List of monogenic disorders and their associated genes(Heterogeneity and
Homogeneity)
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in any one across of 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 |
| 131 | Chorea-acanthocytosis Autosomal recessive |
Neurodegenerative disorders |
VPS13A vacuolar protein sorting 13 homolog A |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 132 | Choroid plexus papilloma Autosomal dominant |
Cancer disorders |
TP53 tumor protein p53 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 133 | Choroideremia X-linked recessive |
Eye disorders |
CHM CHM Rab escort protein |
Reports Updated as of Jun 12, 2025 |
PubMed |
| 134 | Chronic inflammatory demyelinating polyneuropathy |
Neuromuscular disorders |
PMP22 peripheral myelin protein 22 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 135 | CK syndrome X-linked recessive |
Neurodevelopmental disorders |
NSDHL NAD(P) dependent steroid dehydrogenase-like |
Reports Updated as of Nov 12, 2025 |
PubMed |
| 136 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Autosomal recessive |
Endocrine disorders |
CYP21A2 cytochrome P450 family 21 subfamily A member 2 |
Reports Updated as of Sep 08, 2025 |
PubMed |
| 137 | Coffin-Lowry syndrome X-linked dominant |
Multisystemic disorders |
RPS6KA3 ribosomal protein S6 kinase A3 |
Reports Updated as of Jan 05, 2026 |
PubMed |
| 138 | Cold-induced sweating syndrome 1 Autosomal recessive |
Neuromuscular disorders |
CRLF1 cytokine receptor like factor 1 |
Reports Updated as of Jun 12, 2025 |
PubMed |
| 139 | Colorectal cancer, hereditary nonpolyposis, type 2 Autosomal dominant |
Cancer disorders |
MLH1 mutL homolog 1 |
Reports Updated as of Aug 17, 2026 |
PubMed |
| 140 | Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive |
Immune disorders |
DOCK8 dedicator of cytokinesis 8 |
Reports Updated as of Feb 01, 2025 |
PubMed |