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
371	Mucopolysaccharidosis, MPS-I-S Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	IDUA alpha-L-iduronidase	Reports Updated as of Sep 08, 2025	PubMed
372	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
373	Mucosa-associated lymphoma	Cancer disorders	BCL10 BCL10 immune signaling adaptor	Reports Updated as of Feb 01, 2024	PubMed
374	Muenke syndrome Autosomal dominant	Bone disorders	FGFR3 fibroblast growth factor receptor 3	Reports Updated as of Feb 01, 2024	PubMed
375	Mulibrey nanism syndrome Autosomal recessive	Bone disorders	TRIM37 tripartite motif containing 37	Reports Updated as of Feb 01, 2024	PubMed
376	Multicentric carpo-tarsal osteolysis with or without nephropathy Autosomal dominant	Bone disorders	MAFB MAF bZIP transcription factor B	Reports Updated as of Mar 30, 2026	PubMed
377	Multiple congenital exostosis Autosomal dominant	Bone disorders	EXT1 exostosin glycosyltransferase 1	Reports Updated as of Feb 01, 2024	PubMed
378	Multiple fibrofolliculomas Autosomal dominant	Skin disorders	FLCN folliculin	Reports Updated as of Nov 30, 2023	PubMed
379	Multiple gastrointestinal atresias Autosomal recessive	Gastrointestinal disorders	TTC7A tetratricopeptide repeat domain 7A	Reports Updated as of Feb 01, 2024	PubMed
380	Multiple mitochondrial dysfunctions syndrome 5 Autosomal recessive	Metabolic disorders	ISCA1 iron-sulfur cluster assembly 1	Reports Updated as of Jul 20, 2024	PubMed

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