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 |
| 281 | Hyperekplexia 3 Autosomal dominant, Autosomal recessive |
Neurodevelopmental disorders |
SLC6A5 solute carrier family 6 member 5 |
Reports Updated as of Feb 10, 2026 |
PubMed |
| 282 | Hypereosinophilic syndrome, idiopathic Somatic mutation |
Blood disorders |
PDGFRA platelet derived growth factor receptor alpha |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 283 | Hyperimmunoglobulin D with periodic fever Autosomal recessive |
Immune disorders |
MVK mevalonate kinase |
Reports Updated as of Jan 05, 2026 |
PubMed |
| 284 | Hyperinsulinemic hypoglycemia, familial, 1 Autosomal dominant, Autosomal recessive |
Metabolic disorders |
ABCC8 ATP binding cassette subfamily C member 8 |
Reports Updated as of Sep 08, 2025 |
PubMed |
| 285 | Hyperinsulinemic hypoglycemia, familial, 4 Autosomal recessive |
Metabolic disorders |
HADH hydroxyacyl-CoA dehydrogenase |
Reports Updated as of Sep 08, 2025 |
PubMed |
| 286 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Autosomal recessive |
Metabolic disorders |
SLC25A15 solute carrier family 25 member 15 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 287 | Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Autosomal recessive |
Metabolic disorders |
GCH1 GTP cyclohydrolase 1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 288 | Hyperprolinemia type 2 Autosomal recessive |
Metabolic disorders |
ALDH4A1 aldehyde dehydrogenase 4 family member A1 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 289 | Hypertrophic cardiomyopathy 14 Autosomal dominant |
Cardiovascular disorders |
MYH6 myosin heavy chain 6 |
Reports Updated as of Mar 30, 2026 |
PubMed |
| 290 | Hypochondroplasia Autosomal dominant |
Bone disorders |
FGFR3 fibroblast growth factor receptor 3 |
Reports Updated as of Jan 05, 2026 |
PubMed |