GenTIGS

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
151	Lethal multiple pterygium syndrome Autosomal recessive	Multisystemic disorders	CHRND cholinergic receptor nicotinic delta subunit CHRNA1 cholinergic receptor nicotinic alpha 1 subunit CHRNG cholinergic receptor nicotinic gamma subunit	Reports Updated as of Feb 01, 2025	PubMed
152	Li-Fraumeni syndrome Autosomal dominant	Cancer disorders	CHEK2 checkpoint kinase 2 TP53 tumor protein p53	Reports Updated as of Jul 20, 2024	PubMed
153	Limb-girdle muscular dystrophy Autosomal dominant, Autosomal recessive	Neuromuscular disorders	DYSF dysferlin ANO5 anoctamin 5 CAPN3 calpain 3 TTN titin SGCB sarcoglycan beta SGCD sarcoglycan delta MYOT myotilin POMT1 protein O-mannosyltransferase 1 SGCG sarcoglycan gamma POMK protein O-mannose kinase TRAPPC11 trafficking protein particle complex subunit 11	Reports Updated as of May 24, 2023	PubMed
154	Long QT syndrome Autosomal dominant	Cardiovascular disorders	SCN4B sodium voltage-gated channel beta subunit 4 KCNQ1 potassium voltage-gated channel subfamily Q member 1 AKAP9 A-kinase anchoring protein 9 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 CAV3 caveolin 3 SNTA1 syntrophin alpha 1 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 SCN5A sodium voltage-gated channel alpha subunit 5 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 KCNH2 potassium voltage-gated channel subfamily H member 2 ANK2 ankyrin 2 CALM2 calmodulin 2 CACNA1C calcium voltage-gated channel subunit alpha1 C KCNJ2 potassium inwardly rectifying channel subfamily J member 2 RYR2 ryanodine receptor 2 TRPM4 transient receptor potential cation channel subfamily M member 4 CALM1 calmodulin 1 PKP2 plakophilin 2 CALM3 calmodulin 3 MYPN myopalladin RNF207 ring finger protein 207 CACNA1S calcium voltage-gated channel subunit alpha1 S MYH6 myosin heavy chain 6 MYBPC3 myosin binding protein C3 DSG2 desmoglein 2 CTNNA3 catenin alpha 3	Reports Updated as of Feb 20, 2024	PubMed
155	Lynch syndrome Autosomal dominant	Cancer disorders	MSH2 mutS homolog 2 MSH6 mutS homolog 6 PMS2 PMS1 homolog 2, mismatch repair system component EPCAM epithelial cell adhesion molecule MLH1 mutL homolog 1 MLH3 mutL homolog 3 RB1 RB transcriptional corepressor 1 PALB2 partner and localizer of BRCA2 ATM ATM serine/threonine kinase CHEK2 checkpoint kinase 2	Reports Updated as of Sep 05, 2023	PubMed
156	Maffucci syndrome	Bone disorders	COL2A1 collagen type II alpha 1 chain HIF1A hypoxia inducible factor 1 subunit alpha	Reports Updated as of Feb 01, 2024	PubMed
157	Maple syrup urine disease Autosomal recessive	Metabolic disorders	BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha BCKDHB branched chain keto acid dehydrogenase E1 subunit beta DBT dihydrolipoamide branched chain transacylase E2	Reports Updated as of Mar 09, 2023	PubMed
158	Marfan syndrome Autosomal dominant	Cardiovascular disorders	FBN1 fibrillin 1 COL1A2 collagen type I alpha 2 chain LTBP2 latent transforming growth factor beta binding protein 2 TGFBR2 transforming growth factor beta receptor 2 COL5A2 collagen type V alpha 2 chain NOTCH1 notch receptor 1 TGFB2 transforming growth factor beta 2	Reports Updated as of Feb 20, 2024	PubMed
159	Megalencephalic leukoencephalopathy with subcortical cysts Autosomal dominant, Autosomal recessive	Neurodegenerative disorders	MLC1 modulator of VRAC current 1 HEPACAM hepatic and glial cell adhesion molecule AQP4 aquaporin 4 GPRC5B G protein-coupled receptor class C group 5 member B	Reports Updated as of Feb 20, 2024	PubMed
160	Meniere disease Autosomal dominant	Ear disorders	FAM136A family with sequence similarity 136 member A DTNA dystrobrevin alpha MYO7A myosin VIIA CDH23 cadherin related 23 SHROOM2 shroom family member 2 TECTA tectorin alpha	Reports Updated as of Sep 05, 2023	PubMed

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