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
161	Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive	Skin disorders	PLEC plectin	Reports Updated as of Feb 01, 2025	PubMed
162	Essential thrombocythemia Autosomal dominant, X-linked dominant	Blood disorders	MPL MPL proto-oncogene, thrombopoietin receptor	Reports Updated as of Dec 07, 2023	PubMed
163	Ethylmalonic encephalopathy Autosomal recessive	Metabolic disorders	ETHE1 ETHE1 persulfide dioxygenase	Reports Updated as of Dec 07, 2023	PubMed
164	Fabry disease X-linked recessive, X-linked dominant	Metabolic disorders/Lysosomal storage disorders	GLA galactosidase alpha	Reports Updated as of Mar 09, 2023	PubMed
165	Factor VII deficiency Autosomal dominant, Autosomal recessive	Blood disorders	F7 coagulation factor VII	Reports Updated as of Nov 30, 2023	PubMed
166	Familial amyloid nephropathy with urticaria and deafness Autosomal dominant	Nephrological disorders	NLRP3 NLR family pyrin domain containing 3	Reports Updated as of Feb 01, 2024	PubMed
167	Familial benign pemphigus Autosomal dominant	Skin disorders	ATP2C1 ATPase secretory pathway Ca2+ transporting 1	Reports Updated as of Jul 20, 2024	PubMed
168	Familial dysautonomia Autosomal recessive	Neuromuscular disorders	ELP1 elongator acetyltransferase complex subunit 1	Reports Updated as of Feb 01, 2025	PubMed
169	Familial juvenile hyperuricemic nephropathy type 1 Autosomal dominant	Nephrological disorders	UMOD uromodulin	Reports Updated as of Mar 09, 2023	PubMed
170	Familial mediterranean fever Autosomal dominant, Autosomal recessive	Immune disorders	MEFV MEFV innate immunity regulator, pyrin	Reports Updated as of Mar 09, 2023	PubMed

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