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
211 Multiple congenital exostosis  (Feb 01, 2024)
Autosomal dominant
Bone disorders EXT1 exostosin glycosyltransferase 1
PubMed Reports
212 Multiple fibrofolliculomas  (Nov 30, 2023)
Autosomal dominant
Skin disorders FLCN folliculin
PubMed Reports
213 Multiple gastrointestinal atresias  (Feb 01, 2024)
Autosomal recessive
Gastrointestinal disorders TTC7A tetratricopeptide repeat domain 7A
PubMed Reports
214 Multiple mitochondrial dysfunctions syndrome 5  (Jul 20, 2024)
Autosomal recessive
Metabolic disorders ISCA1 iron-sulfur cluster assembly 1
PubMed Reports
215 Multiple sclerosis  (Sep 15, 2022)
Neurodegenerative disorders NR1H3 nuclear receptor subfamily 1 group H member 3
PubMed Reports
216 Muscle eye brain disease  (Feb 01, 2024)
Autosomal recessive
Neuromuscular disorders POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
PubMed Reports
217 Myalgic encephalomyelitis  (Sep 05, 2023)
Neuronal disorders TRPM3 transient receptor potential cation channel subfamily M member 3
PubMed Reports
218 Myasthenia gravis  (Sep 05, 2023)
Neuromuscular disorders CHAT choline O-acetyltransferase
PubMed Reports
219 MYH9-related disorder  (Feb 01, 2024)
Autosomal dominant
Blood disorders MYH9 myosin heavy chain 9
PubMed Reports
220 Myhre syndrome  (Feb 01, 2024)
Autosomal dominant
Bone disorders SMAD4 SMAD family member 4
PubMed Reports