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	Congenital plasminogen activator inhibitor type 1 deficiency Autosomal dominant, Autosomal recessive	Blood disorders	SERPINE1 serpin family E member 1	Reports Updated as of Nov 30, 2023	PubMed
152	Congenital primary aphakia Autosomal recessive	Eye disorders	FOXE3 forkhead box E3	Reports Updated as of Nov 30, 2023	PubMed
153	Congenital secretory diarrhea, chloride type Autosomal recessive	Gastrointestinal disorders	SLC26A3 solute carrier family 26 member 3	Reports Updated as of Dec 07, 2023	PubMed
154	Costello syndrome Autosomal dominant	Multisystemic disorders	HRAS HRas proto-oncogene, GTPase	Reports Updated as of Feb 01, 2025	PubMed
155	Craniodiaphyseal dysplasia, autosomal dominant Autosomal dominant	Bone disorders	SOST sclerostin	Reports Updated as of Sep 15, 2022	PubMed
156	Creatine transporter deficiency X-linked recessive	Metabolic disorders	SLC6A8 solute carrier family 6 member 8	Reports Updated as of Nov 12, 2025	PubMed
157	Creutzfeldt-Jakob disease Autosomal dominant	Neurodegenerative disorders	PRNP prion protein	Reports Updated as of Mar 09, 2023	PubMed
158	Crigler-Najjar syndrome type 1 Autosomal recessive	Metabolic disorders	UGT1A1 UDP glucuronosyltransferase family 1 member A1	Reports Updated as of Sep 15, 2022	PubMed
159	Cryopyrin associated periodic syndrome Autosomal dominant	Immune disorders	NLRP3 NLR family pyrin domain containing 3	Reports Updated as of Mar 09, 2023	PubMed
160	Cushing syndrome	Endocrine disorders	ARMC5 armadillo repeat containing 5	Reports Updated as of Mar 09, 2023	PubMed

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