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 |
| 91 | Chédiak-Higashi syndrome Autosomal recessive |
Immune disorders |
LYST lysosomal trafficking regulator |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 92 | Cheilitis glandularis Autosomal dominant |
Skin disorders |
CAST calpastatin |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 93 | Child syndrome X-linked recessive |
Skin disorders |
NSDHL NAD(P) dependent steroid dehydrogenase-like |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 94 | Cholestanol storage disease Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
CYP27A1 cytochrome P450 family 27 subfamily A member 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 95 | Chondrosarcoma Somatic mutation |
Cancer disorders |
EXT1 exostosin glycosyltransferase 1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 96 | Chorea-acanthocytosis Autosomal recessive |
Neurodegenerative disorders |
VPS13A vacuolar protein sorting 13 homolog A |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 97 | Choroid plexus papilloma Autosomal dominant |
Cancer disorders |
TP53 tumor protein p53 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 98 | Choroideremia X-linked recessive |
Eye disorders |
CHM CHM Rab escort protein |
Reports Updated as of Jun 12, 2025 |
PubMed |
| 99 | Chronic inflammatory demyelinating polyneuropathy |
Neuromuscular disorders |
PMP22 peripheral myelin protein 22 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 100 | CK syndrome X-linked recessive |
Neurodevelopmental disorders |
NSDHL NAD(P) dependent steroid dehydrogenase-like |
Reports Updated as of Nov 12, 2025 |
PubMed |