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
191	Emery-Dreifuss muscular dystrophy 1, X-linked X-linked recessive	Neuromuscular disorders	EMD emerin	Reports Updated as of Feb 01, 2025	PubMed
192	Encephalocraniocutaneous lipomatosis Somatic mosaicism	Neuronal disorders	FGFR1 fibroblast growth factor receptor 1	Reports Updated as of Dec 07, 2023	PubMed
193	Epidermolysis bullosa pruriginosa Autosomal dominant, Autosomal recessive	Skin disorders	COL7A1 collagen type VII alpha 1 chain	Reports Updated as of Jun 12, 2025	PubMed
194	Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive	Skin disorders	PLEC plectin	Reports Updated as of Feb 01, 2025	PubMed
195	Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive	Skin disorders	PLEC plectin	Reports Updated as of Feb 01, 2025	PubMed
196	Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive	Skin disorders	PLEC plectin	Reports Updated as of Feb 01, 2025	PubMed
197	Essential thrombocythemia Autosomal dominant, X-linked dominant	Blood disorders	MPL MPL proto-oncogene, thrombopoietin receptor	Reports Updated as of Dec 07, 2023	PubMed
198	Ethylmalonic encephalopathy Autosomal recessive	Metabolic disorders	ETHE1 ETHE1 persulfide dioxygenase	Reports Updated as of Dec 07, 2023	PubMed
199	Fabry disease X-linked recessive, X-linked dominant	Metabolic disorders/Lysosomal storage disorders	GLA galactosidase alpha	Reports Updated as of Mar 09, 2023	PubMed
200	Factor VII deficiency Autosomal dominant, Autosomal recessive	Blood disorders	F7 coagulation factor VII	Reports Updated as of Nov 30, 2023	PubMed

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