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
501	Shukla-Vernon syndrome X-linked recessive	Neurodevelopmental disorders	BCORL1 BCL6 corepressor like 1	Reports Updated as of Nov 12, 2025	PubMed
502	Sialidosis type 2 Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	NEU1 neuraminidase 1	Reports Updated as of Sep 05, 2023	PubMed
503	Simpson-Golabi-Behmel syndrome type 1 X-linked recessive	Multisystemic disorders	GPC3 glypican 3	Reports Updated as of Nov 12, 2025	PubMed
504	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 01, 2025	PubMed
505	Sjogren Syndrome Autosomal recessive	Immune disorders	IRF5 interferon regulatory factor 5	Reports Updated as of Mar 09, 2023	PubMed
506	Sjögren-Larsson syndrome Autosomal recessive	Metabolic disorders	ALDH3A2 aldehyde dehydrogenase 3 family member A2	Reports Updated as of Feb 01, 2025	PubMed
507	Smith-Lemli-Opitz syndrome Autosomal recessive	Metabolic disorders	DHCR7 7-dehydrocholesterol reductase	Reports Updated as of Dec 29, 2023	PubMed
508	Sneddon syndrome Autosomal recessive	Skin disorders	ADA2 adenosine deaminase 2	Reports Updated as of Dec 29, 2023	PubMed
509	Solitary median maxillary central incisor Autosomal dominant	Oral disorders	SHH sonic hedgehog signaling molecule	Reports Updated as of Dec 29, 2023	PubMed
510	Sotos syndrome Autosomal dominant	Neurodevelopmental disorders	NSD1 nuclear receptor binding SET domain protein 1	Reports Updated as of Mar 09, 2023	PubMed

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