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 |
| 221 | Linear nevus sebaceus syndrome Somatic mosaicism |
Skin disorders |
KRAS KRAS proto-oncogene, GTPase |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 222 | Lipid proteinosis Autosomal recessive |
Metabolic disorders |
ECM1 extracellular matrix protein 1 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 223 | Lipomatosis, multiple symmetric Autosomal dominant, Autosomal recessive, MT inheritance |
Skin disorders |
MFN2 mitofusin 2 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 224 | Lowe syndrome X-linked dominant |
Metabolic disorders |
OCRL OCRL inositol polyphosphate-5-phosphatase |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 225 | Lysinuric protein intolerance Autosomal recessive |
Metabolic disorders |
SLC7A7 solute carrier family 7 member 7 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 226 | Macular corneal dystrophy Autosomal recessive |
Eye disorders |
CHST6 carbohydrate sulfotransferase 6 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 227 | Majeed syndrome Autosomal recessive |
Bone disorders |
LPIN2 lipin 2 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 228 | Mantle cell lymphoma |
Cancer disorders |
ATM ATM serine/threonine kinase |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 229 | Map-dot-fingerprint corneal dystrophy Autosomal dominant |
Eye disorders |
TGFBI transforming growth factor beta induced |
Reports Updated as of Dec 07, 2023 |
PubMed |
| 230 | Marinesco-Sjögren syndrome Autosomal recessive |
Neurodegenerative disorders |
SIL1 SIL1 nucleotide exchange factor |
Reports Updated as of Feb 01, 2025 |
PubMed |