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 (Gentigs update) Modes of inheritance |
Category | Gene symbol | Links | Indian context |
| 141 | H syndrome (Dec 07, 2023) Autosomal recessive |
Skin disorders |
SLC29A3 solute carrier family 29 member 3 |
PubMed | Reports |
| 142 | Haim-Munk syndrome (Dec 07, 2023) Autosomal recessive |
Skin disorders |
CTSC cathepsin C |
PubMed | Reports |
| 143 | Hajdu-Cheney syndrome (May 24, 2023) Autosomal dominant |
Bone disorders |
NOTCH2 notch receptor 2 |
PubMed | Reports |
| 144 | Hb SS disease (Nov 02, 2023) Autosomal recessive |
Blood disorders |
HBB hemoglobin subunit beta |
PubMed | Reports |
| 145 | Hemophilia B (Sep 05, 2023) X-linked dominant |
Blood disorders |
F9 coagulation factor IX |
PubMed | Reports |
| 146 | Hereditary acrodermatitis enteropathica (Feb 01, 2024) Autosomal recessive |
Metabolic disorders |
SLC39A4 solute carrier family 39 member 4 |
PubMed | Reports |
| 147 | Hereditary antithrombin deficiency (Jul 20, 2024) Autosomal dominant, Autosomal recessive |
Blood disorders |
SERPINC1 serpin family C member 1 |
PubMed | Reports |
| 148 | Hereditary elliptocytosis (Feb 20, 2024) Autosomal dominant, Autosomal recessive |
Blood disorders |
EPB41 erythrocyte membrane protein band 4.1 |
PubMed | Reports |
| 149 | Hereditary fructosuria (Dec 07, 2023) Autosomal recessive |
Metabolic disorders |
ALDOB aldolase, fructose-bisphosphate B |
PubMed | Reports |
| 150 | Hereditary hyperekplexia (Mar 09, 2023) Autosomal dominant, Autosomal recessive |
Neurodevelopmental disorders |
GLRA1 glycine receptor alpha 1 |
PubMed | Reports |