Autosomal dominant, Autosomal recessive, X-linked recessive
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=3) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Congenital stationary night blindness |
• Early-onset non-progressive night blindness • CSNB - Congenital stationary night blindness • Congenital stationary night blindness |
Eye disorders |
GRM6 glutamate metabotropic receptor 6 TRPM1 transient receptor potential cation channel subfamily M member 1 NYX nyctalopin CACNA1F calcium voltage-gated channel subunit alpha1 F RHO rhodopsin PDE6B phosphodiesterase 6B GNAT1 G protein subunit alpha transducin 1 SLC24A1 solute carrier family 24 member 1 GPR179 G protein-coupled receptor 179 LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 GNB3 G protein subunit beta 3 ABCA4 ATP binding cassette subfamily A member 4 RPGR retinitis pigmentosa GTPase regulator GRK1 G protein-coupled receptor kinase 1 |
Reports Updated as of Mar 30, 2026 |
PubMed |
| Alport syndrome |
• Alport hearing loss-nephropathy • Congenital hereditary hematuria • Hemorrhagic familial nephritis • Hemorrhagic hereditary nephritis • Alport deafness-nephropathy |
Nephrological disorders |
COL4A5 collagen type IV alpha 5 chain COL4A4 collagen type IV alpha 4 chain COL4A3 collagen type IV alpha 3 chain |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Early infantile epileptic encephalopathy with suppression bursts |
• Developmental and epileptic encephalopathy • Ohtahara syndrome • Early infantile epileptic encephalopathy • infantile spasm • early infantile epileptic encephalopathy with burst-suppression • early infantile epileptic encephalopathy with suppression-bursts • epileptic encephalopathy, early infantile • epileptic encephalopathy, infantile • infantile epileptic encephalopathy • DEE • EIEE |
Neurodevelopmental disorders |
KCNQ2 potassium voltage-gated channel subfamily Q member 2 KCNH5 potassium voltage-gated channel subfamily H member 5 SCN1A sodium voltage-gated channel alpha subunit 1 SCN8A sodium voltage-gated channel alpha subunit 8 STXBP1 syntaxin binding protein 1 SPTAN1 spectrin alpha, non-erythrocytic 1 SLC25A22 solute carrier family 25 member 22 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 GNAO1 G protein subunit alpha o1 PIGP phosphatidylinositol glycan anchor biosynthesis class P ARHGEF15 Rho guanine nucleotide exchange factor 15 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 CDKL5 cyclin dependent kinase like 5 GOT2 glutamic-oxaloacetic transaminase 2 KCNB1 potassium voltage-gated channel subfamily B member 1 SNAP25 synaptosome associated protein 25 SCN2A sodium voltage-gated channel alpha subunit 2 CACNA1E calcium voltage-gated channel subunit alpha1 E KCNC2 potassium voltage-gated channel subfamily C member 2 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ANO4 anoctamin 4 UBA5 ubiquitin like modifier activating enzyme 5 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 |
Reports Updated as of Feb 26, 2025 |
PubMed |