Autosomal recessive, X-linked dominant
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=5) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Chronic granulomatous disease | Immune disorders |
CYBB cytochrome b-245 beta chain NCF4 neutrophil cytosolic factor 4 NCF2 neutrophil cytosolic factor 2 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Joubert syndrome | 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 Updated as of May 24, 2023 |
PubMed | |
| Fanconi anemia | 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 Updated as of Sep 05, 2023 |
PubMed | |
| Galloway-Mowat syndrome |
• 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 Updated as of Dec 07, 2023 |
PubMed |
| Subcortical band heterotopia |
• Subcortical laminar heterotopia |
Neurodevelopmental disorders |
PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 DCX doublecortin |
Reports Updated as of Dec 29, 2023 |
PubMed |