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 |
| 181 | Leucine-induced hypoglycemia (Jul 20, 2024) Autosomal dominant |
Metabolic disorders |
ABCC8 ATP binding cassette subfamily C member 8 |
PubMed | Reports |
| 182 | Linear nevus sebaceus syndrome (Jan 04, 2024) Somatic mosaicism |
Skin disorders |
KRAS KRAS proto-oncogene, GTPase |
PubMed | Reports |
| 183 | Lipid proteinosis (Feb 01, 2024) Autosomal recessive |
Metabolic disorders |
ECM1 extracellular matrix protein 1 |
PubMed | Reports |
| 184 | Lipomatosis, multiple symmetric (Jan 04, 2024) Autosomal dominant, Autosomal recessive, MT inheritance |
Skin disorders |
MFN2 mitofusin 2 |
PubMed | Reports |
| 185 | Lowe syndrome (Sep 05, 2023) X-linked dominant |
Metabolic disorders |
OCRL OCRL inositol polyphosphate-5-phosphatase |
PubMed | Reports |
| 186 | Lysinuric protein intolerance (Feb 01, 2024) Autosomal recessive |
Metabolic disorders |
SLC7A7 solute carrier family 7 member 7 |
PubMed | Reports |
| 187 | Macular corneal dystrophy (Feb 01, 2024) Autosomal recessive |
Eye disorders |
CHST6 carbohydrate sulfotransferase 6 |
PubMed | Reports |
| 188 | Majeed syndrome (Feb 01, 2024) Autosomal recessive |
Bone disorders |
LPIN2 lipin 2 |
PubMed | Reports |
| 189 | Mantle cell lymphoma (Feb 01, 2024) |
Cancer disorders |
ATM ATM serine/threonine kinase |
PubMed | Reports |
| 190 | Map-dot-fingerprint corneal dystrophy (Dec 07, 2023) Autosomal dominant |
Eye disorders |
TGFBI transforming growth factor beta induced |
PubMed | Reports |