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 | Merosin deficient congenital muscular dystrophy Autosomal recessive |
Neuromuscular disorders |
LAMA2 laminin subunit alpha 2 |
Reports Updated as of Feb 04, 2025 |
PubMed |
| 242 | Mesoaxial synostotic syndactyly with phalangeal reduction Autosomal recessive |
Bone disorders |
BHLHA9 basic helix-loop-helix family member a9 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 243 | Mesothelioma, malignan Somatic mutation |
Respiratory disorders |
WT1 WT1 transcription factor |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 244 | Metachondromatosis Autosomal dominant |
Bone disorders |
PTPN11 protein tyrosine phosphatase non-receptor type 11 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 245 | Metaphyseal chondrodysplasia, Jansen type Autosomal dominant |
Immune disorders |
PTH1R parathyroid hormone 1 receptor |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 246 | Metaphyseal chondrodysplasia, McKusick type Autosomal recessive |
Immune disorders |
RMRP RNA component of mitochondrial RNA processing endoribonuclease |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 247 | Metatropic dysplasia Autosomal dominant |
Bone disorders |
TRPV4 transient receptor potential cation channel subfamily V member 4 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 248 | Mevalonic aciduria Autosomal recessive |
Metabolic disorders |
MVK mevalonate kinase |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 249 | Microcephaly 5, primary, autosomal recessive Autosomal recessive |
Neurodevelopmental disorders |
ASPM assembly factor for spindle microtubules |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 250 | Microcephaly, normal intelligence and immunodeficiency Autosomal recessive |
Immune disorders |
NBN nibrin |
Reports Updated as of Feb 26, 2025 |
PubMed |