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 |
| 171 | Deficiency of steroid 11-beta-monooxygenase Autosomal recessive |
Endocrine disorders |
CYP11B1 cytochrome P450 family 11 subfamily B member 1 |
Reports Updated as of Sep 08, 2025 |
PubMed |
| 172 | Deficiency of steroid 17-alpha-monooxygenase Autosomal recessive |
Endocrine disorders |
CYP17A1 cytochrome P450 family 17 subfamily A member 1 |
Reports Updated as of Sep 08, 2025 |
PubMed |
| 173 | Dentinogenesis imperfecta type 2 Autosomal dominant |
Oral disorders |
DSPP dentin sialophosphoprotein |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 174 | Desmoid disease |
Cancer disorders |
APC APC regulator of WNT signaling pathway |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 175 | Developmental and epileptic encephalopathy, 42 Autosomal dominant |
Neurodevelopmental disorders |
CACNA1A calcium voltage-gated channel subunit alpha1 A |
Reports Updated as of Feb 10, 2026 |
PubMed |
| 176 | Diabetes mellitus, permanent neonatal 4 Autosomal dominant, Autosomal recessive |
Metabolic disorders |
INS insulin |
Reports Updated as of Jan 05, 2026 |
PubMed |
| 177 | Diastrophic dysplasia Autosomal recessive |
Bone disorders |
SLC26A2 solute carrier family 26 member 2 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 178 | Dicarboxylic aminoaciduria Autosomal recessive |
Metabolic disorders |
SLC1A1 solute carrier family 1 member 1 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 179 | Distal arthrogryposis type 5D Autosomal recessive |
Neuromuscular disorders |
ECEL1 endothelin converting enzyme like 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 180 | DNA ligase IV deficiency Autosomal recessive |
Immune disorders |
LIG4 DNA ligase 4 |
Reports Updated as of Jun 12, 2025 |
PubMed |