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
561	Upshaw-Schulman syndrome Autosomal recessive	Blood disorders	ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13	Reports Updated as of Jan 05, 2026	PubMed
562	Variegate porphyria Autosomal dominant	Metabolic disorders	PPOX protoporphyrinogen oxidase	Reports Updated as of Jan 04, 2024	PubMed
563	Vasculitis	Immune disorders	ADA2 adenosine deaminase 2	Reports Updated as of Sep 05, 2023	PubMed
564	Vici syndrome Autosomal recessive	Multisystemic disorders	EPG5 ectopic P-granules 5 autophagy tethering factor	Reports Updated as of Mar 30, 2026	PubMed
565	Vitamin D-dependent rickets type II with alopecia Autosomal recessive	Metabolic disorders	VDR vitamin D receptor	Reports Updated as of Mar 30, 2026	PubMed
566	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
567	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
568	Von Hippel-Lindau syndrome Autosomal dominant	Cancer disorders	VHL von Hippel-Lindau tumor suppressor	Reports Updated as of Sep 05, 2023	PubMed
569	von Willebrand disease Autosomal dominant, Autosomal recessive	Blood disorders	VWF von Willebrand factor	Reports Updated as of Nov 30, 2023	PubMed
570	Waldenstrom macroglobulinemia	Cancer disorders	MYD88 MYD88 innate immune signal transduction adaptor	Reports Updated as of Feb 20, 2024	PubMed

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