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 |
| 61 | CEDNIK syndrome (Nov 30, 2023) Autosomal recessive |
Skin disorders |
SNAP29 synaptosome associated protein 29 |
PubMed | Reports |
| 62 | Cenani-Lenz syndactyly syndrome (Nov 30, 2023) Autosomal recessive |
Bone disorders |
LRP4 LDL receptor related protein 4 |
PubMed | Reports |
| 63 | Central core myopathy (Nov 30, 2023) Autosomal dominant |
Neuromuscular disorders |
RYR1 ryanodine receptor 1 |
PubMed | Reports |
| 64 | Cheilitis glandularis (Jul 20, 2024) Autosomal dominant |
Skin disorders |
CAST calpastatin |
PubMed | Reports |
| 65 | Child syndrome (Nov 30, 2023) X-linked recessive |
Skin disorders |
NSDHL NAD(P) dependent steroid dehydrogenase-like |
PubMed | Reports |
| 66 | Cholestanol storage disease (Mar 09, 2023) Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
CYP27A1 cytochrome P450 family 27 subfamily A member 1 |
PubMed | Reports |
| 67 | Chondrosarcoma (Nov 30, 2023) Somatic mutation |
Cancer disorders |
EXT1 exostosin glycosyltransferase 1 |
PubMed | Reports |
| 68 | Chorea-acanthocytosis (Sep 15, 2022) Autosomal recessive |
Neurodegenerative disorders |
VPS13A vacuolar protein sorting 13 homolog A |
PubMed | Reports |
| 69 | Choroid plexus papilloma (Jan 04, 2024) Autosomal dominant |
Cancer disorders |
TP53 tumor protein p53 |
PubMed | Reports |
| 70 | Chronic inflammatory demyelinating polyneuropathy (Nov 30, 2023) |
Neuromuscular disorders |
PMP22 peripheral myelin protein 22 |
PubMed | Reports |