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
21 Aicardi-Goutieres syndrome 4  (Jul 20, 2024)
Autosomal recessive
Multisystemic disorders RNASEH2A ribonuclease H2 subunit A
PubMed Reports
22 Aicardi-Goutieres syndrome 6  (Jul 20, 2024)
Autosomal recessive
Multisystemic disorders ADAR adenosine deaminase RNA specific
PubMed Reports
23 Alkaptonuria  (Sep 15, 2022)
Autosomal recessive
Metabolic disorders HGD homogentisate 1,2-dioxygenase
PubMed Reports
24 Alopecia universalis congenita  (Nov 30, 2023)
Autosomal recessive
Skin disorders HR HR lysine demethylase and nuclear receptor corepressor
PubMed Reports
25 Alpha-1-antitrypsin deficiency  (Nov 02, 2023)
Autosomal recessive
Metabolic disorders SERPINA1 serpin family A member 1
PubMed Reports
26 Alpha-2-plasmin inhibitor deficiency  (Nov 30, 2023)
Autosomal recessive
Blood disorders SERPINF2 serpin family F member 2
PubMed Reports
27 Alstrom syndrome  (Nov 30, 2023)
Autosomal recessive
Multisystemic disorders ALMS1 ALMS1 centrosome and basal body associated protein
PubMed Reports
28 Alveolar soft part sarcoma  (Nov 30, 2023)
Cancer disorders ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing
PubMed Reports
29 Amelocerebrohypohidrotic syndrome  (Feb 01, 2024)
Autosomal recessive
Neurodegenerative disorders ROGDI rogdi atypical leucine zipper
PubMed Reports
30 Amelogenesis imperfecta type 1G  (Dec 29, 2023)
Autosomal recessive
Oral disorders FAM20A FAM20A golgi associated secretory pathway pseudokinase
PubMed Reports