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 |
| 211 | Hereditary elliptocytosis Autosomal dominant, Autosomal recessive |
Blood disorders |
EPB41 erythrocyte membrane protein band 4.1 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 212 | Hereditary fructosuria Autosomal recessive |
Metabolic disorders |
ALDOB aldolase, fructose-bisphosphate B |
Reports Updated as of Dec 07, 2023 |
PubMed |
| 213 | Hereditary hyperekplexia Autosomal dominant, Autosomal recessive |
Neurodevelopmental disorders |
GLRA1 glycine receptor alpha 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 214 | Hereditary insensitivity to pain with anhidrosis Autosomal recessive |
Neuronal disorders |
NTRK1 neurotrophic receptor tyrosine kinase 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 215 | Hereditary liability to pressure palsies Autosomal dominant |
Neuromuscular disorders |
PMP22 peripheral myelin protein 22 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 216 | Holt-Oram syndrome Autosomal dominant |
Multisystemic disorders |
TBX5 T-box transcription factor 5 |
Reports Updated as of Nov 12, 2025 |
PubMed |
| 217 | 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 |
| 218 | Hutchinson-Gilford syndrome Autosomal dominant, Autosomal recessive |
Aging disorders |
LMNA lamin A/C |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 219 | Hyaline fibromatosis syndrome Autosomal recessive |
Bone disorders |
ANTXR2 ANTXR cell adhesion molecule 2 |
Reports Updated as of May 24, 2023 |
PubMed |
| 220 | Hyper-IgM syndrome type 1 X-linked recessive |
Immune disorders |
CD40LG CD40 ligand |
Reports Updated as of Feb 01, 2025 |
PubMed |