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	Supravalvar aortic stenosis Autosomal dominant	Cardiovascular disorders	ELN elastin	Reports Updated as of Dec 29, 2023	PubMed
542	Syndromic microphthalmia type 5 Autosomal dominant	Eye disorders	OTX2 orthodenticle homeobox 2	Reports Updated as of Dec 29, 2023	PubMed
543	Synovial sarcoma	Cancer disorders	SSX2 SSX family member 2	Reports Updated as of Dec 29, 2023	PubMed
544	T-B+ severe combined immunodeficiency due to JAK3 deficiency Autosomal recessive	Immune disorders	JAK3 Janus kinase 3	Reports Updated as of Feb 10, 2026	PubMed
545	T-cell large granular lymphocyte leukemia	Blood disorders	STAT3 signal transducer and activator of transcription 3	Reports Updated as of Feb 20, 2024	PubMed
546	Tarsal-carpal coalition syndrome Autosomal dominant	Bone disorders	NOG noggin	Reports Updated as of Feb 01, 2024	PubMed
547	Temtamy syndrome Autosomal recessive	Multisystemic disorders	C12orf57 chromosome 12 open reading frame 57	Reports Updated as of Feb 10, 2026	PubMed
548	Thanatophoric dysplasia Autosomal dominant	Bone disorders	FGFR3 fibroblast growth factor receptor 3	Reports Updated as of Nov 30, 2023	PubMed
549	Thyroid dyshormonogenesis 6 Autosomal recessive	Endocrine disorders	DUOX2 dual oxidase 2	Reports Updated as of Jan 05, 2026	PubMed
550	TNF receptor-associated periodic fever syndrome Autosomal dominant	Immune disorders	TNFRSF1A TNF receptor superfamily member 1A	Reports Updated as of Sep 05, 2023	PubMed

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