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 |