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 |
| 211 | Primary sclerosing cholangitis |
Liver disorders |
Snhg10 small nucleolar RNA host gene 10 SEMA4D semaphorin 4D GPR35 G protein-coupled receptor 35 STK4 serine/threonine kinase 4 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 212 | Progressive external ophthalmoplegia |
Metabolic disorders |
TWNK twinkle mtDNA helicase POLG2 DNA polymerase gamma 2, accessory subunit RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G) POLG DNA polymerase gamma, catalytic subunit SLC25A4 solute carrier family 25 member 4 TK2 thymidine kinase 2 DGUOK deoxyguanosine kinase RNASEH1 ribonuclease H1 TOP3A DNA topoisomerase III alpha RRM1 ribonucleotide reductase catalytic subunit M1 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 213 | Progressive myoclonic epilepsy |
Neurodegenerative disorders |
KCTD7 potassium channel tetramerization domain containing 7 GOSR2 golgi SNAP receptor complex member 2 PRICKLE2 prickle planar cell polarity protein 2 KCNC1 potassium voltage-gated channel subfamily C member 1 CERS1 ceramide synthase 1 EPM2A EPM2A glucan phosphatase, laforin LMNB2 lamin B2 SCARB2 scavenger receptor class B member 2 CSTB cystatin B |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 214 | Progressive sclerosing poliodystrophy Autosomal recessive |
Neurodegenerative disorders |
POLG DNA polymerase gamma, catalytic subunit EDAR ectodysplasin A receptor |
Reports Updated as of Feb 26, 2025 |
PubMed |
| 215 | Propionic acidemia Autosomal recessive |
Metabolic disorders |
PCCB propionyl-CoA carboxylase subunit beta PCCA propionyl-CoA carboxylase subunit alpha |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 216 | Prune belly syndrome Autosomal recessive |
Nephrological disorders |
CHRM3 cholinergic receptor muscarinic 3 MYOCD myocardin FLNA filamin A |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 217 | Prurigo nodularis |
Skin disorders |
SEMA3A semaphorin 3A NGF nerve growth factor |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 218 | Pseudohypoaldosteronism type 1 Autosomal dominant, Autosomal recessive |
Nephrological disorders |
SCNN1A sodium channel epithelial 1 subunit alpha SCNN1B sodium channel epithelial 1 subunit beta SCNN1G sodium channel epithelial 1 subunit gamma NR3C2 nuclear receptor subfamily 3 group C member 2 CUL3 cullin 3 KLHL3 kelch like family member 3 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 219 | Pseudohypoaldosteronism type 2 Autosomal dominant |
Nephrological disorders |
WNK1 WNK lysine deficient protein kinase 1 WNK4 WNK lysine deficient protein kinase 4 CUL3 cullin 3 KLHL3 kelch like family member 3 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 220 | Pulmonary arterial hypertension Autosomal dominant |
Cardiovascular disorders |
ACVRL1 activin A receptor like type 1 BMPR2 bone morphogenetic protein receptor type 2 ENG endoglin SMAD9 SMAD family member 9 TBX4 T-box transcription factor 4 ABCA3 ATP binding cassette subfamily A member 3 KCNK3 potassium two pore domain channel subfamily K member 3 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ATP13A3 ATPase 13A3 SOX17 SRY-box transcription factor 17 NOTCH1 notch receptor 1 |
Reports Updated as of Feb 26, 2025 |
PubMed |