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 |
| 271 | Map-dot-fingerprint corneal dystrophy Autosomal dominant |
Eye disorders |
TGFBI transforming growth factor beta induced |
Reports Updated as of Dec 07, 2023 |
PubMed |
| 272 | Marinesco-Sjögren syndrome Autosomal recessive |
Neurodegenerative disorders |
SIL1 SIL1 nucleotide exchange factor |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 273 | Maturity onset diabetes mellitus in young (MODY) Autosomal dominant |
Metabolic disorders |
HNF4A hepatocyte nuclear factor 4 alpha |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 274 | Menkes disease X-linked dominant |
Metabolic disorders |
ATP7A ATPase copper transporting alpha |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 275 | Merosin deficient congenital muscular dystrophy Autosomal recessive |
Neuromuscular disorders |
LAMA2 laminin subunit alpha 2 |
Reports Updated as of Feb 04, 2025 |
PubMed |
| 276 | 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 |
| 277 | Mesothelioma, malignan Somatic mutation |
Respiratory disorders |
WT1 WT1 transcription factor |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 278 | Metachondromatosis Autosomal dominant |
Bone disorders |
PTPN11 protein tyrosine phosphatase non-receptor type 11 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 279 | Metaphyseal chondrodysplasia, Jansen type Autosomal dominant |
Immune disorders |
PTH1R parathyroid hormone 1 receptor |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 280 | Metaphyseal chondrodysplasia, McKusick type Autosomal recessive |
Immune disorders |
RMRP RNA component of mitochondrial RNA processing endoribonuclease |
Reports Updated as of Sep 15, 2022 |
PubMed |