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
391	Succinate-semialdehyde dehydrogenase deficiency Autosomal recessive	Metabolic disorders	ALDH5A1 aldehyde dehydrogenase 5 family member A1	Reports Updated as of Dec 29, 2023	PubMed
392	Succinyl-CoA acetoacetate transferase deficiency Autosomal recessive	Metabolic disorders	OXCT1 3-oxoacid CoA-transferase 1	Reports Updated as of Dec 29, 2023	PubMed
393	Supravalvar aortic stenosis Autosomal dominant	Cardiovascular disorders	ELN elastin	Reports Updated as of Dec 29, 2023	PubMed
394	Syndromic microphthalmia type 5 Autosomal dominant	Eye disorders	OTX2 orthodenticle homeobox 2	Reports Updated as of Dec 29, 2023	PubMed
395	Synovial sarcoma	Cancer disorders	SSX2 SSX family member 2	Reports Updated as of Dec 29, 2023	PubMed
396	T-cell large granular lymphocyte leukemia	Blood disorders	STAT3 signal transducer and activator of transcription 3	Reports Updated as of Feb 20, 2024	PubMed
397	Tarsal-carpal coalition syndrome Autosomal dominant	Bone disorders	NOG noggin	Reports Updated as of Feb 01, 2024	PubMed
398	Thanatophoric dysplasia Autosomal dominant	Bone disorders	FGFR3 fibroblast growth factor receptor 3	Reports Updated as of Nov 30, 2023	PubMed
399	TNF receptor-associated periodic fever syndrome Autosomal dominant	Immune disorders	TNFRSF1A TNF receptor superfamily member 1A	Reports Updated as of Sep 05, 2023	PubMed
400	Transverse myelitis	Immune disorders	VPS37A VPS37A subunit of ESCRT-I	Reports Updated as of Sep 05, 2023	PubMed

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