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
21	Ateleiotic dwarfism Autosomal recessive	Endocrine disorders	GH1 growth hormone 1 BRCA2 BRCA2 DNA repair associated XRCC4 X-ray repair cross complementing 4 CRIPT CXXC repeat containing interactor of PDZ3 domain	Reports Updated as of Sep 08, 2025	PubMed
22	Atrophia bulborum hereditaria X-linked recessive	Eye disorders / Ear disorders	NDP norrin cystine knot growth factor NDP TSPAN12 tetraspanin 12	Reports Updated as of Jan 04, 2024	PubMed
23	Autism spectrum disorder	Neurodevelopmental disorders	TSC2 TSC complex subunit 2 SLC35A3 solute carrier family 35 member A3 AUTS2 activator of transcription and developmental regulator AUTS2 MEF2C myocyte enhancer factor 2C EHMT1 euchromatic histone lysine methyltransferase 1 TOP2B DNA topoisomerase II beta SHANK2 SH3 and multiple ankyrin repeat domains 2 SNRPN small nuclear ribonucleoprotein polypeptide N SCN2A sodium voltage-gated channel alpha subunit 2 POGZ pogo transposable element derived with ZNF domain CNTNAP2 contactin associated protein 2 PTEN phosphatase and tensin homolog HEPACAM hepatic and glial cell adhesion molecule DEAF1 DEAF1 transcription factor NF1 neurofibromin 1 SBF1 SET binding factor 1 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 KMT2D lysine methyltransferase 2D UBN2 ubinuclein 2 MAP1B microtubule associated protein 1B ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 PTCHD1 patched domain containing 1 SETD5 SET domain containing 5 PTPN11 protein tyrosine phosphatase non-receptor type 11 RERE arginine-glutamic acid dipeptide repeats NR4A2 nuclear receptor subfamily 4 group A member 2 SATB2 SATB homeobox 2 WDFY3 WD repeat and FYVE domain containing 3 ARID1B AT-rich interaction domain 1B KAT6A lysine acetyltransferase 6A STXBP1 syntaxin binding protein 1 ASXL1 ASXL transcriptional regulator 1 ADNP activity dependent neuroprotector homeobox ACTL6B actin like 6B DNMT3A DNA methyltransferase 3 alpha CNTN6 contactin 6 CIC capicua transcriptional repressor CHD2 chromodomain helicase DNA binding protein 2 CSNK2B casein kinase 2 beta KDM6A lysine demethylase 6A DYNC1H1 dynein cytoplasmic 1 heavy chain 1 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 EED embryonic ectoderm development MECP2 methyl-CpG binding protein 2 DCC DCC netrin 1 receptor TCF20 transcription factor 20 NR2F1 nuclear receptor subfamily 2 group F member 1 KDM5B lysine demethylase 5B SETD2 SET domain containing 2, histone lysine methyltransferase CEP104 centrosomal protein 104 SETD1A SET domain containing 1A, histone lysine methyltransferase SPEN spen family transcriptional repressor GRIN2B glutamate ionotropic receptor NMDA type subunit 2B DIP2A disco interacting protein 2 homolog A NBEA neurobeachin KDM3B lysine demethylase 3B ASXL2 ASXL transcriptional regulator 2 CHD3 chromodomain helicase DNA binding protein 3 EBF3 EBF transcription factor 3 GIGYF1 GRB10 interacting GYF protein 1 IRF2BPL interferon regulatory factor 2 binding protein like ASXL3 ASXL transcriptional regulator 3 BCL11B BCL11 transcription factor B HECTD4 HECT domain E3 ubiquitin protein ligase 4 AEBP1 AE binding protein 1 NRXN1 neurexin 1 ANK2 ankyrin 2 TNRC6B trinucleotide repeat containing adaptor 6B RIMS1 regulating synaptic membrane exocytosis 1 CHD8 chromodomain helicase DNA binding protein 8 KMT2A lysine methyltransferase 2A	Reports Updated as of Dec 29, 2023	PubMed
24	Autoimmune hemolytic anemia Autosomal recessive	Blood disorders	SOCS1 suppressor of cytokine signaling 1 TLR8 toll like receptor 8	Reports Updated as of Feb 20, 2024	PubMed
25	Autoimmune lymphoproliferative syndrome Autosomal dominant, Autosomal recessive	Immune disorders	CASP8 caspase 8 FASLG Fas ligand FAS Fas cell surface death receptor PRKCD protein kinase C delta CTLA4 cytotoxic T-lymphocyte associated protein 4 CASP10 caspase 10	Reports Updated as of Jul 20, 2024	PubMed
26	Autoimmune pancreatitis	Gastrointestinal disorders	IL33 interleukin 33 IFNA1 interferon alpha 1 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 SPINK1 serine peptidase inhibitor Kazal type 1 CA2 carbonic anhydrase 2 PRSS1 serine protease 1 CELA1 chymotrypsin like elastase 1 CELA3B chymotrypsin like elastase 3B PRSS58 serine protease 58	Reports Updated as of Jul 20, 2024	PubMed
27	Autosomal dominant hypocalcemia Autosomal dominant	Metabolic disorders	CASR calcium sensing receptor GNA11 G protein subunit alpha 11	Reports Updated as of Jul 20, 2024	PubMed
28	Autosomal dominant polycystic kidney disease Autosomal dominant	Nephrological disorders	PKD2 polycystin 2, transient receptor potential cation channel PKD1 polycystin 1, transient receptor potential channel interacting GANAB glucosidase II alpha subunit DNAJB11 DnaJ heat shock protein family (Hsp40) member B11	Reports Updated as of Jul 20, 2024	PubMed
29	Autosomal dominant Robinow syndrome Autosomal dominant	Bone disorders	WNT5A Wnt family member 5A DVL1 dishevelled segment polarity protein 1 DVL3 dishevelled segment polarity protein 3 FZD2 frizzled class receptor 2 CHN1 chimerin 1	Reports Updated as of Nov 02, 2023	PubMed
30	Autosomal recessive multiple pterygium syndrome Autosomal recessive	Multisystemic disorders	CHRNG cholinergic receptor nicotinic gamma subunit CHRNA1 cholinergic receptor nicotinic alpha 1 subunit	Reports Updated as of Feb 01, 2025	PubMed

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