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 |
| 251 | Perineural cyst (Mar 09, 2023) |
Neuronal disorders |
HEXA hexosaminidase subunit alpha |
PubMed | Reports |
| 252 | Perry syndrome (Jan 04, 2024) Autosomal dominant |
Neurodegenerative disorders |
DCTN1 dynactin subunit 1 |
PubMed | Reports |
| 253 | Persistent hyperplastic primary vitreous (Sep 05, 2023) Autosomal dominant, Autosomal recessive |
Eye disorders |
ATOH7 atonal bHLH transcription factor 7 |
PubMed | Reports |
| 254 | Peutz-Jeghers syndrome (Jul 20, 2024) Autosomal dominant |
Gastrointestinal disorders |
STK11 serine/threonine kinase 11 |
PubMed | Reports |
| 255 | Phakomatosis pigmentokeratotica (Jan 04, 2024) |
Skin disorders |
HRAS HRas proto-oncogene, GTPase |
PubMed | Reports |
| 256 | Phelan-McDermid syndrome (Sep 15, 2022) Autosomal dominant |
Neurodevelopmental disorders |
SHANK3 SH3 and multiple ankyrin repeat domains 3 |
PubMed | Reports |
| 257 | Piebaldism (Jan 04, 2024) Autosomal dominant |
Skin disorders |
KIT KIT proto-oncogene, receptor tyrosine kinase |
PubMed | Reports |
| 258 | Pierson syndrome (Jan 04, 2024) Autosomal recessive |
Nephrological disorders |
LAMB2 laminin subunit beta 2 |
PubMed | Reports |
| 259 | Pili torti-deafness syndrome (Nov 30, 2023) Autosomal recessive |
Ear disorders/Hair disorders |
BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
PubMed | Reports |
| 260 | Pilomatrixoma (Jan 04, 2024) Somatic mutation |
Cancer disorders |
CTNNB1 catenin beta 1 |
PubMed | Reports |