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
541	Steel syndrome Autosomal recessive	Bone disorders	COL27A1 collagen type XXVII alpha 1 chain	Reports Updated as of Jan 05, 2026	PubMed
542	Steinert myotonic dystrophy syndrome Autosomal dominant	Neuromuscular disorders	DMPK DM1 protein kinase	Reports Updated as of Nov 30, 2023	PubMed
543	STING-associated vasculopathy with onset in infancy Autosomal dominant	Immune disorders	STING1 stimulator of interferon response cGAMP interactor 1	Reports Updated as of Dec 29, 2023	PubMed
544	Striatonigral degeneration, childhood-onset Autosomal recessive	Neurodegenerative disorders	VAC14 VAC14 component of PIKFYVE complex	Reports Updated as of Jan 05, 2026	PubMed
545	Sturge-Weber syndrome Somatic mosaicism	Neuronal disorders	GNAQ G protein subunit alpha q	Reports Updated as of Sep 05, 2023	PubMed
546	Succinate-semialdehyde dehydrogenase deficiency Autosomal recessive	Metabolic disorders	ALDH5A1 aldehyde dehydrogenase 5 family member A1	Reports Updated as of Dec 29, 2023	PubMed
547	Succinyl-CoA acetoacetate transferase deficiency Autosomal recessive	Metabolic disorders	OXCT1 3-oxoacid CoA-transferase 1	Reports Updated as of Dec 29, 2023	PubMed
548	Supravalvar aortic stenosis Autosomal dominant	Cardiovascular disorders	ELN elastin	Reports Updated as of Dec 29, 2023	PubMed
549	Syndromic microphthalmia type 5 Autosomal dominant	Eye disorders	OTX2 orthodenticle homeobox 2	Reports Updated as of Dec 29, 2023	PubMed
550	Synovial sarcoma	Cancer disorders	SSX2 SSX family member 2	Reports Updated as of Dec 29, 2023	PubMed

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