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 |
| 221 | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Autosomal recessive |
Metabolic disorders |
CA5A carbonic anhydrase 5A |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 222 | Hyperekplexia 1 Autosomal dominant, Autosomal recessive |
Neurodevelopmental disorders |
GLRA1 glycine receptor alpha 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 223 | Hypereosinophilic syndrome, idiopathic Somatic mutation |
Blood disorders |
PDGFRA platelet derived growth factor receptor alpha |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 224 | 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 |
| 225 | Hyperinsulinemic hypoglycemia, familial, 4 Autosomal recessive |
Metabolic disorders |
HADH hydroxyacyl-CoA dehydrogenase |
Reports Updated as of Sep 08, 2025 |
PubMed |
| 226 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Autosomal recessive |
Metabolic disorders |
SLC25A15 solute carrier family 25 member 15 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 227 | Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Autosomal recessive |
Metabolic disorders |
GCH1 GTP cyclohydrolase 1 |
Reports Updated as of Nov 02, 2023 |
PubMed |
| 228 | Hyperprolinemia type 2 Autosomal recessive |
Metabolic disorders |
ALDH4A1 aldehyde dehydrogenase 4 family member A1 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 229 | Hypoparathyroidism, deafness, renal disease syndrome Autosomal dominant |
Multisystemic disorders |
GATA3 GATA binding protein 3 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 230 | Hypophosphatasia Autosomal dominant, Autosomal recessive |
Metabolic disorders |
ALPL alkaline phosphatase, biomineralization associated |
Reports Updated as of Sep 05, 2023 |
PubMed |