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
331 Spinocerebellar ataxia type 6  (Apr 17, 2024)
Autosomal dominant
Neurodegenerative disorders CACNA1A calcium voltage-gated channel subunit alpha1 A
PubMed Reports
332 Spinocerebellar ataxia type 7  (Apr 17, 2024)
Autosomal dominant
Neurodegenerative disorders ATXN7 ataxin 7
PubMed Reports
333 Spondyloepiphyseal dysplasia with congenital joint dislocations  (Mar 09, 2023)
Autosomal recessive
Bone disorders CHST3 carbohydrate sulfotransferase 3
PubMed Reports
334 Steatocystoma multiplex  (Dec 29, 2023)
Autosomal dominant
Skin disorders KRT17 keratin 17
PubMed Reports
335 Steinert myotonic dystrophy syndrome  (Nov 30, 2023)
Autosomal dominant
Neuromuscular disorders DMPK DM1 protein kinase
PubMed Reports
336 STING-associated vasculopathy with onset in infancy  (Dec 29, 2023)
Autosomal dominant
Immune disorders STING1 stimulator of interferon response cGAMP interactor 1
PubMed Reports
337 Sturge-Weber syndrome  (Sep 05, 2023)
Somatic mosaicism
Neuronal disorders GNAQ G protein subunit alpha q
PubMed Reports
338 Succinate-semialdehyde dehydrogenase deficiency  (Dec 29, 2023)
Autosomal recessive
Metabolic disorders ALDH5A1 aldehyde dehydrogenase 5 family member A1
PubMed Reports
339 Succinyl-CoA acetoacetate transferase deficiency  (Dec 29, 2023)
Autosomal recessive
Metabolic disorders OXCT1 3-oxoacid CoA-transferase 1
PubMed Reports
340 Supravalvar aortic stenosis  (Dec 29, 2023)
Autosomal dominant
Cardiovascular disorders ELN elastin
PubMed Reports