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 |
| 171 | Multicystic dysplastic kidneys |
Nephrological disorders |
HNF1B HNF1 homeobox B PAX2 paired box 2 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 172 | Multiminicore myopathy Autosomal dominant, Autosomal recessive |
Neuromuscular disorders |
RYR1 ryanodine receptor 1 TTN titin |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 173 | Multiple acyl-CoA dehydrogenase deficiency Autosomal recessive |
Metabolic disorders |
ETFDH electron transfer flavoprotein dehydrogenase ETFA electron transfer flavoprotein subunit alpha FLAD1 flavin adenine dinucleotide synthetase 1 ETFB electron transfer flavoprotein subunit beta MADD MAP kinase activating death domain |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 174 | Multiple endocrine neoplasia, type 1 Autosomal dominant |
Cancer disorders |
MEN1 menin 1 CDC73 cell division cycle 73 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 175 | Multiple myeloma Somatic mutation |
Cancer disorders |
FGFR3 fibroblast growth factor receptor 3 BRAF B-Raf proto-oncogene, serine/threonine kinase TP53 tumor protein p53 TRAF5 TNF receptor associated factor 5 CDKN2C cyclin dependent kinase inhibitor 2C BARD1 BRCA1 associated RING domain 1 HDAC4 histone deacetylase 4 DNMT3A DNA methyltransferase 3 alpha TET3 tet methylcytosine dioxygenase 3 CRBN cereblon MST1R macrophage stimulating 1 receptor BAP1 BRCA1 associated protein 1 TET2 tet methylcytosine dioxygenase 2 FAT1 FAT atypical cadherin 1 IL7R interleukin 7 receptor SGK1 serum/glucocorticoid regulated kinase 1 LATS1 large tumor suppressor kinase 1 H3C1 H3 clustered histone 1 H1-4 H1.4 linker histone, cluster member H2AC16 H2A clustered histone 16 H2AC17 H2A clustered histone 17 KMT2C lysine methyltransferase 2C RXRA retinoid X receptor alpha YAP1 Yes1 associated transcriptional regulator ATM ATM serine/threonine kinase SH2B3 SH2B adaptor protein 3 NCOR2 nuclear receptor corepressor 2 FLT3 fms related receptor tyrosine kinase 3 DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease NKX2-1 NK2 homeobox 1 ARID4A AT-rich interaction domain 4A MGA MAX dimerization protein MGA CREBBP CREB binding protein CYLD CYLD lysine 63 deubiquitinase NF1 neurofibromin 1 TCF3 transcription factor 3 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ERF ETS2 repressor factor SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 AURKA aurora kinase A BCORL1 BCL6 corepressor like 1 EIF1AX eukaryotic translation initiation factor 1A X-linked KDM5C lysine demethylase 5C P2RY8 P2Y receptor family member 8 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 176 | Multiple sulfatase deficiency Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
SUMF1 sulfatase modifying factor 1 SUMF2 sulfatase modifying factor 2 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 177 | Myelodysplastic syndrome |
Blood disorders |
MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G) MT-CO1 mitochondrially encoded cytochrome c oxidase I GATA2 GATA binding protein 2 NRAS NRAS proto-oncogene, GTPase SF3B1 splicing factor 3b subunit 1 FLT3 fms related receptor tyrosine kinase 3 DNMT3A DNA methyltransferase 3 alpha IDH1 isocitrate dehydrogenase (NADP(+)) 1 IDH2 isocitrate dehydrogenase (NADP(+)) 2 TET2 tet methylcytosine dioxygenase 2 DDX41 DEAD-box helicase 41 ASXL1 ASXL transcriptional regulator 1 SAMD9 sterile alpha motif domain containing 9 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 178 | Myeloproliferative disorder |
Blood disorders |
FGFR3 fibroblast growth factor receptor 3 DNMT3A DNA methyltransferase 3 alpha PDGFRB platelet derived growth factor receptor beta |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 179 | Nephronophthisis Autosomal recessive |
Nephrological disorders |
XPNPEP3 X-prolyl aminopeptidase 3 TMEM67 transmembrane protein 67 NEK8 NIMA related kinase 8 NPHP3 nephrocystin 3 NPHP4 nephrocystin 4 NPHP1 nephrocystin 1 WDR19 WD repeat domain 19 TTC21B tetratricopeptide repeat domain 21B CEP164 centrosomal protein 164 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 GLIS2 GLIS family zinc finger 2 CEP83 centrosomal protein 83 DCDC2 doublecortin domain containing 2 RPGRIP1L RPGRIP1 like IQCB1 IQ motif containing B1 INVS inversin MAPKBP1 mitogen-activated protein kinase binding protein 1 RBM48 RNA binding motif protein 48 INCENP inner centromere protein FAM186B family with sequence similarity 186 member B PIAS1 protein inhibitor of activated STAT 1 CEP290 centrosomal protein 290 ZNF423 zinc finger protein 423 AHI1 Abelson helper integration site 1 RMND1 required for meiotic nuclear division 1 homolog MKKS MKKS centrosomal shuttling protein SLC41A1 solute carrier family 41 member 1 ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9 |
Reports Updated as of Nov 02, 2023 |
PubMed |
| 180 | Neuroblastoma |
Cancer disorders |
KIF1B kinesin family member 1B PHOX2B paired like homeobox 2B ALK ALK receptor tyrosine kinase FGFR1 fibroblast growth factor receptor 1 MYC MYC proto-oncogene, bHLH transcription factor BRCA2 BRCA2 DNA repair associated SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 PTCH1 patched 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |