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
511	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
512	Von Hippel-Lindau syndrome Autosomal dominant	Cancer disorders	VHL von Hippel-Lindau tumor suppressor	Reports Updated as of Sep 05, 2023	PubMed
513	von Willebrand disease Autosomal dominant, Autosomal recessive	Blood disorders	VWF von Willebrand factor	Reports Updated as of Nov 30, 2023	PubMed
514	Waldenstrom macroglobulinemia	Cancer disorders	MYD88 MYD88 innate immune signal transduction adaptor	Reports Updated as of Feb 20, 2024	PubMed
515	Werner syndrome Autosomal recessive	Aging disorders	WRN WRN RecQ like helicase	Reports Updated as of Feb 01, 2025	PubMed
516	Williams syndrome Autosomal dominant	Neurodevelopmental disorders	ELN elastin	Reports Updated as of Sep 05, 2023	PubMed
517	Wilson disease Autosomal recessive	Metabolic disorders	ATP7B ATPase copper transporting beta	Reports Updated as of Sep 05, 2023	PubMed
518	Winchester syndrome Autosomal recessive	Bone disorders	MMP14 matrix metallopeptidase 14	Reports Updated as of Sep 05, 2023	PubMed
519	Wolcott-Rallison dysplasia Autosomal recessive	Multisystemic disorders	EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3	Reports Updated as of Feb 01, 2025	PubMed
520	Wolman disease Autosomal recessive	Metabolic disorders	LIPA lipase A, lysosomal acid type	Reports Updated as of Nov 02, 2023	PubMed

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