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
551	Schnyder crystalline corneal dystrophy Autosomal dominant	Eye disorders	UBIAD1 UbiA prenyltransferase domain containing 1	Reports Updated as of Jan 04, 2024	PubMed
552	Schöpf-Schulz-Passarge syndrome Autosomal recessive	Multisystemic disorders	WNT10A Wnt family member 10A	Reports Updated as of Aug 17, 2026	PubMed
553	Schuurs-Hoeijmakers syndrome Autosomal dominant	Neurodevelopmental disorders	PACS1 phosphofurin acidic cluster sorting protein 1	Reports Updated as of Jul 20, 2024	PubMed
554	Schwartz-Jampel syndrome Autosomal recessive	Bone disorders	HSPG2 heparan sulfate proteoglycan 2	Reports Updated as of Feb 20, 2024	PubMed
555	Scimitar syndrome Autosomal dominant	Cardiovascular disorders	MYRF myelin regulatory factor	Reports Updated as of Aug 17, 2026	PubMed
556	Scleroderma	Immune disorders	EXOSC10 exosome component 10	Reports Updated as of Sep 05, 2023	PubMed
557	Sea-blue histiocyte syndrome Autosomal dominant	Metabolic disorders/Lysosomal storage disorders	APOE apolipoprotein E	Reports Updated as of Jan 04, 2024	PubMed
558	Severe congenital nemaline myopathy Autosomal recessive	Neuromuscular disorders	KLHL40 kelch like family member 40	Reports Updated as of Dec 29, 2023	PubMed
559	Sezary syndrome	Cancer disorders	BCL10 BCL10 immune signaling adaptor	Reports Updated as of Dec 29, 2023	PubMed
560	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Autosomal recessive	Bone disorders	POC1A POC1 centriolar protein A	Reports Updated as of Aug 17, 2026	PubMed

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