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.
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.
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=5) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Chronic granulomatous disease (AR, XLD) |
Immune disorders |
CYBB cytochrome b-245 beta chain NCF4 neutrophil cytosolic factor 4 NCF2 neutrophil cytosolic factor 2 |
Reports | PubMed | |
| Fanconi anemia (AR, XLD) |
Bone disorders |
FANCI FA complementation group I PALB2 partner and localizer of BRCA2 FANCL FA complementation group L FANCA FA complementation group A BRIP1 BRCA1 interacting helicase 1 FANCF FA complementation group F FANCG FA complementation group G RAD51C RAD51 paralog C FANCE FA complementation group E BRCA2 BRCA2 DNA repair associated FANCB FA complementation group B FANCD2 FA complementation group D2 FANCC FA complementation group C XRCC2 X-ray repair cross complementing 2 SLX4 SLX4 structure-specific endonuclease subunit ERCC4 ERCC excision repair 4, endonuclease catalytic subunit UBE2T ubiquitin conjugating enzyme E2 T BRCA1 BRCA1 DNA repair associated FANCM FA complementation group M RAD51 RAD51 recombinase MAD2L2 mitotic arrest deficient 2 like 2 RFWD3 ring finger and WD repeat domain 3 ZNF469 zinc finger protein 469 DCLRE1B DNA cross-link repair 1B |
Reports | PubMed | |
| Galloway-Mowat syndrome (AR, XLD) |
•Galloway syndrome •Microcephaly-hiatus hernia-nephrotic syndrome |
Nephrological disorders |
WDR73 WD repeat domain 73 WDR4 WD repeat domain 4 LAGE3 L antigen family member 3 TP53RK TP53 regulating kinase TPRKB TP53RK binding protein OSGEP O-sialoglycoprotein endopeptidase NUP133 nucleoporin 133 NUP107 nucleoporin 107 GON7 GON7 subunit of KEOPS complex YRDC yrdC N6-threonylcarbamoyltransferase domain containing |
Reports | PubMed |
| Joubert syndrome (AR, XLD) |
Neurodevelopmental disorders |
TMEM216 transmembrane protein 216 INPP5E inositol polyphosphate-5-phosphatase E CC2D2A coiled-coil and C2 domain containing 2A RPGRIP1L RPGRIP1 like CEP290 centrosomal protein 290 TMEM67 transmembrane protein 67 ARL13B ADP ribosylation factor like GTPase 13B AHI1 Abelson helper integration site 1 OFD1 OFD1 centriole and centriolar satellite protein TCTN1 tectonic family member 1 CEP41 centrosomal protein 41 KIF7 kinesin family member 7 TMEM237 transmembrane protein 237 TMEM138 transmembrane protein 138 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 TCTN3 tectonic family member 3 ZNF423 zinc finger protein 423 TMEM231 transmembrane protein 231 CSPP1 centrosome and spindle pole associated protein 1 PDE6D phosphodiesterase 6D KIAA0586 KIAA0586 TCTN2 tectonic family member 2 CEP104 centrosomal protein 104 MKS1 MKS transition zone complex subunit 1 B9D1 B9 domain containing 1 LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1 NPHP1 nephrocystin 1 SLC30A7 solute carrier family 30 member 7 MICALL2 MICAL like 2 CEP120 centrosomal protein 120 SUFU SUFU negative regulator of hedgehog signaling PIBF1 progesterone immunomodulatory binding factor 1 KATNIP katanin interacting protein ARMC9 armadillo repeat containing 9 ARL3 ADP ribosylation factor like GTPase 3 FAM149B1 family with sequence similarity 149 member B1 TOGARAM1 TOG array regulator of axonemal microtubules 1 KIAA0753 KIAA0753 IFT74 intraflagellar transport 74 NPHP3 nephrocystin 3 TMEM218 transmembrane protein 218 KIF14 kinesin family member 14 B9D2 B9 domain containing 2 |
Reports | PubMed | |
| Subcortical band heterotopia (AR, XLD) |
•Subcortical laminar heterotopia |
Neurodevelopmental disorders |
PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 DCX doublecortin |
Reports | PubMed |