GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Monogenic disorders list    

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 (Gentigs update)
Modes of inheritance
Category Gene symbol  Links Indian
context
71 Combined oxidative phosphorylation defect type 27  (Jul 20, 2024)
Autosomal recessive
Metabolic disorders CARS2 cysteinyl-tRNA synthetase 2, mitochondrial
PubMed Reports
72 Combined oxidative phosphorylation deficiency 53  (Jul 20, 2024)
Autosomal recessive
Neurodevelopmental disorders C2orf69 chromosome 2 open reading frame 69
PubMed Reports
73 Complex regional pain syndrome  (Mar 09, 2023)
Neuronal disorders TNF tumor necrosis factor
PubMed Reports
74 Congenital amegakaryocytic thrombocytopenia  (Dec 29, 2023)
Autosomal recessive
Blood disorders MPL MPL proto-oncogene, thrombopoietin receptor
PubMed Reports
75 Congenital defect of folate absorption  (Dec 07, 2023)
Autosomal recessive
Metabolic disorders SLC46A1 solute carrier family 46 member 1
PubMed Reports
76 Congenital glaucoma  (Mar 09, 2023)
Autosomal dominant, Autosomal recessive
Eye disorders CYP1B1 cytochrome P450 family 1 subfamily B member 1
PubMed Reports
77 Congenital glucose-galactose malabsorption  (Jul 20, 2024)
Autosomal recessive
Metabolic disorders SLC5A1 solute carrier family 5 member 1
PubMed Reports
78 Congenital plasminogen activator inhibitor type 1 deficiency  (Nov 30, 2023)
Autosomal dominant, Autosomal recessive
Blood disorders SERPINE1 serpin family E member 1
PubMed Reports
79 Congenital primary aphakia  (Nov 30, 2023)
Autosomal recessive
Eye disorders FOXE3 forkhead box E3
PubMed Reports
80 Congenital secretory diarrhea, chloride type  (Dec 07, 2023)
Autosomal recessive
Gastrointestinal disorders SLC26A3 solute carrier family 26 member 3
PubMed Reports