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 |
| 221 | Pulmonary venoocclusive disease Autosomal recessive |
Respiratory disorders |
BMPR2 bone morphogenetic protein receptor type 2 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 222 | Pyruvate dehydrogenase E1-alpha deficiency X-linked recessive |
Metabolic disorders |
PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 PDHX pyruvate dehydrogenase complex component X |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 223 | Retinitis pigmentosa Autosomal dominant, Autosomal recessive, X-linked dominant, MT inheritance |
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 |
| 224 | Retinoblastoma Autosomal dominant |
Eye disorders |
RB1 RB transcriptional corepressor 1 FANCM FA complementation group M |
Reports Updated as of Nov 02, 2023 |
PubMed |
| 225 | Rett syndrome X-linked recessive |
Neurodevelopmental disorders |
MECP2 methyl-CpG binding protein 2 FOXG1 forkhead box G1 CDKL5 cyclin dependent kinase like 5 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 RHOBTB2 Rho related BTB domain containing 2 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 226 | Rhizomelic chondrodysplasia punctata Autosomal recessive |
Developmental / Multisystemic disorders |
AGPS alkylglycerone phosphate synthase GNPAT glyceronephosphate O-acyltransferase PEX7 peroxisomal biogenesis factor 7 PEX5 peroxisomal biogenesis factor 5 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 227 | Rubinstein-Taybi syndrome due to CREBBP mutations Autosomal dominant |
Multisystemic disorders |
CREBBP CREB binding protein EP300 E1A binding protein p300 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| 228 | Schwannomatosis Autosomal dominant |
Cancer disorders |
NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 LZTR1 leucine zipper like post translational regulator 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 229 | Sclerosteosis Autosomal recessive |
Bone disorders |
SOST sclerostin LRP4 LDL receptor related protein 4 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 230 | Senior-Loken syndrome Autosomal recessive |
Eye disorders |
SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 CEP290 centrosomal protein 290 IQCB1 IQ motif containing B1 NPHP4 nephrocystin 4 WDR19 WD repeat domain 19 TRAF3IP1 TRAF3 interacting protein 1 NPHP1 nephrocystin 1 |
Reports Updated as of Dec 29, 2023 |
PubMed |