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
141	Kleefstra syndrome Autosomal dominant	Neurodevelopmental disorders	EHMT1 euchromatic histone lysine methyltransferase 1 KMT2C lysine methyltransferase 2C PAEP progestagen associated endometrial protein	Reports Updated as of May 24, 2023	PubMed
142	Klippel-Feil syndrome Autosomal dominant	Bone disorders	GDF6 growth differentiation factor 6 GDF3 growth differentiation factor 3 MEOX1 mesenchyme homeobox 1 RIPPLY2 ripply transcriptional repressor 2 MYO18B myosin XVIIIB	Reports Updated as of Feb 01, 2025	PubMed
143	Knobloch syndrome Autosomal recessive	Eye disorders	COL18A1 collagen type XVIII alpha 1 chain PAK2 p21 (RAC1) activated kinase 2	Reports Updated as of Feb 01, 2024	PubMed
144	Lafora disease Autosomal recessive	Neurodegenerative disorders	EPM2A EPM2A glucan phosphatase, laforin NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1	Reports Updated as of Feb 01, 2024	PubMed
145	Lamellar ichthyosis Autosomal recessive	Skin disorders	TGM1 transglutaminase 1 ABCA12 ATP binding cassette subfamily A member 12 SLC27A4 solute carrier family 27 member 4 NIPAL4 NIPA like domain containing 4 CYP4F22 cytochrome P450 family 4 subfamily F member 22 ALOX12B arachidonate 12-lipoxygenase, 12R type CERS3 ceramide synthase 3 PNPLA1 patatin like phospholipase domain containing 1 ALOXE3 arachidonate lipoxygenase 3	Reports Updated as of Mar 09, 2023	PubMed
146	Leber congenital amaurosis Autosomal recessive	Eye disorders	LCA5 lebercilin LCA5 CEP290 centrosomal protein 290 SPATA7 spermatogenesis associated 7 RDH12 retinol dehydrogenase 12 RPGRIP1 RPGR interacting protein 1 AIPL1 aryl hydrocarbon receptor interacting protein like 1 CRB1 crumbs cell polarity complex component 1 CRX cone-rod homeobox GUCY2D guanylate cyclase 2D, retinal RPE65 retinoid isomerohydrolase RPE65 RD3 RD3 regulator of GUCY2D IMPDH1 inosine monophosphate dehydrogenase 1 TULP1 TUB like protein 1 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 GDF6 growth differentiation factor 6 RIMS1 regulating synaptic membrane exocytosis 1 NPHP1 nephrocystin 1 LRAT lecithin retinol acyltransferase PDE6A phosphodiesterase 6A AHI1 Abelson helper integration site 1 RP2 RP2 activator of ARL3 GTPase IQCB1 IQ motif containing B1 TUBB4B tubulin beta 4B class IVb USP45 ubiquitin specific peptidase 45 PROM1 prominin 1 INPP5E inositol polyphosphate-5-phosphatase E CFAP410 cilia and flagella associated protein 410 ALMS1 ALMS1 centrosome and basal body associated protein RPGRIP1L RPGRIP1 like	Reports Updated as of May 24, 2023	PubMed
147	Leber optic atrophy MT inheritance	Metabolic disorders	MT-CO3 mitochondrially encoded cytochrome c oxidase III MT-ND6 mitochondrially encoded NADH dehydrogenase 6 MT-ND5 mitochondrially encoded NADH dehydrogenase 5 MT-ND4L mitochondrially encoded NADH 4L dehydrogenase MT-ND4 mitochondrially encoded NADH dehydrogenase 4 MT-ND1 mitochondrially encoded NADH dehydrogenase 1 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2	Reports Updated as of Jul 20, 2024	PubMed
148	Left ventricular noncompaction cardiomyopathy Autosomal dominant, Autosomal recessive, X-linked recessive, MT inheritance	Cardiovascular disorders	MYH7 myosin heavy chain 7 TTN titin RYR2 ryanodine receptor 2 DSP desmoplakin MYBPC3 myosin binding protein C3 SCN5A sodium voltage-gated channel alpha subunit 5 LAMA4 laminin subunit alpha 4 DMD dystrophin LDB3 LIM domain binding 3 ACTC1 actin alpha cardiac muscle 1 DTNA dystrobrevin alpha TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase TPM1 tropomyosin 1 DSG2 desmoglein 2 TBX5 T-box transcription factor 5 PKP2 plakophilin 2 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 PRDM16 PR/SET domain 16 RAF1 Raf-1 proto-oncogene, serine/threonine kinase	Reports Updated as of Feb 04, 2025	PubMed
149	Leigh syndrome Autosomal recessive, X-linked dominant, MT inheritance	Neurodegenerative disorders	MT-ATP6 mitochondrially encoded ATP synthase 6 MT-ND6 mitochondrially encoded NADH dehydrogenase 6 MT-ND5 mitochondrially encoded NADH dehydrogenase 5 MT-ND2 mitochondrially encoded NADH dehydrogenase 2 MT-ND1 mitochondrially encoded NADH dehydrogenase 1 MT-ND3 mitochondrially encoded NADH dehydrogenase 3 ECHS1 enoyl-CoA hydratase, short chain 1 LRPPRC leucine rich pentatricopeptide repeat containing SURF1 SURF1 cytochrome c oxidase assembly factor NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 SDHA succinate dehydrogenase complex flavoprotein subunit A DLD dihydrolipoamide dehydrogenase NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 COX15 cytochrome c oxidase assembly homolog COX15 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 MRPS34 mitochondrial ribosomal protein S34 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 SCO1 synthesis of cytochrome C oxidase 1 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 MT-ND4 mitochondrially encoded NADH dehydrogenase 4 MT-CO1 mitochondrially encoded cytochrome c oxidase I MT-CO2 mitochondrially encoded cytochrome c oxidase II FASTKD2 FAST kinase domains 2 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 FOXRED1 FAD dependent oxidoreductase domain containing 1 MRPL39 mitochondrial ribosomal protein L39 FBXL4 F-box and leucine rich repeat protein 4 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial VPS13D vacuolar protein sorting 13 homolog D	Reports Updated as of May 24, 2023	PubMed
150	Lennox-Gastaut syndrome Autosomal dominant	Neurodevelopmental disorders	GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 CHD2 chromodomain helicase DNA binding protein 2 DNM1 dynamin 1	Reports Updated as of May 24, 2023	PubMed

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