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 |
| 1 | 46,XY sex reversal 1 Autosomal dominant, Autosomal recessive, X-linked dominant, Y-linked |
Reproductive disorders |
SRY sex determining region Y SOX9 SRY-box transcription factor 9 DHX37 DEAH-box helicase 37 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 2 | Achalasia cardia Autosomal recessive |
Gastrointestinal disorders |
NOS1 nitric oxide synthase 1 VIP vasoactive intestinal peptide AAAS aladin WD repeat nucleoporin CRLF1 cytokine receptor like factor 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 3 | Achondrogenesis Autosomal dominant, Autosomal recessive |
Bone disorders |
SLC26A2 solute carrier family 26 member 2 TRIP11 thyroid hormone receptor interactor 11 COL2A1 collagen type II alpha 1 chain |
Reports Updated as of Nov 30, 2023 |
PubMed |
| 4 | Acrodysostosis Autosomal dominant |
Bone disorders |
PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha PDE4D phosphodiesterase 4D |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 5 | Acromesomelic dysplasia Autosomal recessive |
Bone disorders |
BMPR1B bone morphogenetic protein receptor type 1B GDF5 growth differentiation factor 5 NPR2 natriuretic peptide receptor 2 ANK2 ankyrin 2 PRKG2 protein kinase cGMP-dependent 2 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 6 | Acute intermittent porphyria Autosomal dominant |
Metabolic disorders |
HMBS hydroxymethylbilane synthase ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group) |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 7 | Acute lymphoid leukemia |
Cancer disorders |
FLT3 fms related receptor tyrosine kinase 3 ETV6 ETS variant transcription factor 6 PAX5 paired box 5 IKZF1 IKAROS family zinc finger 1 CDKN2A cyclin dependent kinase inhibitor 2A |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 8 | Acute megakaryoblastic leukemia |
Cancer disorders |
GATA1 GATA binding protein 1 TP53 tumor protein p53 JAK3 Janus kinase 3 JAK1 Janus kinase 1 SETD2 SET domain containing 2, histone lysine methyltransferase RAD21 RAD21 cohesin complex component CTCF CCCTC-binding factor SUZ12 SUZ12 polycomb repressive complex 2 subunit SRSF2 serine and arginine rich splicing factor 2 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 9 | Acute promyelocytic leukemia |
Blood disorders |
RARA retinoic acid receptor alpha NUMA1 nuclear mitotic apparatus protein 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| 10 | Adisons disease Autosomal recessive |
Endocrine disorders |
PTPN22 protein tyrosine phosphatase non-receptor type 22 HLA-B major histocompatibility complex, class I, B HLA-DRB1 major histocompatibility complex, class II, DR beta 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |