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
41	Carpenter syndrome Autosomal recessive	Bone disorders	RAB23 RAB23, member RAS oncogene family MEGF8 multiple EGF like domains 8	Reports Updated as of Feb 20, 2024	PubMed
42	Catecholaminergic polymorphic ventricular tachycardia 1 Autosomal dominant, Autosomal recessive	Cardiovascular disorders	RYR2 ryanodine receptor 2 CASQ2 calsequestrin 2 DSP desmoplakin TRDN triadin	Reports Updated as of Feb 01, 2025	PubMed
43	Celiac disease Autosomal recessive	Gastrointestinal disorders	CTLA4 cytotoxic T-lymphocyte associated protein 4 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1	Reports Updated as of Mar 09, 2023	PubMed
44	CFH-Related dense deposit disease Autosomal recessive	Nephrological disorders	CFHR5 complement factor H related 5 CFH complement factor H	Reports Updated as of Mar 09, 2023	PubMed
45	Charcot-Marie-Tooth disease Autosomal dominant, Autosomal recessive, X-linked recessive, X-linked dominant	Neuromuscular disorders	FGD4 FYVE, RhoGEF and PH domain containing 4 MED25 mediator complex subunit 25 FIG4 FIG4 phosphoinositide 5-phosphatase MFN2 mitofusin 2 SH3TC2 SH3 domain and tetratricopeptide repeats 2 HSPB8 heat shock protein family B (small) member 8 SBF2 SET binding factor 2 GDAP1 ganglioside induced differentiation associated protein 1 KIF1B kinesin family member 1B PRX periaxin TRPV4 transient receptor potential cation channel subfamily V member 4 NDRG1 N-myc downstream regulated 1 LITAF lipopolysaccharide induced TNF factor YARS1 tyrosyl-tRNA synthetase 1 MTMR2 myotubularin related protein 2 DNM2 dynamin 2 RAB7A RAB7A, member RAS oncogene family HSPB1 heat shock protein family B (small) member 1 KARS1 lysyl-tRNA synthetase 1 PMP22 peripheral myelin protein 22 IGHMBP2 immunoglobulin mu DNA binding protein 2 GARS1 glycyl-tRNA synthetase 1 PRPS1 phosphoribosyl pyrophosphate synthetase 1 GJB1 gap junction protein beta 1 NEFL neurofilament light chain MPZ myelin protein zero LMNA lamin A/C EGR2 early growth response 2 RETREG1 reticulophagy regulator 1 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 INF2 inverted formin 2 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 AIFM1 apoptosis inducing factor mitochondria associated 1 HK1 hexokinase 1 GNB4 G protein subunit beta 4 SBF1 SET binding factor 1 PDK3 pyruvate dehydrogenase kinase 3 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 TRIM2 tripartite motif containing 2 COX6A1 cytochrome c oxidase subunit 6A1 GAN gigaxonin ARHGEF10 Rho guanine nucleotide exchange factor 10 MARS1 methionyl-tRNA synthetase 1 NAGLU N-acetyl-alpha-glucosaminidase DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 SPG11 SPG11 vesicle trafficking associated, spatacsin SURF1 SURF1 cytochrome c oxidase assembly factor VCP valosin containing protein MORC2 MORC family CW-type zinc finger 2 NEFH neurofilament heavy chain BSCL2 BSCL2 lipid droplet biogenesis associated, seipin MME membrane metalloendopeptidase ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 NTRK1 neurotrophic receptor tyrosine kinase 1 PMP2 peripheral myelin protein 2 MPV17 mitochondrial inner membrane protein MPV17 HINT1 histidine triad nucleotide binding protein 1 WNK1 WNK lysine deficient protein kinase 1 SPTLC2 serine palmitoyltransferase long chain base subunit 2 DNMT1 DNA methyltransferase 1 SEPTIN9 septin 9 CADM3 cell adhesion molecule 3 HSPB3 heat shock protein family B (small) member 3 KIF5A kinesin family member 5A SLC5A7 solute carrier family 5 member 7 JAG1 jagged canonical Notch ligand 1 POLR3B RNA polymerase III subunit B FBLN5 fibulin 5 SLC12A6 solute carrier family 12 member 6 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 DHX9 DExH-box helicase 9	Reports Updated as of Mar 09, 2023	PubMed
46	Cholangiocarcinoma	Cancer disorders	CXCR1 C-X-C motif chemokine receptor 1 PTGS2 prostaglandin-endoperoxide synthase 2	Reports Updated as of Nov 30, 2023	PubMed
47	Chronic granulomatous disease Autosomal recessive, X-linked dominant	Immune disorders	CYBB cytochrome b-245 beta chain NCF4 neutrophil cytosolic factor 4 NCF2 neutrophil cytosolic factor 2	Reports Updated as of Mar 09, 2023	PubMed
48	Citrullinemia type I Autosomal recessive	Metabolic disorders	SLC25A13 solute carrier family 25 member 13 ASS1 argininosuccinate synthase 1	Reports Updated as of Feb 01, 2024	PubMed
49	Classic homocystinuria Autosomal recessive	Metabolic disorders	CBS cystathionine beta-synthase PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin	Reports Updated as of Nov 30, 2023	PubMed
50	CLOVES syndrome Somatic mosaicism	Skin disorders	PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha PIK3R1 phosphoinositide-3-kinase regulatory subunit 1	Reports Updated as of Nov 30, 2023	PubMed

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