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 |
| 351 | Schnyder crystalline corneal dystrophy Autosomal dominant |
Eye disorders |
UBIAD1 UbiA prenyltransferase domain containing 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 352 | Schuurs-Hoeijmakers syndrome Autosomal dominant |
Neurodevelopmental disorders |
PACS1 phosphofurin acidic cluster sorting protein 1 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 353 | Schwartz-Jampel syndrome Autosomal recessive |
Bone disorders |
HSPG2 heparan sulfate proteoglycan 2 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 354 | Scleroderma |
Immune disorders |
EXOSC10 exosome component 10 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 355 | Sea-blue histiocyte syndrome Autosomal dominant |
Metabolic disorders/Lysosomal storage disorders |
APOE apolipoprotein E |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 356 | Severe congenital nemaline myopathy Autosomal recessive |
Neuromuscular disorders |
KLHL40 kelch like family member 40 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 357 | Sezary syndrome |
Cancer disorders |
BCL10 BCL10 immune signaling adaptor |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 358 | SHORT syndrome Autosomal dominant |
Endocrine disorders |
PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 359 | Shprintzen-Goldberg syndrome Autosomal dominant |
Bone disorders |
SKI SKI proto-oncogene |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 360 | Sialidosis type 2 Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
NEU1 neuraminidase 1 |
Reports Updated as of Sep 05, 2023 |
PubMed |