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 | Grebe syndrome Autosomal recessive |
Bone disorders |
GDF5 growth differentiation factor 5 |
Reports Updated as of Feb 04, 2025 |
PubMed |
| 172 | Greig cephalopolysyndactyly syndrome Autosomal dominant |
Bone disorders |
GLI3 GLI family zinc finger 3 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| 173 | Guillain-Barre syndrome |
Neuromuscular disorders |
PMP22 peripheral myelin protein 22 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 174 | H syndrome Autosomal recessive |
Skin disorders |
SLC29A3 solute carrier family 29 member 3 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| 175 | Haim-Munk syndrome Autosomal recessive |
Skin disorders |
CTSC cathepsin C |
Reports Updated as of Dec 07, 2023 |
PubMed |
| 176 | Hajdu-Cheney syndrome Autosomal dominant |
Bone disorders |
NOTCH2 notch receptor 2 |
Reports Updated as of May 24, 2023 |
PubMed |
| 177 | Hb SS disease Autosomal recessive |
Blood disorders |
HBB hemoglobin subunit beta |
Reports Updated as of Nov 02, 2023 |
PubMed |
| 178 | Hemophilia B X-linked dominant |
Blood disorders |
F9 coagulation factor IX |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 179 | Hereditary acrodermatitis enteropathica Autosomal recessive |
Metabolic disorders |
SLC39A4 solute carrier family 39 member 4 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 180 | Hereditary angioedema type 1 Autosomal dominant, Autosomal recessive |
Multisystemic disorders |
SERPING1 serpin family G member 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |