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
151	Dystonia 12 Autosomal dominant	Neurodevelopmental disorders	ATP1A3 ATPase Na+/K+ transporting subunit alpha 3	Reports Updated as of Jan 04, 2024	PubMed
152	Dystonia 28 Autosomal dominant	Neurodevelopmental disorders	KMT2B lysine methyltransferase 2B	Reports Updated as of Mar 09, 2023	PubMed
153	Early-onset generalized limb-onset dystonia Autosomal dominant	Neuromuscular disorders	TOR1A torsin family 1 member A	Reports Updated as of Mar 09, 2023	PubMed
154	EAST syndrome Autosomal recessive	Neurodevelopmental disorders	KCNJ10 potassium inwardly rectifying channel subfamily J member 10	Reports Updated as of Dec 29, 2023	PubMed
155	Eichsfeld type congenital muscular dystrophy Autosomal recessive	Neuromuscular disorders	SELENON selenoprotein N	Reports Updated as of Feb 01, 2025	PubMed
156	Emery-Dreifuss muscular dystrophy 1, X-linked X-linked recessive	Neuromuscular disorders	EMD emerin	Reports Updated as of Feb 01, 2025	PubMed
157	Encephalocraniocutaneous lipomatosis Somatic mosaicism	Neuronal disorders	FGFR1 fibroblast growth factor receptor 1	Reports Updated as of Dec 07, 2023	PubMed
158	Epidermolysis bullosa pruriginosa Autosomal dominant, Autosomal recessive	Skin disorders	COL7A1 collagen type VII alpha 1 chain	Reports Updated as of Jun 12, 2025	PubMed
159	Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive	Skin disorders	PLEC plectin	Reports Updated as of Feb 01, 2025	PubMed
160	Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive	Skin disorders	PLEC plectin	Reports Updated as of Feb 01, 2025	PubMed

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