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 |
| 181 | Hereditary liability to pressure palsies Autosomal dominant |
Neuromuscular disorders |
PMP22 peripheral myelin protein 22 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 182 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
MTHFR methylenetetrahydrofolate reductase |
Reports Updated as of Feb 26, 2025 |
PubMed |
| 183 | Hutchinson-Gilford syndrome Autosomal dominant, Autosomal recessive |
Aging disorders |
LMNA lamin A/C |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 184 | Hyaline fibromatosis syndrome Autosomal recessive |
Bone disorders |
ANTXR2 ANTXR cell adhesion molecule 2 |
Reports Updated as of May 24, 2023 |
PubMed |
| 185 | Hyper-IgM syndrome type 1 X-linked recessive |
Immune disorders |
CD40LG CD40 ligand |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 186 | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Autosomal recessive |
Metabolic disorders |
CA5A carbonic anhydrase 5A |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 187 | Hyperekplexia 1 Autosomal dominant, Autosomal recessive |
Neurodevelopmental disorders |
GLRA1 glycine receptor alpha 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 188 | Hypereosinophilic syndrome, idiopathic Somatic mutation |
Blood disorders |
PDGFRA platelet derived growth factor receptor alpha |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 189 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Autosomal recessive |
Metabolic disorders |
SLC25A15 solute carrier family 25 member 15 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 190 | Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Autosomal recessive |
Metabolic disorders |
GCH1 GTP cyclohydrolase 1 |
Reports Updated as of Nov 02, 2023 |
PubMed |