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
581	Werner syndrome Autosomal recessive	Aging disorders	WRN WRN RecQ like helicase	Reports Updated as of Feb 01, 2025	PubMed
582	Williams syndrome Autosomal dominant	Neurodevelopmental disorders	ELN elastin	Reports Updated as of Sep 05, 2023	PubMed
583	Wilson disease Autosomal recessive	Metabolic disorders	ATP7B ATPase copper transporting beta	Reports Updated as of Sep 05, 2023	PubMed
584	Winchester syndrome Autosomal recessive	Bone disorders	MMP14 matrix metallopeptidase 14	Reports Updated as of Sep 05, 2023	PubMed
585	Wolcott-Rallison dysplasia Autosomal recessive	Multisystemic disorders	EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3	Reports Updated as of Feb 01, 2025	PubMed
586	Wolman disease Autosomal recessive	Metabolic disorders	LIPA lipase A, lysosomal acid type	Reports Updated as of Nov 30, 2023	PubMed
587	Woodhouse-Sakati syndrome Autosomal recessive	Multisystemic disorders	DCAF17 DDB1 and CUL4 associated factor 17	Reports Updated as of Apr 28, 2026	PubMed
588	X-linked agammaglobulinemia X-linked dominant	Immune disorders	BTK Bruton tyrosine kinase	Reports Updated as of Jul 20, 2024	PubMed
589	X-linked agammaglobulinemia with growth hormone deficiency X-linked recessive	Endocrine disorders	BTK Bruton tyrosine kinase	Reports Updated as of Sep 08, 2025	PubMed
590	X-linked chondrodysplasia punctata 1 X-linked recessive	Bone disorders	ARSL arylsulfatase L	Reports Updated as of Apr 28, 2026	PubMed

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