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 |
| 301 | Perineural cyst |
Neuronal disorders |
HEXA hexosaminidase subunit alpha |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 302 | Perry syndrome Autosomal dominant |
Neurodegenerative disorders |
DCTN1 dynactin subunit 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 303 | Persistent hyperplastic primary vitreous Autosomal dominant, Autosomal recessive |
Eye disorders |
ATOH7 atonal bHLH transcription factor 7 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 304 | Peutz-Jeghers syndrome Autosomal dominant |
Gastrointestinal disorders |
STK11 serine/threonine kinase 11 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 305 | Phakomatosis pigmentokeratotica |
Skin disorders |
HRAS HRas proto-oncogene, GTPase |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 306 | Phelan-McDermid syndrome Autosomal dominant |
Neurodevelopmental disorders |
SHANK3 SH3 and multiple ankyrin repeat domains 3 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 307 | Piebaldism Autosomal dominant |
Skin disorders |
KIT KIT proto-oncogene, receptor tyrosine kinase |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 308 | Pierson syndrome Autosomal recessive |
Nephrological disorders |
LAMB2 laminin subunit beta 2 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 309 | Pili torti-deafness syndrome Autosomal recessive |
Ear disorders/Hair disorders |
BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 310 | Pilomatrixoma Somatic mutation |
Cancer disorders |
CTNNB1 catenin beta 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |