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
401	Spondyloepiphyseal dysplasia with congenital joint dislocations Autosomal recessive	Bone disorders	CHST3 carbohydrate sulfotransferase 3	Reports Updated as of Mar 09, 2023	PubMed
402	Steatocystoma multiplex Autosomal dominant	Skin disorders	KRT17 keratin 17	Reports Updated as of Dec 29, 2023	PubMed
403	Steinert myotonic dystrophy syndrome Autosomal dominant	Neuromuscular disorders	DMPK DM1 protein kinase	Reports Updated as of Nov 30, 2023	PubMed
404	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
405	Sturge-Weber syndrome Somatic mosaicism	Neuronal disorders	GNAQ G protein subunit alpha q	Reports Updated as of Sep 05, 2023	PubMed
406	Succinate-semialdehyde dehydrogenase deficiency Autosomal recessive	Metabolic disorders	ALDH5A1 aldehyde dehydrogenase 5 family member A1	Reports Updated as of Dec 29, 2023	PubMed
407	Succinyl-CoA acetoacetate transferase deficiency Autosomal recessive	Metabolic disorders	OXCT1 3-oxoacid CoA-transferase 1	Reports Updated as of Dec 29, 2023	PubMed
408	Supravalvar aortic stenosis Autosomal dominant	Cardiovascular disorders	ELN elastin	Reports Updated as of Dec 29, 2023	PubMed
409	Syndromic microphthalmia type 5 Autosomal dominant	Eye disorders	OTX2 orthodenticle homeobox 2	Reports Updated as of Dec 29, 2023	PubMed
410	Synovial sarcoma	Cancer disorders	SSX2 SSX family member 2	Reports Updated as of Dec 29, 2023	PubMed

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