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 |
| 171 | Krabbe disease (May 24, 2023) Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
PSAP prosaposin |
PubMed | Reports |
| 172 | Lacrimoauriculodentodigital syndrome (Feb 01, 2024) Autosomal dominant |
Oral disorders |
FGF10 fibroblast growth factor 10 |
PubMed | Reports |
| 173 | Langer mesomelic dysplasia syndrome (Feb 01, 2024) Autosomal recessive |
Bone disorders |
SHOX SHOX homeobox |
PubMed | Reports |
| 174 | Lateral meningocele syndrome (Feb 01, 2024) Autosomal dominant |
Neurodevelopmental disorders |
NOTCH3 notch receptor 3 |
PubMed | Reports |
| 175 | Lathosterolosis (Feb 01, 2024) Autosomal recessive |
Metabolic disorders |
SC5D sterol-C5-desaturase |
PubMed | Reports |
| 176 | Laurence-Moon syndrome (May 24, 2023) Autosomal recessive |
Eye disorders |
PNPLA6 patatin like phospholipase domain containing 6 |
PubMed | Reports |
| 177 | LCAT deficiency (Dec 07, 2023) Autosomal recessive |
Metabolic disorders |
LCAT lecithin-cholesterol acyltransferase |
PubMed | Reports |
| 178 | Leprechaunism syndrome (Feb 01, 2024) Autosomal recessive |
Endocrine disorders |
INSR insulin receptor |
PubMed | Reports |
| 179 | Lesch-Nyhan syndrome (Feb 20, 2024) X-linked dominant |
Metabolic disorders |
HPRT1 hypoxanthine phosphoribosyltransferase 1 |
PubMed | Reports |
| 180 | Lethal osteosclerotic bone dysplasia (Sep 15, 2022) Autosomal recessive |
Bone disorders |
FAM20C FAM20C golgi associated secretory pathway kinase |
PubMed | Reports |