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 |
| 171 | Hb SS disease Autosomal recessive |
Blood disorders |
HBB hemoglobin subunit beta |
Reports Updated as of Nov 02, 2023 |
PubMed |
| 172 | Hemophilia B X-linked dominant |
Blood disorders |
F9 coagulation factor IX |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 173 | Hereditary acrodermatitis enteropathica Autosomal recessive |
Metabolic disorders |
SLC39A4 solute carrier family 39 member 4 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 174 | Hereditary angioedema type 1 Autosomal dominant, Autosomal recessive |
Multisystemic disorders |
SERPING1 serpin family G member 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 175 | Hereditary angioedema with C1Inh deficiency Autosomal dominant |
Immune disorders |
SERPING1 serpin family G member 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 176 | Hereditary antithrombin deficiency Autosomal dominant, Autosomal recessive |
Blood disorders |
SERPINC1 serpin family C member 1 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 177 | Hereditary elliptocytosis Autosomal dominant, Autosomal recessive |
Blood disorders |
EPB41 erythrocyte membrane protein band 4.1 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 178 | Hereditary fructosuria Autosomal recessive |
Metabolic disorders |
ALDOB aldolase, fructose-bisphosphate B |
Reports Updated as of Dec 07, 2023 |
PubMed |
| 179 | Hereditary hyperekplexia Autosomal dominant, Autosomal recessive |
Neurodevelopmental disorders |
GLRA1 glycine receptor alpha 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 180 | Hereditary insensitivity to pain with anhidrosis Autosomal recessive |
Neuronal disorders |
NTRK1 neurotrophic receptor tyrosine kinase 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |