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 |
| 481 | Renal coloboma syndrome Autosomal dominant |
Eye disorders |
PAX2 paired box 2 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 482 | Renal tubular acidosis with progressive nerve deafness Autosomal recessive |
Multisystemic disorders |
ATP6V1B1 ATPase H+ transporting V1 subunit B1 |
Reports Updated as of Mar 30, 2026 |
PubMed |
| 483 | Renpenning syndrome X-linked recessive |
Neurodevelopmental disorders |
PQBP1 polyglutamine binding protein 1 |
Reports Updated as of Nov 12, 2025 |
PubMed |
| 484 | Reticular dysgenesis Autosomal recessive |
Immune disorders |
AK2 adenylate kinase 2 |
Reports Updated as of Sep 08, 2025 |
PubMed |
| 485 | Roberts-SC phocomelia syndrome Autosomal recessive |
Bone disorders |
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 |
Reports Updated as of Jan 05, 2026 |
PubMed |
| 486 | Salla disease Autosomal recessive |
Metabolic disorders |
SLC17A5 solute carrier family 17 member 5 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 487 | Sandhoff disease Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
HEXB hexosaminidase subunit beta |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 488 | Sarcoidosis Autosomal dominant |
Immune disorders |
BTNL2 butyrophilin like 2 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 489 | Scalp-ear-nipple syndrome Autosomal dominant |
Multisystemic disorders |
KCTD1 potassium channel tetramerization domain containing 1 |
Reports Updated as of Apr 28, 2026 |
PubMed |
| 490 | Schimke immuno-osseous dysplasia Autosomal recessive |
Bone disorders |
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |