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
91 Deficiency of acetyl-CoA acetyltransferase  (Feb 20, 2024)
Autosomal recessive
Metabolic disorders ACAT1 acetyl-CoA acetyltransferase 1
PubMed Reports
92 Deficiency of butyrylcholinesterase  (Feb 20, 2024)
Autosomal recessive
Metabolic disorders BCHE butyrylcholinesterase
PubMed Reports
93 Deficiency of ferroxidase  (Mar 09, 2023)
Autosomal recessive
Metabolic disorders CP ceruloplasmin
PubMed Reports
94 Deficiency of galactokinase  (Sep 05, 2023)
Autosomal recessive
Metabolic disorders GALK1 galactokinase 1
PubMed Reports
95 Deficiency of guanidinoacetate methyltransferase  (Feb 20, 2024)
Autosomal recessive
Metabolic disorders GAMT guanidinoacetate N-methyltransferase
PubMed Reports
96 Dentinogenesis imperfecta type 2  (Sep 15, 2022)
Autosomal dominant
Oral disorders DSPP dentin sialophosphoprotein
PubMed Reports
97 Desmoid disease  (Dec 29, 2023)
Cancer disorders APC APC regulator of WNT signaling pathway
PubMed Reports
98 Diastrophic dysplasia  (Sep 15, 2022)
Autosomal recessive
Bone disorders SLC26A2 solute carrier family 26 member 2
PubMed Reports
99 Dicarboxylic aminoaciduria  (Dec 29, 2023)
Autosomal recessive
Metabolic disorders SLC1A1 solute carrier family 1 member 1
PubMed Reports
100 Dihydropyrimidinase deficiency  (Feb 20, 2024)
Autosomal recessive
Metabolic disorders DPYS dihydropyrimidinase
PubMed Reports