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 |
| 321 | Plasminogen deficiency Autosomal recessive |
Blood disorders |
PLG plasminogen |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 322 | Poikiloderma with neutropenia Autosomal recessive |
Skin disorders |
USB1 U6 snRNA biogenesis phosphodiesterase 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 323 | Polyostotic fibrous dysplasia Somatic mosaicism |
Bone disorders |
GNAS GNAS complex locus |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 324 | Pontocerebellar hypoplasia type 9 Autosomal recessive |
Neuromuscular disorders |
AMPD2 adenosine monophosphate deaminase 2 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 325 | Popliteal pterygium syndrome Autosomal dominant |
Multisystemic disorders |
IRF6 interferon regulatory factor 6 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| 326 | Porokeratosis of Mibelli Autosomal dominant |
Skin disorders |
PMVK phosphomevalonate kinase |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 327 | Primary biliary cholangitis |
Liver disorders |
TJP2 tight junction protein 2 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 328 | Primary erythromelalgia Autosomal dominant |
Neurodevelopmental disorders |
SCN9A sodium voltage-gated channel alpha subunit 9 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 329 | Primary hyperoxaluria, type II Autosomal recessive |
Metabolic disorders |
GRHPR glyoxylate and hydroxypyruvate reductase |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 330 | Primary hypomagnesemia Autosomal recessive |
Metabolic disorders |
CLDN16 claudin 16 |
Reports Updated as of Jul 20, 2024 |
PubMed |