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 |
| 271 | Heterotaxy, visceral, 6, autosomal Autosomal recessive |
Cardiovascular disorders |
CFAP53 cilia and flagella associated protein 53 |
Reports Updated as of Mar 30, 2026 |
PubMed |
| 272 | Heterotopia, periventricular, X-linked dominant X-linked dominant |
Neuronal disorders |
FLNA filamin A |
Reports Updated as of Jan 05, 2026 |
PubMed |
| 273 | Holt-Oram syndrome Autosomal dominant |
Multisystemic disorders |
TBX5 T-box transcription factor 5 |
Reports Updated as of Nov 12, 2025 |
PubMed |
| 274 | 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 |
| 275 | Hutchinson-Gilford syndrome Autosomal dominant, Autosomal recessive |
Aging disorders |
LMNA lamin A/C |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 276 | Hyaline fibromatosis syndrome Autosomal recessive |
Bone disorders |
ANTXR2 ANTXR cell adhesion molecule 2 |
Reports Updated as of May 24, 2023 |
PubMed |
| 277 | Hydatidiform mole, recurrent, 1 Autosomal recessive |
Reproductive disorders |
NLRP7 NLR family pyrin domain containing 7 |
Reports Updated as of Mar 30, 2026 |
PubMed |
| 278 | Hyper-IgM syndrome type 1 X-linked recessive |
Immune disorders |
CD40LG CD40 ligand |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 279 | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Autosomal recessive |
Metabolic disorders |
CA5A carbonic anhydrase 5A |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 280 | Hyperekplexia 1 Autosomal dominant, Autosomal recessive |
Neurodevelopmental disorders |
GLRA1 glycine receptor alpha 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |