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 |
| 251 | LAMA2-related muscular dystrophy Autosomal recessive |
Neuromuscular disorders |
LAMA2 laminin subunit alpha 2 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| 252 | Langer mesomelic dysplasia syndrome Autosomal recessive |
Bone disorders |
SHOX SHOX homeobox |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 253 | Laron-type isolated somatotropin defect Autosomal recessive |
Endocrine disorders |
GHR growth hormone receptor |
Reports Updated as of Sep 08, 2025 |
PubMed |
| 254 | Laryngo-onycho-cutaneous syndrome Autosomal recessive |
Skin disorders |
LAMA3 laminin subunit alpha 3 |
Reports Updated as of Jun 12, 2025 |
PubMed |
| 255 | Lateral meningocele syndrome Autosomal dominant |
Neurodevelopmental disorders |
NOTCH3 notch receptor 3 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 256 | Lathosterolosis Autosomal recessive |
Metabolic disorders |
SC5D sterol-C5-desaturase |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 257 | Laurence-Moon syndrome Autosomal recessive |
Eye disorders |
PNPLA6 patatin like phospholipase domain containing 6 |
Reports Updated as of May 24, 2023 |
PubMed |
| 258 | LCAT deficiency Autosomal recessive |
Metabolic disorders |
LCAT lecithin-cholesterol acyltransferase |
Reports Updated as of Dec 07, 2023 |
PubMed |
| 259 | Leprechaunism syndrome Autosomal recessive |
Endocrine disorders |
INSR insulin receptor |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 260 | Lesch-Nyhan syndrome X-linked dominant |
Metabolic disorders |
HPRT1 hypoxanthine phosphoribosyltransferase 1 |
Reports Updated as of Feb 20, 2024 |
PubMed |