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
641	Vitamin D-dependent rickets, type 1A Autosomal recessive	Metabolic disorders	CYP27B1 cytochrome P450 family 27 subfamily B member 1	Reports Updated as of Mar 30, 2026	PubMed
642	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
643	Von Hippel-Lindau syndrome Autosomal dominant	Cancer disorders	VHL von Hippel-Lindau tumor suppressor	Reports Updated as of Sep 05, 2023	PubMed
644	von Willebrand disease Autosomal dominant, Autosomal recessive	Blood disorders	VWF von Willebrand factor	Reports Updated as of Nov 30, 2023	PubMed
645	Waldenstrom macroglobulinemia	Cancer disorders	MYD88 MYD88 innate immune signal transduction adaptor	Reports Updated as of Feb 20, 2024	PubMed
646	Weaver syndrome Autosomal dominant	Developmental / Cancer	EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit	Reports Updated as of Apr 28, 2026	PubMed
647	Werner syndrome Autosomal recessive	Aging disorders	WRN WRN RecQ like helicase	Reports Updated as of Feb 01, 2025	PubMed
648	Williams syndrome Autosomal dominant	Neurodevelopmental disorders	ELN elastin	Reports Updated as of Sep 05, 2023	PubMed
649	Wilson disease Autosomal recessive	Metabolic disorders	ATP7B ATPase copper transporting beta	Reports Updated as of Sep 05, 2023	PubMed
650	Winchester syndrome Autosomal recessive	Bone disorders	MMP14 matrix metallopeptidase 14	Reports Updated as of Sep 05, 2023	PubMed

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