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 |
| 421 | Osteosclerotic metaphyseal dysplasia Autosomal recessive |
Bone disorders |
LRRK1 leucine rich repeat kinase 1 |
Reports Updated as of Jan 05, 2026 |
PubMed |
| 422 | Oto-Palato-Digital syndrome X-linked recessive |
Bone disorders |
FLNA filamin A |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 423 | Overhydrated hereditary stomatocytosis Autosomal dominant |
Blood disorders |
RHAG Rh associated glycoprotein |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 424 | Parathyroid carcinoma |
Cancer disorders |
CDC73 cell division cycle 73 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 425 | Parkes Weber syndrome Autosomal dominant |
Cardiovascular disorders |
MAP2K1 mitogen-activated protein kinase kinase 1 |
Reports Updated as of Apr 28, 2026 |
PubMed |
| 426 | Parkinsonian-pyramidal syndrome Autosomal recessive |
Neurodegenerative disorders |
FBXO7 F-box protein 7 |
Reports Updated as of Feb 10, 2026 |
PubMed |
| 427 | Partial Androgen Insensitivity Syndrome X-linked dominant |
Endocrine disorders |
AR androgen receptor |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 428 | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency X-linked recessive |
Metabolic disorders |
HPRT1 hypoxanthine phosphoribosyltransferase 1 |
Reports Updated as of Jan 05, 2026 |
PubMed |
| 429 | Pediatric hepatocellular carcinoma |
Cancer disorders |
MET MET proto-oncogene, receptor tyrosine kinase |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 430 | Perineural cyst |
Neuronal disorders |
HEXA hexosaminidase subunit alpha |
Reports Updated as of Mar 09, 2023 |
PubMed |