GenTIGS

List of monogenic disorders and their associated genes(Heterogeneity and Homogeneity)
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in any one across of 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
571	Sneddon syndrome Autosomal recessive	Skin disorders	ADA2 adenosine deaminase 2	Reports Updated as of Dec 29, 2023	PubMed
572	Solitary median maxillary central incisor Autosomal dominant	Oral disorders	SHH sonic hedgehog signaling molecule	Reports Updated as of Dec 29, 2023	PubMed
573	Sotos syndrome Autosomal dominant	Neurodevelopmental disorders	NSD1 nuclear receptor binding SET domain protein 1	Reports Updated as of Mar 09, 2023	PubMed
574	Sphingolipid activator protein 1 deficiency Autosomal recessive	Metabolic disorders	PSAP prosaposin	Reports Updated as of Feb 10, 2026	PubMed
575	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Autosomal recessive	Neuromuscular disorders	ASAH1 N-acylsphingosine amidohydrolase 1	Reports Updated as of Feb 01, 2025	PubMed
576	Spinocerebellar ataxia 12 Autosomal dominant	Neurodegenerative disorders	PPP2R2B protein phosphatase 2 regulatory subunit Bbeta	Reports Updated as of Nov 30, 2023	PubMed
577	Spinocerebellar ataxia 46 Autosomal dominant	Neurodegenerative disorders	PLD3 phospholipase D family member 3	Reports Updated as of Apr 17, 2024	PubMed
578	Spinocerebellar ataxia type 1 Autosomal dominant	Neurodegenerative disorders	ATXN1 ataxin 1	Reports Updated as of Apr 17, 2024	PubMed
579	Spinocerebellar ataxia type 10 Autosomal dominant	Neurodegenerative disorders	ATXN10 ataxin 10	Reports Updated as of Apr 17, 2024	PubMed
580	Spinocerebellar ataxia type 14 Autosomal dominant	Neurodegenerative disorders	PRKCG protein kinase C gamma	Reports Updated as of Apr 17, 2024	PubMed

First «56 57 58 59 60 »Last 67 pages