Autosomal dominant, Autosomal recessive, X-linked recessive, X-linked dominant
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=1) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Charcot-Marie-Tooth disease |
• Charcot Marie Tooth |
Neuromuscular disorders |
FGD4 FYVE, RhoGEF and PH domain containing 4 MED25 mediator complex subunit 25 FIG4 FIG4 phosphoinositide 5-phosphatase MFN2 mitofusin 2 SH3TC2 SH3 domain and tetratricopeptide repeats 2 HSPB8 heat shock protein family B (small) member 8 SBF2 SET binding factor 2 GDAP1 ganglioside induced differentiation associated protein 1 KIF1B kinesin family member 1B PRX periaxin TRPV4 transient receptor potential cation channel subfamily V member 4 NDRG1 N-myc downstream regulated 1 LITAF lipopolysaccharide induced TNF factor YARS1 tyrosyl-tRNA synthetase 1 MTMR2 myotubularin related protein 2 DNM2 dynamin 2 RAB7A RAB7A, member RAS oncogene family HSPB1 heat shock protein family B (small) member 1 KARS1 lysyl-tRNA synthetase 1 PMP22 peripheral myelin protein 22 IGHMBP2 immunoglobulin mu DNA binding protein 2 GARS1 glycyl-tRNA synthetase 1 PRPS1 phosphoribosyl pyrophosphate synthetase 1 GJB1 gap junction protein beta 1 NEFL neurofilament light chain MPZ myelin protein zero LMNA lamin A/C EGR2 early growth response 2 RETREG1 reticulophagy regulator 1 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 INF2 inverted formin 2 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 AIFM1 apoptosis inducing factor mitochondria associated 1 HK1 hexokinase 1 GNB4 G protein subunit beta 4 SBF1 SET binding factor 1 PDK3 pyruvate dehydrogenase kinase 3 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 TRIM2 tripartite motif containing 2 COX6A1 cytochrome c oxidase subunit 6A1 GAN gigaxonin ARHGEF10 Rho guanine nucleotide exchange factor 10 MARS1 methionyl-tRNA synthetase 1 NAGLU N-acetyl-alpha-glucosaminidase DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 SPG11 SPG11 vesicle trafficking associated, spatacsin SURF1 SURF1 cytochrome c oxidase assembly factor VCP valosin containing protein MORC2 MORC family CW-type zinc finger 2 NEFH neurofilament heavy chain BSCL2 BSCL2 lipid droplet biogenesis associated, seipin MME membrane metalloendopeptidase ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 NTRK1 neurotrophic receptor tyrosine kinase 1 PMP2 peripheral myelin protein 2 MPV17 mitochondrial inner membrane protein MPV17 HINT1 histidine triad nucleotide binding protein 1 WNK1 WNK lysine deficient protein kinase 1 SPTLC2 serine palmitoyltransferase long chain base subunit 2 DNMT1 DNA methyltransferase 1 SEPTIN9 septin 9 CADM3 cell adhesion molecule 3 HSPB3 heat shock protein family B (small) member 3 KIF5A kinesin family member 5A SLC5A7 solute carrier family 5 member 7 JAG1 jagged canonical Notch ligand 1 POLR3B RNA polymerase III subunit B FBLN5 fibulin 5 SLC12A6 solute carrier family 12 member 6 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 DHX9 DExH-box helicase 9 |
Reports Updated as of Mar 09, 2023 |
PubMed |