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 |
| 191 | Early-onset generalized limb-onset dystonia Autosomal dominant |
Neuromuscular disorders |
TOR1A torsin family 1 member A |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 192 | EAST syndrome Autosomal recessive |
Neurodevelopmental disorders |
KCNJ10 potassium inwardly rectifying channel subfamily J member 10 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 193 | Eichsfeld type congenital muscular dystrophy Autosomal recessive |
Neuromuscular disorders |
SELENON selenoprotein N |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 194 | Emery-Dreifuss muscular dystrophy 1, X-linked X-linked recessive |
Neuromuscular disorders |
EMD emerin |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 195 | Encephalocraniocutaneous lipomatosis Somatic mosaicism |
Neuronal disorders |
FGFR1 fibroblast growth factor receptor 1 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| 196 | Epidermolysis bullosa pruriginosa Autosomal dominant, Autosomal recessive |
Skin disorders |
COL7A1 collagen type VII alpha 1 chain |
Reports Updated as of Jun 12, 2025 |
PubMed |
| 197 | Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive |
Skin disorders |
PLEC plectin |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 198 | Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive |
Skin disorders |
PLEC plectin |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 199 | Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive |
Skin disorders |
PLEC plectin |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 200 | Essential thrombocythemia Autosomal dominant, X-linked dominant |
Blood disorders |
MPL MPL proto-oncogene, thrombopoietin receptor |
Reports Updated as of Dec 07, 2023 |
PubMed |