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
361	Mitochondrial DNA depletion syndrome 13 Autosomal recessive	Metabolic disorders	FBXL4 F-box and leucine rich repeat protein 4	Reports Updated as of Mar 30, 2026	PubMed
362	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Autosomal recessive	Metabolic disorders	MPV17 mitochondrial inner membrane protein MPV17	Reports Updated as of Jul 20, 2024	PubMed
363	Monomelic amyotrophy	Neuromuscular disorders	SLIT1 slit guidance ligand 1	Reports Updated as of Feb 01, 2024	PubMed
364	Morning glory disc anomaly Autosomal dominant	Eye disorders	PAX6 paired box 6	Reports Updated as of Jan 04, 2024	PubMed
365	Mosaic variegated aneuploidy syndrome 2 Autosomal recessive	Multisystemic disorders	CEP57 centrosomal protein 57	Reports Updated as of Feb 01, 2024	PubMed
366	Mucolipidosis type II Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	Reports Updated as of May 24, 2023	PubMed
367	Mucolipidosis type IV Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	MCOLN1 mucolipin TRP cation channel 1	Reports Updated as of Mar 30, 2026	PubMed
368	Mucopolysaccharidosis type 1 Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	IDUA alpha-L-iduronidase	Reports Updated as of Feb 26, 2025	PubMed
369	Mucopolysaccharidosis type 2 X-linked dominant	Metabolic disorders/Lysosomal storage disorders	IDS iduronate 2-sulfatase	Reports Updated as of May 24, 2023	PubMed
370	Mucopolysaccharidosis type 7 Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	GUSB glucuronidase beta	Reports Updated as of Feb 01, 2025	PubMed

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