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
371	Sialidosis type 2 Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	NEU1 neuraminidase 1	Reports Updated as of Sep 05, 2023	PubMed
372	SIN3A-related intellectual disability syndrome due to a point mutation Autosomal dominant	Neurodevelopmental disorders	SIN3A SIN3 transcription regulator family member A	Reports Updated as of Feb 04, 2025	PubMed
373	Sjogren Syndrome Autosomal recessive	Immune disorders	IRF5 interferon regulatory factor 5	Reports Updated as of Mar 09, 2023	PubMed
374	Sjögren-Larsson syndrome Autosomal recessive	Metabolic disorders	ALDH3A2 aldehyde dehydrogenase 3 family member A2	Reports Updated as of Feb 01, 2025	PubMed
375	Smith-Lemli-Opitz syndrome Autosomal recessive	Metabolic disorders	DHCR7 7-dehydrocholesterol reductase	Reports Updated as of Dec 29, 2023	PubMed
376	Sneddon syndrome Autosomal recessive	Skin disorders	ADA2 adenosine deaminase 2	Reports Updated as of Dec 29, 2023	PubMed
377	Solitary median maxillary central incisor Autosomal dominant	Oral disorders	SHH sonic hedgehog signaling molecule	Reports Updated as of Dec 29, 2023	PubMed
378	Sotos syndrome Autosomal dominant	Neurodevelopmental disorders	NSD1 nuclear receptor binding SET domain protein 1	Reports Updated as of Mar 09, 2023	PubMed
379	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Autosomal recessive	Neuromuscular disorders	ASAH1 N-acylsphingosine amidohydrolase 1	Reports Updated as of Feb 01, 2025	PubMed
380	Spinocerebellar ataxia 12 Autosomal dominant	Neurodegenerative disorders	PPP2R2B protein phosphatase 2 regulatory subunit Bbeta	Reports Updated as of Nov 02, 2023	PubMed

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