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 |
| 261 | Plasminogen deficiency (Nov 30, 2023) Autosomal recessive |
Blood disorders |
PLG plasminogen |
PubMed | Reports |
| 262 | Poikiloderma with neutropenia (Jan 04, 2024) Autosomal recessive |
Skin disorders |
USB1 U6 snRNA biogenesis phosphodiesterase 1 |
PubMed | Reports |
| 263 | Polyostotic fibrous dysplasia (Sep 05, 2023) Somatic mosaicism |
Bone disorders |
GNAS GNAS complex locus |
PubMed | Reports |
| 264 | Porokeratosis of Mibelli (Jan 04, 2024) Autosomal dominant |
Skin disorders |
PMVK phosphomevalonate kinase |
PubMed | Reports |
| 265 | Primary biliary cholangitis (Jan 04, 2024) |
Liver disorders |
TJP2 tight junction protein 2 |
PubMed | Reports |
| 266 | Primary erythromelalgia (Jan 04, 2024) Autosomal dominant |
Neurodevelopmental disorders |
SCN9A sodium voltage-gated channel alpha subunit 9 |
PubMed | Reports |
| 267 | Primary hyperoxaluria, type II (Feb 20, 2024) Autosomal recessive |
Metabolic disorders |
GRHPR glyoxylate and hydroxypyruvate reductase |
PubMed | Reports |
| 268 | Primary hypomagnesemia (Jul 20, 2024) Autosomal recessive |
Metabolic disorders |
CLDN16 claudin 16 |
PubMed | Reports |
| 269 | Primary progressive non fluent aphasia (Jan 04, 2024) |
Neurodegenerative disorders |
TBK1 TANK binding kinase 1 |
PubMed | Reports |
| 270 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 (Jul 20, 2024) Autosomal dominant |
Metabolic disorders |
RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B |
PubMed | Reports |