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 |
| 261 | Hereditary angioedema type 1 Autosomal dominant, Autosomal recessive |
Multisystemic disorders |
SERPING1 serpin family G member 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 262 | Hereditary angioedema with C1Inh deficiency Autosomal dominant |
Immune disorders |
SERPING1 serpin family G member 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 263 | Hereditary antithrombin deficiency Autosomal dominant, Autosomal recessive |
Blood disorders |
SERPINC1 serpin family C member 1 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 264 | Hereditary elliptocytosis Autosomal dominant, Autosomal recessive |
Blood disorders |
EPB41 erythrocyte membrane protein band 4.1 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 265 | Hereditary fructosuria Autosomal recessive |
Metabolic disorders |
ALDOB aldolase, fructose-bisphosphate B |
Reports Updated as of Dec 07, 2023 |
PubMed |
| 266 | Hereditary hyperekplexia Autosomal dominant, Autosomal recessive |
Neurodevelopmental disorders |
GLRA1 glycine receptor alpha 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 267 | Hereditary insensitivity to pain with anhidrosis Autosomal recessive |
Neuronal disorders |
NTRK1 neurotrophic receptor tyrosine kinase 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 268 | Hereditary liability to pressure palsies Autosomal dominant |
Neuromuscular disorders |
PMP22 peripheral myelin protein 22 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 269 | Hermansky-Pudlak syndrome 10 Autosomal recessive |
Multisystemic disorders |
AP3D1 adaptor related protein complex 3 subunit delta 1 |
Reports Updated as of Mar 30, 2026 |
PubMed |
| 270 | Hermansky-Pudlak syndrome 4 Autosomal recessive |
Multisystemic disorders |
HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 |
Reports Updated as of Feb 10, 2026 |
PubMed |