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 |
| 261 | Toxic epidermal necrolysis |
Skin disorders |
HLA-B major histocompatibility complex, class I, B IKZF1 IKAROS family zinc finger 1 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 262 | Trichothiodystrophy Autosomal recessive |
Skin disorders |
MPLKIP M-phase specific PLK1 interacting protein GTF2H5 general transcription factor IIH subunit 5 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit RNF113A ring finger protein 113A GTF2E2 general transcription factor IIE subunit 2 TARS1 threonyl-tRNA synthetase 1 AARS1 alanyl-tRNA synthetase 1 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 263 | Tuberous Sclerosis Autosomal dominant |
Tumor/Cancer |
TSC1 TSC complex subunit 1 TSC2 TSC complex subunit 2 SERPINC1 serpin family C member 1 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 264 | Tyrosinemia type II Autosomal recessive |
Metabolic disorders |
TAT tyrosine aminotransferase HPD 4-hydroxyphenylpyruvate dioxygenase |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 265 | Usher syndrome Autosomal recessive |
Eye disorders / Ear disorders |
USH2A usherin WHRN whirlin USH1G USH1 protein network component sans CLRN1 clarin 1 CDH23 cadherin related 23 PCDH15 protocadherin related 15 USH1C USH1 protein network component harmonin ADGRV1 adhesion G protein-coupled receptor V1 MYO7A myosin VIIA HARS1 histidyl-tRNA synthetase 1 PDZD7 PDZ domain containing 7 CIB2 calcium and integrin binding family member 2 PROM1 prominin 1 ESPN espin ARSG arylsulfatase G SLC9B1 solute carrier family 9 member B1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 266 | Uveal melanoma Autosomal dominant |
Cancer disorders |
GNAQ G protein subunit alpha q BAP1 BRCA1 associated protein 1 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 267 | Van der Woude syndrome 1 Autosomal dominant |
Oral disorders |
IRF6 interferon regulatory factor 6 GRHL3 grainyhead like transcription factor 3 |
Reports Updated as of Nov 02, 2023 |
PubMed |
| 268 | Very long chain acyl-CoA dehydrogenase deficiency Autosomal recessive |
Metabolic disorders |
ACADVL acyl-CoA dehydrogenase very long chain ACADL acyl-CoA dehydrogenase long chain |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 269 | Vitiligo |
Skin disorders |
PTPN2 protein tyrosine phosphatase non-receptor type 2 NLRP1 NLR family pyrin domain containing 1 MTHFR methylenetetrahydrofolate reductase |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 270 | Waardenburg syndrome Autosomal dominant |
Eye disorders / Ear disorders |
PAX3 paired box 3 SOX10 SRY-box transcription factor 10 MITF melanocyte inducing transcription factor EDNRB endothelin receptor type B EDN3 endothelin 3 KITLG KIT ligand |
Reports Updated as of Sep 05, 2023 |
PubMed |