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 |
| 511 | Sphingolipid activator protein 1 deficiency Autosomal recessive |
Metabolic disorders |
PSAP prosaposin |
Reports Updated as of Feb 10, 2026 |
PubMed |
| 512 | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Autosomal recessive |
Neuromuscular disorders |
ASAH1 N-acylsphingosine amidohydrolase 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 513 | Spinocerebellar ataxia 12 Autosomal dominant |
Neurodegenerative disorders |
PPP2R2B protein phosphatase 2 regulatory subunit Bbeta |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 514 | Spinocerebellar ataxia 46 Autosomal dominant |
Neurodegenerative disorders |
PLD3 phospholipase D family member 3 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| 515 | Spinocerebellar ataxia type 1 Autosomal dominant |
Neurodegenerative disorders |
ATXN1 ataxin 1 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| 516 | Spinocerebellar ataxia type 10 Autosomal dominant |
Neurodegenerative disorders |
ATXN10 ataxin 10 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| 517 | Spinocerebellar ataxia type 14 Autosomal dominant |
Neurodegenerative disorders |
PRKCG protein kinase C gamma |
Reports Updated as of Apr 17, 2024 |
PubMed |
| 518 | Spinocerebellar ataxia type 16 Autosomal recessive |
Neurodegenerative disorders |
ITPR1 inositol 1,4,5-trisphosphate receptor type 1 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| 519 | Spinocerebellar ataxia type 17 Autosomal dominant |
Neurodegenerative disorders |
TBP TATA-box binding protein |
Reports Updated as of Apr 17, 2024 |
PubMed |
| 520 | Spinocerebellar ataxia type 18 Autosomal dominant |
Neurodegenerative disorders |
IFRD1 interferon related developmental regulator 1 |
Reports Updated as of Apr 17, 2024 |
PubMed |