Autosomal dominant, Autosomal recessive, X-linked dominant, Mitochondrial inheritance
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=1) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Retinitis pigmentosa |
• Tapetoretinal degeneration |
Eye disorders |
FAM161A FAM161 centrosomal protein A PCARE photoreceptor cilium actin regulator EYS eyes shut homolog KLHL7 kelch like family member 7 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ARL6 ADP ribosylation factor like GTPase 6 RDH12 retinol dehydrogenase 12 USH2A usherin CERKL ceramide kinase like TTC8 tetratricopeptide repeat domain 8 BEST1 bestrophin 1 PRPF3 pre-mRNA processing factor 3 PRPF8 pre-mRNA processing factor 8 IMPG2 interphotoreceptor matrix proteoglycan 2 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) PRPF31 pre-mRNA processing factor 31 LRAT lecithin retinol acyltransferase MERTK MER proto-oncogene, tyrosine kinase IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta NR2E3 nuclear receptor subfamily 2 group E member 3 PROM1 prominin 1 CRB1 crumbs cell polarity complex component 1 RP1 RP1 axonemal microtubule associated TULP1 TUB like protein 1 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 CNGB1 cyclic nucleotide gated channel subunit beta 1 RGR retinal G protein coupled receptor RPGR retinitis pigmentosa GTPase regulator RP2 RP2 activator of ARL3 GTPase ROM1 retinal outer segment membrane protein 1 RHO rhodopsin PDE6G phosphodiesterase 6G PDE6B phosphodiesterase 6B PDE6A phosphodiesterase 6A PRPH2 peripherin 2 NRL neural retina leucine zipper IMPDH1 inosine monophosphate dehydrogenase 1 CNGA1 cyclic nucleotide gated channel subunit alpha 1 CA4 carbonic anhydrase 4 MAK male germ cell associated kinase CLRN1 clarin 1 DHDDS dehydrodolichyl diphosphate synthase subunit CFAP418 cilia and flagella associated protein 418 PRCD photoreceptor disc component CDHR1 cadherin related family member 1 RBP3 retinol binding protein 3 RP1L1 RP1 like 1 ARL2BP ADP ribosylation factor like GTPase 2 binding protein NEK2 NIMA related kinase 2 OFD1 OFD1 centriole and centriolar satellite protein SLC7A14 solute carrier family 7 member 14 KIZ kizuna centrosomal protein PRPF4 pre-mRNA processing factor 4 MYO7A myosin VIIA CRX cone-rod homeobox PRPF6 pre-mRNA processing factor 6 RDH11 retinol dehydrogenase 11 IFT140 intraflagellar transport 140 PANK2 pantothenate kinase 2 IFT172 intraflagellar transport 172 ZNF408 zinc finger protein 408 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase BBS2 Bardet-Biedl syndrome 2 TRNT1 tRNA nucleotidyl transferase 1 AGBL5 AGBL carboxypeptidase 5 RCBTB1 RCC1 and BTB domain containing protein 1 RLBP1 retinaldehyde binding protein 1 SEMA4A semaphorin 4A ZNF513 zinc finger protein 513 SAG S-antigen visual arrestin GUCA1B guanylate cyclase activator 1B PCDH15 protocadherin related 15 CDH23 cadherin related 23 AIPL1 aryl hydrocarbon receptor interacting protein like 1 SPATA7 spermatogenesis associated 7 REEP6 receptor accessory protein 6 ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 HK1 hexokinase 1 SCAPER S-phase cyclin A associated protein in the ER CYP4V2 cytochrome P450 family 4 subfamily V member 2 AHI1 Abelson helper integration site 1 BBS1 Bardet-Biedl syndrome 1 BBS10 Bardet-Biedl syndrome 10 CEP290 centrosomal protein 290 RPGRIP1 RPGR interacting protein 1 CFAP410 cilia and flagella associated protein 410 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin COL18A1 collagen type XVIII alpha 1 chain EXOSC2 exosome component 2 IFT43 intraflagellar transport 43 VSX2 visual system homeobox 2 TTLL5 tubulin tyrosine ligase like 5 SLC24A1 solute carrier family 24 member 1 ARL3 ADP ribosylation factor like GTPase 3 DHX38 DEAH-box helicase 38 POC5 POC5 centriolar protein AHR aryl hydrocarbon receptor ADGRV1 adhesion G protein-coupled receptor V1 CHM CHM Rab escort protein CACNA1F calcium voltage-gated channel subunit alpha1 F ALMS1 ALMS1 centrosome and basal body associated protein BBS12 Bardet-Biedl syndrome 12 BBS9 Bardet-Biedl syndrome 9 RDH5 retinol dehydrogenase 5 CDH3 cadherin 3 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 KIAA1549 KIAA1549 P3H2 prolyl 3-hydroxylase 2 GNAT1 G protein subunit alpha transducin 1 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha BBS7 Bardet-Biedl syndrome 7 LCA5 lebercilin LCA5 VPS13B vacuolar protein sorting 13 homolog B CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 CLCC1 chloride channel CLIC like 1 KIF3B kinesin family member 3B NPHP4 nephrocystin 4 KIF11 kinesin family member 11 HKDC1 hexokinase domain containing 1 CC2D2A coiled-coil and C2 domain containing 2A RAX2 retina and anterior neural fold homeobox 2 |
Reports Updated as of Mar 09, 2023 |
PubMed |