List of monogenic disorders and their associated genes(Heterogeneity and
Homogeneity)
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in any one across of 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 |
| 181 | Deficiency of ferroxidase Autosomal recessive |
Metabolic disorders |
CP ceruloplasmin |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 182 | Deficiency of galactokinase Autosomal recessive |
Metabolic disorders |
GALK1 galactokinase 1 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 183 | Deficiency of guanidinoacetate methyltransferase Autosomal recessive |
Metabolic disorders |
GAMT guanidinoacetate N-methyltransferase |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 184 | Deficiency of hyaluronoglucosaminidase Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
HYAL1 hyaluronidase 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 185 | Deficiency of ribose-5-phosphate isomerase Autosomal recessive |
Metabolic disorders |
RPIA ribose 5-phosphate isomerase A |
Reports Updated as of Jan 05, 2026 |
PubMed |
| 186 | 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 |
| 187 | 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 |
| 188 | Dentinogenesis imperfecta type 2 Autosomal dominant |
Oral disorders |
DSPP dentin sialophosphoprotein |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 189 | Desmoid disease |
Cancer disorders |
APC APC regulator of WNT signaling pathway |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 190 | Developmental and epileptic encephalopathy 6B Autosomal dominant |
Neurodevelopmental disorders |
SCN1A sodium voltage-gated channel alpha subunit 1 |
Reports Updated as of Aug 17, 2026 |
PubMed |