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 |
| 281 | Nager syndrome Autosomal dominant |
Bone disorders |
SF3B4 splicing factor 3b subunit 4 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 282 | Nail-patella syndrome Autosomal dominant |
Bone disorders |
LMX1B LIM homeobox transcription factor 1 beta |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 283 | Nance-Horan syndrome X-linked recessive |
Eye disorders |
NHS NHS actin remodeling regulator |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 284 | Naxos disease Autosomal recessive |
Cardiovascular disorders |
JUP junction plakoglobin |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 285 | Netherton syndrome Autosomal recessive |
Skin disorders |
SPINK5 serine peptidase inhibitor Kazal type 5 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 286 | Neurofibromatosis type 1 Autosomal dominant |
Bone disorders |
NF1 neurofibromin 1 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 287 | Neurofibromatosis type 2 Autosomal dominant |
Tumor/Cancer |
NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 288 | Neuromyelitis optica spectrum disorder |
Eye disorders |
AQP4 aquaporin 4 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 289 | Neutral lipid storage myopathy Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
PNPLA2 patatin like phospholipase domain containing 2 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 290 | Niemann-Pick disease, type B Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
SMPD1 sphingomyelin phosphodiesterase 1 |
Reports Updated as of Sep 15, 2022 |
PubMed |