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 |
| 191 | Hyper-IgM syndrome type 1 X-linked recessive |
Immune disorders |
CD40LG CD40 ligand |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 192 | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Autosomal recessive |
Metabolic disorders |
CA5A carbonic anhydrase 5A |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 193 | Hyperekplexia 1 Autosomal dominant, Autosomal recessive |
Neurodevelopmental disorders |
GLRA1 glycine receptor alpha 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 194 | Hypereosinophilic syndrome, idiopathic Somatic mutation |
Blood disorders |
PDGFRA platelet derived growth factor receptor alpha |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 195 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Autosomal recessive |
Metabolic disorders |
SLC25A15 solute carrier family 25 member 15 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 196 | Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Autosomal recessive |
Metabolic disorders |
GCH1 GTP cyclohydrolase 1 |
Reports Updated as of Nov 02, 2023 |
PubMed |
| 197 | Hyperprolinemia type 2 Autosomal recessive |
Metabolic disorders |
ALDH4A1 aldehyde dehydrogenase 4 family member A1 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 198 | Hypoparathyroidism, deafness, renal disease syndrome Autosomal dominant |
Multisystemic disorders |
GATA3 GATA binding protein 3 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 199 | Hypophosphatasia Autosomal dominant, Autosomal recessive |
Metabolic disorders |
ALPL alkaline phosphatase, biomineralization associated |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 200 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Autosomal recessive |
Neurodevelopmental disorders |
NALCN sodium leak channel, non-selective |
Reports Updated as of Feb 26, 2025 |
PubMed |