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 |
| 541 | Renpenning syndrome X-linked recessive |
Neurodevelopmental disorders |
PQBP1 polyglutamine binding protein 1 |
Reports Updated as of Nov 12, 2025 |
PubMed |
| 542 | Restrictive dermopathy 1 Autosomal recessive |
Skin disorders |
ZMPSTE24 zinc metallopeptidase STE24 |
Reports Updated as of Aug 17, 2026 |
PubMed |
| 543 | Reticular dysgenesis Autosomal recessive |
Immune disorders |
AK2 adenylate kinase 2 |
Reports Updated as of Sep 08, 2025 |
PubMed |
| 544 | 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 |
| 545 | Salla disease Autosomal recessive |
Metabolic disorders |
SLC17A5 solute carrier family 17 member 5 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 546 | Sandhoff disease Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
HEXB hexosaminidase subunit beta |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 547 | Sarcoidosis Autosomal dominant |
Immune disorders |
BTNL2 butyrophilin like 2 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 548 | Scalp-ear-nipple syndrome Autosomal dominant |
Multisystemic disorders |
KCTD1 potassium channel tetramerization domain containing 1 |
Reports Updated as of Apr 28, 2026 |
PubMed |
| 549 | 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 |
| 550 | Schinzel phocomelia syndrome Autosomal recessive |
Bone disorders |
WNT7A Wnt family member 7A |
Reports Updated as of Mar 30, 2026 |
PubMed |