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 Modes of inheritance |
Category | Gene symbol | Indian context |
Links |
| 271 | Warburg micro syndrome Autosomal recessive |
Neurodevelopmental disorders |
RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 RAB18 RAB18, member RAS oncogene family RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 TBC1D20 TBC1 domain family member 20 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 272 | Wiskott-Aldrich syndrome X-linked dominant |
Immune disorders |
WAS WASP actin nucleation promoting factor WIPF1 WAS/WASL interacting protein family member 1 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 273 | Wolfram syndrome Autosomal recessive |
Neurodegenerative disorders |
CISD2 CDGSH iron sulfur domain 2 WFS1 wolframin ER transmembrane glycoprotein |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 274 | X-linked sideroblastic anemia 1 X-linked recessive |
Metabolic disorders |
ALAS2 5'-aminolevulinate synthase 2 SLC25A38 solute carrier family 25 member 38 |
Reports Updated as of Feb 04, 2025 |
PubMed |
| 275 | Xanthinuria type II Autosomal recessive |
Metabolic disorders |
MOCOS molybdenum cofactor sulfurase XDH xanthine dehydrogenase |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 276 | xeroderma pigmentosum Autosomal recessive |
Skin disorders |
XPC XPC complex subunit, DNA damage recognition and repair factor XPA XPA, DNA damage recognition and repair factor POLH DNA polymerase eta DDB2 damage specific DNA binding protein 2 ERCC5 ERCC excision repair 5, endonuclease ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit |
Reports Updated as of Nov 02, 2023 |
PubMed |
| 277 | Yunis-Varon syndrome Autosomal recessive |
Bone disorders |
FIG4 FIG4 phosphoinositide 5-phosphatase VAC14 VAC14 component of PIKFYVE complex |
Reports Updated as of Feb 04, 2025 |
PubMed |
| 278 | Zellweger spectrum disorders |
Multisystemic disorders |
PEX1 peroxisomal biogenesis factor 1 PEX6 peroxisomal biogenesis factor 6 PEX19 peroxisomal biogenesis factor 19 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 279 | Zimmermann-Laband syndrome Autosomal dominant |
Multisystemic disorders |
KCNH1 potassium voltage-gated channel subfamily H member 1 ATP6V1B2 ATPase H+ transporting V1 subunit B2 KCNN3 potassium calcium-activated channel subfamily N member 3 |
Reports Updated as of Nov 12, 2025 |
PubMed |