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
571	Werner syndrome Autosomal recessive	Aging disorders	WRN WRN RecQ like helicase	Reports Updated as of Feb 01, 2025	PubMed
572	Williams syndrome Autosomal dominant	Neurodevelopmental disorders	ELN elastin	Reports Updated as of Sep 05, 2023	PubMed
573	Wilson disease Autosomal recessive	Metabolic disorders	ATP7B ATPase copper transporting beta	Reports Updated as of Sep 05, 2023	PubMed
574	Winchester syndrome Autosomal recessive	Bone disorders	MMP14 matrix metallopeptidase 14	Reports Updated as of Sep 05, 2023	PubMed
575	Wolcott-Rallison dysplasia Autosomal recessive	Multisystemic disorders	EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3	Reports Updated as of Feb 01, 2025	PubMed
576	Wolman disease Autosomal recessive	Metabolic disorders	LIPA lipase A, lysosomal acid type	Reports Updated as of Nov 02, 2023	PubMed
577	X-linked agammaglobulinemia X-linked dominant	Immune disorders	BTK Bruton tyrosine kinase	Reports Updated as of Jul 20, 2024	PubMed
578	X-linked agammaglobulinemia with growth hormone deficiency X-linked recessive	Endocrine disorders	BTK Bruton tyrosine kinase	Reports Updated as of Sep 08, 2025	PubMed
579	X-linked hydrocephalus syndrome X-linked recessive	Neurodevelopmental disorders	L1CAM L1 cell adhesion molecule	Reports Updated as of Feb 10, 2026	PubMed
580	X-linked intellectual disability, van Esch type X-linked recessive	Multisystemic disorders	POLA1 DNA polymerase alpha 1, catalytic subunit	Reports Updated as of Nov 12, 2025	PubMed

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