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
561	SHORT syndrome Autosomal dominant	Endocrine disorders	PIK3R1 phosphoinositide-3-kinase regulatory subunit 1	Reports Updated as of Dec 29, 2023	PubMed
562	Shprintzen-Goldberg syndrome Autosomal dominant	Bone disorders	SKI SKI proto-oncogene	Reports Updated as of Sep 05, 2023	PubMed
563	Shukla-Vernon syndrome X-linked recessive	Neurodevelopmental disorders	BCORL1 BCL6 corepressor like 1	Reports Updated as of Nov 12, 2025	PubMed
564	Sialidosis type 2 Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	NEU1 neuraminidase 1	Reports Updated as of Sep 05, 2023	PubMed
565	Simpson-Golabi-Behmel syndrome type 1 X-linked recessive	Multisystemic disorders	GPC3 glypican 3	Reports Updated as of Nov 12, 2025	PubMed
566	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
567	Sirenomelia	Multisystemic disorders	CDX2 caudal type homeobox 2	Reports Updated as of Aug 17, 2026	PubMed
568	Sjogren Syndrome Autosomal recessive	Immune disorders	IRF5 interferon regulatory factor 5	Reports Updated as of Mar 09, 2023	PubMed
569	Sjögren-Larsson syndrome Autosomal recessive	Metabolic disorders	ALDH3A2 aldehyde dehydrogenase 3 family member A2	Reports Updated as of Feb 01, 2025	PubMed
570	Smith-Lemli-Opitz syndrome Autosomal recessive	Metabolic disorders	DHCR7 7-dehydrocholesterol reductase	Reports Updated as of Dec 29, 2023	PubMed

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