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 |
| 401 | Neurofibromatosis type 2 Autosomal dominant |
Tumor/Cancer |
NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 402 | Neuromyelitis optica spectrum disorder |
Eye disorders |
AQP4 aquaporin 4 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 403 | Neutral 1 amino acid transport defect Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
SLC6A19 solute carrier family 6 member 19 |
Reports Updated as of Mar 30, 2026 |
PubMed |
| 404 | 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 |
| 405 | Niemann-Pick disease, type B Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
SMPD1 sphingomyelin phosphodiesterase 1 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 406 | Nut midline carcinoma |
Cancer disorders |
NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic |
Reports Updated as of Mar 30, 2026 |
PubMed |
| 407 | Obesity due to congenital leptin deficiency Autosomal recessive |
Endocrine disorders |
LEP leptin |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 408 | Ocular cystinosis Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
CTNS cystinosin, lysosomal cystine transporter |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 409 | Oculodentodigital dysplasia Autosomal dominant |
Bone disorders |
GJA1 gap junction protein alpha 1 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 410 | Oligodendroglioma |
Cancer disorders |
CIC capicua transcriptional repressor |
Reports Updated as of Jan 04, 2024 |
PubMed |