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 |
| 241 | Microcephaly 5, primary, autosomal recessive Autosomal recessive |
Neurodevelopmental disorders |
ASPM assembly factor for spindle microtubules |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 242 | Microcephaly, normal intelligence and immunodeficiency Autosomal recessive |
Immune disorders |
NBN nibrin |
Reports Updated as of Feb 26, 2025 |
PubMed |
| 243 | Miller syndrome Autosomal recessive |
Bone disorders |
DHODH dihydroorotate dehydrogenase (quinone) |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 244 | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Autosomal recessive |
Metabolic disorders |
MPV17 mitochondrial inner membrane protein MPV17 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 245 | Monomelic amyotrophy |
Neuromuscular disorders |
SLIT1 slit guidance ligand 1 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 246 | Morning glory disc anomaly Autosomal dominant |
Eye disorders |
PAX6 paired box 6 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 247 | Mosaic variegated aneuploidy syndrome 2 Autosomal recessive |
Multisystemic disorders |
CEP57 centrosomal protein 57 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 248 | Mucolipidosis type II Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
Reports Updated as of May 24, 2023 |
PubMed |
| 249 | Mucopolysaccharidosis type 1 Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
IDUA alpha-L-iduronidase |
Reports Updated as of Feb 26, 2025 |
PubMed |
| 250 | Mucopolysaccharidosis type 2 X-linked dominant |
Metabolic disorders/Lysosomal storage disorders |
IDS iduronate 2-sulfatase |
Reports Updated as of May 24, 2023 |
PubMed |