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
351 Tyrosinemia type 1  (Dec 29, 2023)
Autosomal recessive
Metabolic disorders FAH fumarylacetoacetate hydrolase
PubMed Reports
352 Ulcerative colitis  (Sep 05, 2023)
Gastrointestinal disorders NOD2 nucleotide binding oligomerization domain containing 2
PubMed Reports
353 Van der Woude syndrome 2  (Nov 02, 2023)
Autosomal dominant
Oral disorders GRHL3 grainyhead like transcription factor 3
PubMed Reports
354 Variegate porphyria  (Jan 04, 2024)
Autosomal dominant
Metabolic disorders PPOX protoporphyrinogen oxidase
PubMed Reports
355 Vasculitis  (Sep 05, 2023)
Immune disorders ADA2 adenosine deaminase 2
PubMed Reports
356 Vitamin K-dependent clotting factors, combined deficiency of, type 1  (Nov 30, 2023)
Autosomal recessive
Blood disorders GGCX gamma-glutamyl carboxylase
PubMed Reports
357 Von Hippel-Lindau syndrome  (Sep 05, 2023)
Autosomal dominant
Cancer disorders VHL von Hippel-Lindau tumor suppressor
PubMed Reports
358 von Willebrand disease  (Nov 30, 2023)
Autosomal dominant, Autosomal recessive
Blood disorders VWF von Willebrand factor
PubMed Reports
359 Waldenstrom macroglobulinemia  (Feb 20, 2024)
Cancer disorders MYD88 MYD88 innate immune signal transduction adaptor
PubMed Reports
360 Williams syndrome  (Sep 05, 2023)
Autosomal dominant
Neurodevelopmental disorders ELN elastin
PubMed Reports