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
51	Cockayne syndrome Autosomal recessive	Neurodegenerative disorders	ERCC6 ERCC excision repair 6, chromatin remodeling factor ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ERCC4 ERCC excision repair 4, endonuclease catalytic subunit	Reports Updated as of Mar 09, 2023	PubMed
52	Common variable immunodeficiency Autosomal dominant, Autosomal recessive	Immune disorders	TTC7A tetratricopeptide repeat domain 7A NFKB1 nuclear factor kappa B subunit 1 RAG2 recombination activating 2	Reports Updated as of Mar 09, 2023	PubMed
53	Cone rod dystrophy Autosomal dominant, Autosomal recessive, X-linked dominant	Eye disorders	GUCY2D guanylate cyclase 2D, retinal ABCA4 ATP binding cassette subfamily A member 4	Reports Updated as of Mar 09, 2023	PubMed
54	Congenital afibrinogenemia Autosomal recessive	Blood disorders	FGG fibrinogen gamma chain FGB fibrinogen beta chain FGA fibrinogen alpha chain	Reports Updated as of Nov 30, 2023	PubMed
55	Congenital contractural arachnodactyly Autosomal dominant	Bone disorders	FBN2 fibrillin 2 FBN1 fibrillin 1	Reports Updated as of Mar 09, 2023	PubMed
56	Congenital diaphragmatic hernia Autosomal recessive	Respiratory disorders	PAX3 paired box 3 FREM1 FRAS1 related extracellular matrix 1 FBN1 fibrillin 1 FREM2 FRAS1 related extracellular matrix 2 LZTR1 leucine zipper like post translational regulator 1 PLS3 plastin 3	Reports Updated as of Feb 20, 2024	PubMed
57	Congenital disorder of glycosylation Autosomal recessive	Metabolic disorders	ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit PGM1 phosphoglucomutase 1 ALG3 ALG3 alpha-1,3- mannosyltransferase TUSC3 tumor suppressor candidate 3 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ALG8 ALG8 alpha-1,3-glucosyltransferase ALG9 ALG9 alpha-1,2-mannosyltransferase COG6 component of oligomeric golgi complex 6 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase COG7 component of oligomeric golgi complex 7 COG8 component of oligomeric golgi complex 8 MPDU1 mannose-P-dolichol utilization defect 1 COG2 component of oligomeric golgi complex 2 DHDDS dehydrodolichyl diphosphate synthase subunit FUT8 fucosyltransferase 8 RPN2 ribophorin II FCSK fucose kinase MAGT1 magnesium transporter 1 SRD5A3 steroid 5 alpha-reductase 3 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase ATP6AP2 ATPase H+ transporting accessory protein 2 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 SSR3 signal sequence receptor subunit 3 SLC37A4 solute carrier family 37 member 4 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A SLC35A2 solute carrier family 35 member A2 CAMLG calcium modulating ligand COG3 component of oligomeric golgi complex 3 CACNA1D calcium voltage-gated channel subunit alpha1 D	Reports Updated as of Dec 29, 2023	PubMed
58	Congenital myopathy	Neuromuscular disorders	TPM3 tropomyosin 3 TPM2 tropomyosin 2 ACTA1 actin alpha 1, skeletal muscle MEGF10 multiple EGF like domains 10 MYH7 myosin heavy chain 7 RYR1 ryanodine receptor 1 HACD1 3-hydroxyacyl-CoA dehydratase 1 SELENON selenoprotein N CCDC78 coiled-coil domain containing 78 MYL1 myosin light chain 1 CACNA1S calcium voltage-gated channel subunit alpha1 S MYL2 myosin light chain 2 TNNC2 troponin C2, fast skeletal type DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 SCN4A sodium voltage-gated channel alpha subunit 4 ASCC3 activating signal cointegrator 1 complex subunit 3 MYPN myopalladin	Reports Updated as of Mar 09, 2023	PubMed
59	Congenital myopathy with fiber type disproportion Autosomal dominant, Autosomal recessive, X-linked dominant	Neuromuscular disorders	SELENON selenoprotein N TPM3 tropomyosin 3 ACTA1 actin alpha 1, skeletal muscle MYH7 myosin heavy chain 7 RYR1 ryanodine receptor 1 MYL2 myosin light chain 2	Reports Updated as of Feb 01, 2025	PubMed
60	Congenital sensory neuropathy with selective loss of small myelinated fibers Autosomal recessive	Neuromuscular disorders	NGF nerve growth factor SCN11A sodium voltage-gated channel alpha subunit 11	Reports Updated as of Jun 12, 2025	PubMed

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