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 (Gentigs update) Modes of inheritance |
Category | Gene symbol | Links | Indian context |
| 241 | Orthostatic hypotension 1 (Feb 20, 2024) Autosomal recessive |
Metabolic disorders |
DBH dopamine beta-hydroxylase |
PubMed | Reports |
| 242 | Osteofibrous dysplasia (Jan 04, 2024) Autosomal dominant |
Bone disorders |
MET MET proto-oncogene, receptor tyrosine kinase |
PubMed | Reports |
| 243 | Osteoglophonic dysplasia (Nov 30, 2023) Autosomal dominant |
Bone disorders |
FGFR1 fibroblast growth factor receptor 1 |
PubMed | Reports |
| 244 | Osteopetrosis with renal tubular acidosis (Jul 20, 2024) Autosomal recessive |
Bone disorders |
CA2 carbonic anhydrase 2 |
PubMed | Reports |
| 245 | Oto-Palato-Digital syndrome (Sep 05, 2023) X-linked recessive |
Bone disorders |
FLNA filamin A |
PubMed | Reports |
| 246 | Overhydrated hereditary stomatocytosis (Jan 04, 2024) Autosomal dominant |
Blood disorders |
RHAG Rh associated glycoprotein |
PubMed | Reports |
| 247 | Paramyotonia congenita of Von Eulenburg (Sep 15, 2022) Autosomal dominant |
Neuromuscular disorders |
SCN4A sodium voltage-gated channel alpha subunit 4 |
PubMed | Reports |
| 248 | Parathyroid carcinoma (Jan 04, 2024) |
Cancer disorders |
CDC73 cell division cycle 73 |
PubMed | Reports |
| 249 | Partial Androgen Insensitivity Syndrome (Sep 05, 2023) X-linked dominant |
Endocrine disorders |
AR androgen receptor |
PubMed | Reports |
| 250 | Pediatric hepatocellular carcinoma (Jan 04, 2024) |
Cancer disorders |
MET MET proto-oncogene, receptor tyrosine kinase |
PubMed | Reports |