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 (Gentigs update) Modes of inheritance |
Category | Gene symbol | Links | Indian context |
| 221 | Myotonic dystrophy type 2 (Nov 30, 2023) Autosomal dominant |
Neuromuscular disorders |
CNBP CCHC-type zinc finger nucleic acid binding protein |
PubMed | Reports |
| 222 | Naegeli-Franceschetti-Jadassohn syndrome (Feb 01, 2024) Autosomal dominant |
Skin disorders |
KRT14 keratin 14 |
PubMed | Reports |
| 223 | Nager syndrome (Feb 01, 2024) Autosomal dominant |
Bone disorders |
SF3B4 splicing factor 3b subunit 4 |
PubMed | Reports |
| 224 | Nail-patella syndrome (Feb 01, 2024) Autosomal dominant |
Bone disorders |
LMX1B LIM homeobox transcription factor 1 beta |
PubMed | Reports |
| 225 | Nance-Horan syndrome (Feb 01, 2024) X-linked recessive |
Eye disorders |
NHS NHS actin remodeling regulator |
PubMed | Reports |
| 226 | Naxos disease (Feb 01, 2024) Autosomal recessive |
Cardiovascular disorders |
JUP junction plakoglobin |
PubMed | Reports |
| 227 | Netherton syndrome (Mar 09, 2023) Autosomal recessive |
Skin disorders |
SPINK5 serine peptidase inhibitor Kazal type 5 |
PubMed | Reports |
| 228 | Neurofibromatosis type 1 (Sep 05, 2023) Autosomal dominant |
Bone disorders |
NF1 neurofibromin 1 |
PubMed | Reports |
| 229 | Neurofibromatosis type 2 (Sep 05, 2023) Autosomal dominant |
Tumor/Cancer |
NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
PubMed | Reports |
| 230 | Neuromyelitis optica spectrum disorder (Sep 05, 2023) |
Eye disorders |
AQP4 aquaporin 4 |
PubMed | Reports |