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 |
| 281 | Pseudoxanthoma elasticum (Jan 04, 2024) Autosomal recessive |
Skin disorders |
ABCC6 ATP binding cassette subfamily C member 6 |
PubMed | Reports |
| 282 | Pulmonary alveolar microlithiasis (Jan 04, 2024) Autosomal recessive |
Respiratory disorders |
SLC34A2 solute carrier family 34 member 2 |
PubMed | Reports |
| 283 | Purine-nucleoside phosphorylase deficiency (Jan 04, 2024) Autosomal recessive |
Metabolic disorders |
PNP purine nucleoside phosphorylase |
PubMed | Reports |
| 284 | Pyknodysostosis (Jan 04, 2024) Autosomal recessive |
Bone disorders |
CTSK cathepsin K |
PubMed | Reports |
| 285 | Pyle metaphyseal dysplasia (Jan 04, 2024) Autosomal recessive |
Bone disorders |
SFRP4 secreted frizzled related protein 4 |
PubMed | Reports |
| 286 | Pyridoxal phosphate-responsive seizures (Jan 04, 2024) Autosomal recessive |
Metabolic disorders |
PNPO pyridoxamine 5'-phosphate oxidase |
PubMed | Reports |
| 287 | Pyridoxine-dependent epilepsy (Jan 04, 2024) Autosomal recessive |
Metabolic disorders |
ALDH7A1 aldehyde dehydrogenase 7 family member A1 |
PubMed | Reports |
| 288 | Pyruvate carboxylase deficiency (Feb 20, 2024) Autosomal recessive |
Metabolic disorders |
PC pyruvate carboxylase |
PubMed | Reports |
| 289 | Qualitative or quantitative defects of dysferlin (Mar 09, 2023) Autosomal recessive |
Neuromuscular disorders |
DYSF dysferlin |
PubMed | Reports |
| 290 | Ramon syndrome (Jan 04, 2024) Autosomal recessive |
Oral disorders |
ELMO2 engulfment and cell motility 2 |
PubMed | Reports |