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
381	Multiple sclerosis	Neurodegenerative disorders	NR1H3 nuclear receptor subfamily 1 group H member 3	Reports Updated as of Sep 15, 2022	PubMed
382	Muscle eye brain disease Autosomal recessive	Neuromuscular disorders	POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	Reports Updated as of Feb 01, 2024	PubMed
383	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive	Multisystemic disorders	POMT1 protein O-mannosyltransferase 1	Reports Updated as of Feb 26, 2025	PubMed
384	Myalgic encephalomyelitis	Neuronal disorders	TRPM3 transient receptor potential cation channel subfamily M member 3	Reports Updated as of Sep 05, 2023	PubMed
385	Myasthenia gravis	Neuromuscular disorders	CHAT choline O-acetyltransferase	Reports Updated as of Sep 05, 2023	PubMed
386	MYH9-related disorder Autosomal dominant	Blood disorders	MYH9 myosin heavy chain 9	Reports Updated as of Feb 01, 2024	PubMed
387	Myhre syndrome Autosomal dominant	Bone disorders	SMAD4 SMAD family member 4	Reports Updated as of Feb 01, 2024	PubMed
388	Myoclonic dystonia 11 Autosomal dominant	Neuromuscular disorders	SGCE sarcoglycan epsilon	Reports Updated as of Feb 01, 2025	PubMed
389	Myopathy, lactic acidosis, and sideroblastic anemia 1 Autosomal recessive	Metabolic disorders	PUS1 pseudouridine synthase 1	Reports Updated as of Feb 01, 2025	PubMed
390	Myopathy, tubular aggregate, 1 Autosomal dominant	Neuromuscular disorders	STIM1 stromal interaction molecule 1	Reports Updated as of Feb 01, 2025	PubMed

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