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
421	Van der Woude syndrome 2 Autosomal dominant	Oral disorders	GRHL3 grainyhead like transcription factor 3	Reports Updated as of Nov 02, 2023	PubMed
422	Variegate porphyria Autosomal dominant	Metabolic disorders	PPOX protoporphyrinogen oxidase	Reports Updated as of Jan 04, 2024	PubMed
423	Vasculitis	Immune disorders	ADA2 adenosine deaminase 2	Reports Updated as of Sep 05, 2023	PubMed
424	Vitamin K-dependent clotting factors, combined deficiency of, type 1 Autosomal recessive	Blood disorders	GGCX gamma-glutamyl carboxylase	Reports Updated as of Nov 30, 2023	PubMed
425	Von Hippel-Lindau syndrome Autosomal dominant	Cancer disorders	VHL von Hippel-Lindau tumor suppressor	Reports Updated as of Sep 05, 2023	PubMed
426	von Willebrand disease Autosomal dominant, Autosomal recessive	Blood disorders	VWF von Willebrand factor	Reports Updated as of Nov 30, 2023	PubMed
427	Waldenstrom macroglobulinemia	Cancer disorders	MYD88 MYD88 innate immune signal transduction adaptor	Reports Updated as of Feb 20, 2024	PubMed
428	Werner syndrome Autosomal recessive	Aging disorders	WRN WRN RecQ like helicase	Reports Updated as of Feb 01, 2025	PubMed
429	Williams syndrome Autosomal dominant	Neurodevelopmental disorders	ELN elastin	Reports Updated as of Sep 05, 2023	PubMed
430	Wilson disease Autosomal recessive	Metabolic disorders	ATP7B ATPase copper transporting beta	Reports Updated as of Sep 05, 2023	PubMed

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