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 |