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 |