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 |
| 191 | Pachyonychia congenita Autosomal dominant |
Skin disorders |
KRT17 keratin 17 KRT16 keratin 16 KRT6B keratin 6B KRT6A keratin 6A |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 192 | Papillary renal cell carcinoma Autosomal dominant |
Cancer disorders |
VHL von Hippel-Lindau tumor suppressor MET MET proto-oncogene, receptor tyrosine kinase SDHB succinate dehydrogenase complex iron sulfur subunit B PTEN phosphatase and tensin homolog ERBB2 erb-b2 receptor tyrosine kinase 2 ARAF A-Raf proto-oncogene, serine/threonine kinase BRAF B-Raf proto-oncogene, serine/threonine kinase PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha RHEB Ras homolog, mTORC1 binding ELOC elongin C TP53 tumor protein p53 MTOR mechanistic target of rapamycin kinase |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 193 | Paroxysmal nocturnal hemoglobinuria |
Blood disorders |
PIGA phosphatidylinositol glycan anchor biosynthesis class A LOC110806306 telomerase RNA component (TERC) promoter |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 194 | Pemphigus vulgaris Autosomal dominant |
Skin disorders |
HLA-DRB1 major histocompatibility complex, class II, DR beta 1 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 HLA-B major histocompatibility complex, class I, B DSG3 desmoglein 3 ST18 ST18 C2H2C-type zinc finger transcription factor TNF tumor necrosis factor |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 195 | Peroxisome biogenesis disorder Autosomal recessive |
Neurodegenerative disorders |
PEX26 peroxisomal biogenesis factor 26 PEX16 peroxisomal biogenesis factor 16 PEX3 peroxisomal biogenesis factor 3 PEX10 peroxisomal biogenesis factor 10 PEX1 peroxisomal biogenesis factor 1 PEX14 peroxisomal biogenesis factor 14 PEX13 peroxisomal biogenesis factor 13 PEX12 peroxisomal biogenesis factor 12 PEX7 peroxisomal biogenesis factor 7 PEX6 peroxisomal biogenesis factor 6 PEX5 peroxisomal biogenesis factor 5 PEX2 peroxisomal biogenesis factor 2 PEX19 peroxisomal biogenesis factor 19 PEX11B peroxisomal biogenesis factor 11 beta |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 196 | Perrault syndrome 1 Autosomal recessive |
Endocrine disorders |
HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 PRORP protein only RNase P catalytic subunit FBN1 fibrillin 1 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 197 | Persistent mullerian duct syndrome Autosomal recessive |
Endocrine disorders |
AMH anti-Mullerian hormone AMHR2 anti-Mullerian hormone receptor type 2 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 198 | Pfeiffer syndrome Autosomal dominant |
Bone disorders |
FGFR2 fibroblast growth factor receptor 2 FGFR1 fibroblast growth factor receptor 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 199 | Phenylketonuria Autosomal recessive |
Metabolic disorders |
PAH phenylalanine hydroxylase COL1A1 collagen type I alpha 1 chain |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 200 | Phytanic acid storage disease Autosomal recessive |
Metabolic disorders |
PHYH phytanoyl-CoA 2-hydroxylase PEX7 peroxisomal biogenesis factor 7 |
Reports Updated as of Feb 20, 2024 |
PubMed |