GenTIGS

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
91	Fibromylagia	Pain syndrome	TRPV2 transient receptor potential cation channel subfamily V member 2 MYT1L myelin transcription factor 1 like NRXN3 neurexin 3	Reports Updated as of Mar 09, 2023	PubMed
92	Finnish congenital nephrotic syndrome Autosomal recessive	Nephrological disorders	NPHS1 NPHS1 adhesion molecule, nephrin FAT1 FAT atypical cadherin 1	Reports Updated as of Mar 09, 2023	PubMed
93	Fraser syndrome Autosomal recessive	Eye disorders	FREM2 FRAS1 related extracellular matrix 2 FRAS1 Fraser extracellular matrix complex subunit 1 GRIP1 glutamate receptor interacting protein 1	Reports Updated as of Dec 07, 2023	PubMed
94	Frontotemporal dementia Autosomal dominant	Neurodegenerative disorders	CHMP2B charged multivesicular body protein 2B TARDBP TAR DNA binding protein MAPT microtubule associated protein tau PSEN1 presenilin 1 VCP valosin containing protein C9orf72 C9orf72-SMCR8 complex subunit CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 SQSTM1 sequestosome 1 TBK1 TANK binding kinase 1 GRN granulin precursor MEF2C myocyte enhancer factor 2C CSF1R colony stimulating factor 1 receptor VPS13C vacuolar protein sorting 13 homolog C ABCA7 ATP binding cassette subfamily A member 7 KIF5A kinesin family member 5A CCNF cyclin F CYLD CYLD lysine 63 deubiquitinase TREM2 triggering receptor expressed on myeloid cells 2 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 OPTN optineurin CHRNB4 cholinergic receptor nicotinic beta 4 subunit GLT8D1 glycosyltransferase 8 domain containing 1	Reports Updated as of Nov 30, 2023	PubMed
95	Fucosidosis Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	FUCA1 alpha-L-fucosidase 1 DCX doublecortin	Reports Updated as of Dec 07, 2023	PubMed
96	Galactosemia Autosomal recessive	Metabolic disorders	GALT galactose-1-phosphate uridylyltransferase GALM galactose mutarotase	Reports Updated as of Sep 05, 2023	PubMed
97	Galloway-Mowat syndrome Autosomal recessive, X-linked dominant	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
98	Gastrointestinal stroma tumor Autosomal dominant	Cancer disorders	PDGFRA platelet derived growth factor receptor alpha KIT KIT proto-oncogene, receptor tyrosine kinase SDHB succinate dehydrogenase complex iron sulfur subunit B SDHC succinate dehydrogenase complex subunit C SDHA succinate dehydrogenase complex flavoprotein subunit A	Reports Updated as of Dec 07, 2023	PubMed
99	Gaucher disease Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	GBA1 glucosylceramidase beta 1 PSAP prosaposin MSH6 mutS homolog 6	Reports Updated as of Mar 09, 2023	PubMed
100	Glanzmann thrombasthenia Autosomal recessive	Blood disorders	ITGA2B integrin subunit alpha 2b ITGB3 integrin subunit beta 3	Reports Updated as of Dec 07, 2023	PubMed

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