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
31	Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive, Digenic dominant	Ear disorders	GJB2 gap junction protein beta 2 GJB3 gap junction protein beta 3	Reports Updated as of Feb 26, 2025	PubMed
32	Autosomal recessive polycystic kidney disease Autosomal recessive	Nephrological disorders	PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin PKD2 polycystin 2, transient receptor potential cation channel PKD1 polycystin 1, transient receptor potential channel interacting CYS1 cystin 1	Reports Updated as of Sep 15, 2022	PubMed
33	Bardet-Biedl syndrome Autosomal recessive	Eye disorders	WDPCP WD repeat containing planar cell polarity effector SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 BBS12 Bardet-Biedl syndrome 12 BBS10 Bardet-Biedl syndrome 10 CEP290 centrosomal protein 290 TMEM67 transmembrane protein 67 MKS1 MKS transition zone complex subunit 1 ARL6 ADP ribosylation factor like GTPase 6 TTC8 tetratricopeptide repeat domain 8 BBS9 Bardet-Biedl syndrome 9 BBS7 Bardet-Biedl syndrome 7 BBS2 Bardet-Biedl syndrome 2 MKKS MKKS centrosomal shuttling protein BBS5 Bardet-Biedl syndrome 5 TRIM32 tripartite motif containing 32 BBS4 Bardet-Biedl syndrome 4 BBS1 Bardet-Biedl syndrome 1 CFAP418 cilia and flagella associated protein 418 LZTFL1 leucine zipper transcription factor like 1 BBIP1 BBSome interacting protein 1 IFT27 intraflagellar transport 27 IFT172 intraflagellar transport 172 IFT74 intraflagellar transport 74 TRAPPC3 trafficking protein particle complex subunit 3 CEP19 centrosomal protein 19 ALMS1 ALMS1 centrosome and basal body associated protein RPGRIP1L RPGRIP1 like TSPOAP1 TSPO associated protein 1 COMT catechol-O-methyltransferase	Reports Updated as of Sep 05, 2023	PubMed
34	Bartter syndrome Autosomal dominant, Autosomal recessive, X-linked dominant	Nephrological disorders	CLCNKB chloride voltage-gated channel Kb CASR calcium sensing receptor SLC12A3 solute carrier family 12 member 3 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 SLC12A1 solute carrier family 12 member 1	Reports Updated as of Jul 20, 2024	PubMed
35	Beaded hair Autosomal dominant	Hair disorders	KRT83 keratin 83 KRT81 keratin 81 KRT86 keratin 86	Reports Updated as of Feb 01, 2024	PubMed
36	Beckwith-Wiedemann syndrome Autosomal dominant	Developmental / Cancer	CDKN1C cyclin dependent kinase inhibitor 1C NSD1 nuclear receptor binding SET domain protein 1 DNMT1 DNA methyltransferase 1	Reports Updated as of Sep 05, 2023	PubMed
37	Behcet disease Autosomal recessive	Skin disorders	NOD2 nucleotide binding oligomerization domain containing 2 TNFRSF1A TNF receptor superfamily member 1A PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 ADA2 adenosine deaminase 2 MEFV MEFV innate immunity regulator, pyrin	Reports Updated as of Nov 30, 2023	PubMed
38	Bethlem myopathy Autosomal dominant, Autosomal recessive	Neuromuscular disorders	COL6A3 collagen type VI alpha 3 chain COL6A2 collagen type VI alpha 2 chain COL6A1 collagen type VI alpha 1 chain COL12A1 collagen type XII alpha 1 chain	Reports Updated as of Nov 30, 2023	PubMed
39	Bone osteosarcoma Somatic mutation	Cancer disorders	CHEK2 checkpoint kinase 2 TSC2 TSC complex subunit 2	Reports Updated as of Jan 04, 2024	PubMed
40	Brittle cornea syndrome 1 Autosomal recessive	Eye disorders	ZNF469 zinc finger protein 469 PRDM5 PR/SET domain 5	Reports Updated as of Jun 12, 2025	PubMed

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