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 |
| 91 | Congenital generalized lipodystrophy type 1 Autosomal recessive |
Metabolic disorders |
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 92 | Congenital glaucoma Autosomal dominant, Autosomal recessive |
Eye disorders |
CYP1B1 cytochrome P450 family 1 subfamily B member 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 93 | Congenital glucose-galactose malabsorption Autosomal recessive |
Metabolic disorders |
SLC5A1 solute carrier family 5 member 1 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 94 | Congenital hypotrichosis with juvenile macular dystrophy Autosomal recessive |
Hair disorders |
CDH3 cadherin 3 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| 95 | Congenital lipoid adrenal hyperplasia due to STAR deficency Autosomal recessive |
Metabolic disorders |
STAR steroidogenic acute regulatory protein |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 96 | Congenital myotonia, autosomal dominant form Autosomal dominant |
Neuromuscular disorders |
CLCN1 chloride voltage-gated channel 1 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| 97 | Congenital plasminogen activator inhibitor type 1 deficiency Autosomal dominant, Autosomal recessive |
Blood disorders |
SERPINE1 serpin family E member 1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 98 | Congenital primary aphakia Autosomal recessive |
Eye disorders |
FOXE3 forkhead box E3 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 99 | Congenital secretory diarrhea, chloride type Autosomal recessive |
Gastrointestinal disorders |
SLC26A3 solute carrier family 26 member 3 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| 100 | Costello syndrome Autosomal dominant |
Multisystemic disorders |
HRAS HRas proto-oncogene, GTPase |
Reports Updated as of Feb 01, 2025 |
PubMed |