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
291	Mucopolysaccharidosis type 1 Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	IDUA alpha-L-iduronidase	Reports Updated as of Feb 26, 2025	PubMed
292	Mucopolysaccharidosis type 2 X-linked dominant	Metabolic disorders/Lysosomal storage disorders	IDS iduronate 2-sulfatase	Reports Updated as of May 24, 2023	PubMed
293	Mucopolysaccharidosis type 7 Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	GUSB glucuronidase beta	Reports Updated as of Feb 01, 2025	PubMed
294	Mucopolysaccharidosis, MPS-I-S Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	IDUA alpha-L-iduronidase	Reports Updated as of Sep 08, 2025	PubMed
295	Mucopolysaccharidosis, MPS-IV-A Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	GALNS galactosamine (N-acetyl)-6-sulfatase	Reports Updated as of Sep 05, 2023	PubMed
296	Mucosa-associated lymphoma	Cancer disorders	BCL10 BCL10 immune signaling adaptor	Reports Updated as of Feb 01, 2024	PubMed
297	Muenke syndrome Autosomal dominant	Bone disorders	FGFR3 fibroblast growth factor receptor 3	Reports Updated as of Feb 01, 2024	PubMed
298	Mulibrey nanism syndrome Autosomal recessive	Bone disorders	TRIM37 tripartite motif containing 37	Reports Updated as of Feb 01, 2024	PubMed
299	Multiple congenital exostosis Autosomal dominant	Bone disorders	EXT1 exostosin glycosyltransferase 1	Reports Updated as of Feb 01, 2024	PubMed
300	Multiple fibrofolliculomas Autosomal dominant	Skin disorders	FLCN folliculin	Reports Updated as of Nov 30, 2023	PubMed

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