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
Modes of inheritance
Category Gene symbol Indian
context
 Links
231 Maturity onset diabetes mellitus in young (MODY) 
Autosomal dominant
Metabolic disorders HNF4A hepatocyte nuclear factor 4 alpha
Reports
Updated as of Jan 04, 2024
PubMed
232 Menkes disease 
X-linked dominant
Metabolic disorders ATP7A ATPase copper transporting alpha
Reports
Updated as of Sep 15, 2022
PubMed
233 Merosin deficient congenital muscular dystrophy 
Autosomal recessive
Neuromuscular disorders LAMA2 laminin subunit alpha 2
Reports
Updated as of Feb 04, 2025
PubMed
234 Mesoaxial synostotic syndactyly with phalangeal reduction 
Autosomal recessive
Bone disorders BHLHA9 basic helix-loop-helix family member a9
Reports
Updated as of Feb 01, 2024
PubMed
235 Mesothelioma, malignan 
Somatic mutation
Respiratory disorders WT1 WT1 transcription factor
Reports
Updated as of Jan 04, 2024
PubMed
236 Metachondromatosis 
Autosomal dominant
Bone disorders PTPN11 protein tyrosine phosphatase non-receptor type 11
Reports
Updated as of Feb 01, 2024
PubMed
237 Metaphyseal chondrodysplasia, Jansen type 
Autosomal dominant
Immune disorders PTH1R parathyroid hormone 1 receptor
Reports
Updated as of Sep 15, 2022
PubMed
238 Metaphyseal chondrodysplasia, McKusick type 
Autosomal recessive
Immune disorders RMRP RNA component of mitochondrial RNA processing endoribonuclease
Reports
Updated as of Sep 15, 2022
PubMed
239 Metatropic dysplasia 
Autosomal dominant
Bone disorders TRPV4 transient receptor potential cation channel subfamily V member 4
Reports
Updated as of Feb 01, 2024
PubMed
240 Mevalonic aciduria 
Autosomal recessive
Metabolic disorders MVK mevalonate kinase
Reports
Updated as of Feb 01, 2024
PubMed