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 |
| 1 | 3 beta-Hydroxysteroid dehydrogenase deficiency Autosomal recessive |
Endocrine disorders |
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
Reports Updated as of Sep 08, 2025 |
PubMed |
| 2 | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Autosomal recessive |
Metabolic disorders |
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 3 | 3-methylglutaconic aciduria type 1 Autosomal recessive |
Metabolic disorders |
AUH AU RNA binding methylglutaconyl-CoA hydratase |
Reports Updated as of Jan 05, 2026 |
PubMed |
| 4 | 3-Methylglutaconic aciduria type 2 X-linked dominant |
Metabolic disorders |
TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 5 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Autosomal recessive |
Reproductive disorders |
SRD5A2 steroid 5 alpha-reductase 2 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 6 | 3M syndrome 2 Autosomal recessive |
Bone disorders |
OBSL1 obscurin like cytoskeletal adaptor 1 |
Reports Updated as of Jan 05, 2026 |
PubMed |
| 7 | 8q24.3 microdeletion syndrome Autosomal dominant |
Multisystemic disorders |
PUF60 poly(U) binding splicing factor 60 |
Reports Updated as of Sep 08, 2025 |
PubMed |
| 8 | Abetalipoproteinaemia Autosomal recessive |
Metabolic disorders |
MTTP microsomal triglyceride transfer protein |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 9 | Achondroplasia Autosomal dominant |
Bone disorders |
FGFR3 fibroblast growth factor receptor 3 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 10 | Acid sphingomyelinase deficiency Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
SMPD1 sphingomyelin phosphodiesterase 1 |
Reports Updated as of Jan 05, 2026 |
PubMed |