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
631	Trimethylaminuria Autosomal recessive	Metabolic disorders	FMO3 flavin containing dimethylaniline monoxygenase 3	Reports Updated as of Mar 09, 2023	PubMed
632	Tyrosinemia type 1 Autosomal recessive	Metabolic disorders	FAH fumarylacetoacetate hydrolase	Reports Updated as of Dec 29, 2023	PubMed
633	Ulcerative colitis	Gastrointestinal disorders	NOD2 nucleotide binding oligomerization domain containing 2	Reports Updated as of Sep 05, 2023	PubMed
634	Unverricht-Lundborg syndrome Autosomal recessive	Neurodegenerative disorders	CSTB cystatin B	Reports Updated as of Apr 28, 2026	PubMed
635	Upshaw-Schulman syndrome Autosomal recessive	Blood disorders	ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13	Reports Updated as of Jan 05, 2026	PubMed
636	Variegate porphyria Autosomal dominant	Metabolic disorders	PPOX protoporphyrinogen oxidase	Reports Updated as of Jan 04, 2024	PubMed
637	Vasculitis	Immune disorders	ADA2 adenosine deaminase 2	Reports Updated as of Sep 05, 2023	PubMed
638	Verrucous hemangioma	Cardiovascular disorders	MAP3K3 mitogen-activated protein kinase kinase kinase 3	Reports Updated as of Apr 28, 2026	PubMed
639	Vici syndrome Autosomal recessive	Multisystemic disorders	EPG5 ectopic P-granules 5 autophagy tethering factor	Reports Updated as of Mar 30, 2026	PubMed
640	Vitamin D-dependent rickets type II with alopecia Autosomal recessive	Metabolic disorders	VDR vitamin D receptor	Reports Updated as of Mar 30, 2026	PubMed

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