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
141 H syndrome  (Dec 07, 2023)
Autosomal recessive
Skin disorders SLC29A3 solute carrier family 29 member 3
PubMed Reports
142 Haim-Munk syndrome  (Dec 07, 2023)
Autosomal recessive
Skin disorders CTSC cathepsin C
PubMed Reports
143 Hajdu-Cheney syndrome  (May 24, 2023)
Autosomal dominant
Bone disorders NOTCH2 notch receptor 2
PubMed Reports
144 Hb SS disease  (Nov 02, 2023)
Autosomal recessive
Blood disorders HBB hemoglobin subunit beta
PubMed Reports
145 Hemophilia B  (Sep 05, 2023)
X-linked dominant
Blood disorders F9 coagulation factor IX
PubMed Reports
146 Hereditary acrodermatitis enteropathica  (Feb 01, 2024)
Autosomal recessive
Metabolic disorders SLC39A4 solute carrier family 39 member 4
PubMed Reports
147 Hereditary antithrombin deficiency  (Jul 20, 2024)
Autosomal dominant, Autosomal recessive
Blood disorders SERPINC1 serpin family C member 1
PubMed Reports
148 Hereditary elliptocytosis  (Feb 20, 2024)
Autosomal dominant, Autosomal recessive
Blood disorders EPB41 erythrocyte membrane protein band 4.1
PubMed Reports
149 Hereditary fructosuria  (Dec 07, 2023)
Autosomal recessive
Metabolic disorders ALDOB aldolase, fructose-bisphosphate B
PubMed Reports
150 Hereditary hyperekplexia  (Mar 09, 2023)
Autosomal dominant, Autosomal recessive
Neurodevelopmental disorders GLRA1 glycine receptor alpha 1
PubMed Reports