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
201 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)  (Jul 20, 2024)
Autosomal recessive
Metabolic disorders MPV17 mitochondrial inner membrane protein MPV17
PubMed Reports
202 Monomelic amyotrophy  (Feb 01, 2024)
Neuromuscular disorders SLIT1 slit guidance ligand 1
PubMed Reports
203 Morning glory disc anomaly  (Jan 04, 2024)
Autosomal dominant
Eye disorders PAX6 paired box 6
PubMed Reports
204 Mosaic variegated aneuploidy syndrome 2  (Feb 01, 2024)
Autosomal recessive
Multisystemic disorders CEP57 centrosomal protein 57
PubMed Reports
205 Mucolipidosis type II  (May 24, 2023)
Autosomal recessive
Metabolic disorders/Lysosomal storage disorders GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
PubMed Reports
206 Mucopolysaccharidosis type 2  (May 24, 2023)
X-linked dominant
Metabolic disorders/Lysosomal storage disorders IDS iduronate 2-sulfatase
PubMed Reports
207 Mucopolysaccharidosis, MPS-IV-A  (Sep 05, 2023)
Autosomal recessive
Metabolic disorders/Lysosomal storage disorders GALNS galactosamine (N-acetyl)-6-sulfatase
PubMed Reports
208 Mucosa-associated lymphoma  (Feb 01, 2024)
Cancer disorders BCL10 BCL10 immune signaling adaptor
PubMed Reports
209 Muenke syndrome  (Feb 01, 2024)
Autosomal dominant
Bone disorders FGFR3 fibroblast growth factor receptor 3
PubMed Reports
210 Mulibrey nanism syndrome  (Feb 01, 2024)
Autosomal recessive
Bone disorders TRIM37 tripartite motif containing 37
PubMed Reports