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 |
| 301 | Osteoglophonic dysplasia Autosomal dominant |
Bone disorders |
FGFR1 fibroblast growth factor receptor 1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 302 | Osteopathia striata with cranial sclerosis X-linked dominant |
Bone disorders |
AMER1 APC membrane recruitment protein 1 |
Reports Updated as of Feb 04, 2025 |
PubMed |
| 303 | Osteopetrosis with renal tubular acidosis Autosomal recessive |
Bone disorders |
CA2 carbonic anhydrase 2 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 304 | Osteoporosis with pseudoglioma Autosomal recessive |
Bone disorders |
LRP5 LDL receptor related protein 5 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 305 | Oto-Palato-Digital syndrome X-linked recessive |
Bone disorders |
FLNA filamin A |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 306 | Overhydrated hereditary stomatocytosis Autosomal dominant |
Blood disorders |
RHAG Rh associated glycoprotein |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 307 | Paramyotonia congenita of Von Eulenburg Autosomal dominant |
Neuromuscular disorders |
SCN4A sodium voltage-gated channel alpha subunit 4 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 308 | Parathyroid carcinoma |
Cancer disorders |
CDC73 cell division cycle 73 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 309 | Partial Androgen Insensitivity Syndrome X-linked dominant |
Endocrine disorders |
AR androgen receptor |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 310 | Pediatric hepatocellular carcinoma |
Cancer disorders |
MET MET proto-oncogene, receptor tyrosine kinase |
Reports Updated as of Jan 04, 2024 |
PubMed |