GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Monogenic disorders list    

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