PubMed | Reports |
| 204 | Mosaic variegated aneuploidy syndrome 2 (Feb 01, 2024) Autosomal recessive |
Multisystemic disorders |
CEP57 centrosomal protein 57 |
PubMed | Reports |
| 205 | Mucolipidosis type II (May 24, 2023) Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
PubMed | Reports |
| 206 | Mucopolysaccharidosis type 2 (May 24, 2023) X-linked dominant |
Metabolic disorders/Lysosomal storage disorders |
IDS iduronate 2-sulfatase |
PubMed | Reports |
| 207 | Mucopolysaccharidosis, MPS-IV-A (Sep 05, 2023) Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
GALNS galactosamine (N-acetyl)-6-sulfatase |
PubMed | Reports |
| 208 | Mucosa-associated lymphoma (Feb 01, 2024) |
Cancer disorders |
BCL10 BCL10 immune signaling adaptor |
PubMed | Reports |
| 209 | Muenke syndrome (Feb 01, 2024) Autosomal dominant |
Bone disorders |
FGFR3 fibroblast growth factor receptor 3 |
PubMed | Reports |
| 210 | Mulibrey nanism syndrome (Feb 01, 2024) Autosomal recessive |
Bone disorders |
TRIM37 tripartite motif containing 37 |
PubMed | Reports |