GenTIGS

List of monogenic disorders and their associated genes(Heterogeneity and Homogeneity)
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in any one across of 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	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
162	Congenital primary aphakia Autosomal recessive	Eye disorders	FOXE3 forkhead box E3	Reports Updated as of Nov 30, 2023	PubMed
163	Congenital secretory diarrhea, chloride type Autosomal recessive	Gastrointestinal disorders	SLC26A3 solute carrier family 26 member 3	Reports Updated as of Dec 07, 2023	PubMed
164	Congenital sodium diarrhea Autosomal recessive	Gastrointestinal disorders	SPINT2 serine peptidase inhibitor, Kunitz type 2	Reports Updated as of Aug 17, 2026	PubMed
165	Costello syndrome Autosomal dominant	Multisystemic disorders	HRAS HRas proto-oncogene, GTPase	Reports Updated as of Feb 01, 2025	PubMed
166	Craniodiaphyseal dysplasia, autosomal dominant Autosomal dominant	Bone disorders	SOST sclerostin	Reports Updated as of Sep 15, 2022	PubMed
167	Creatine transporter deficiency X-linked recessive	Metabolic disorders	SLC6A8 solute carrier family 6 member 8	Reports Updated as of Nov 12, 2025	PubMed
168	Creutzfeldt-Jakob disease Autosomal dominant	Neurodegenerative disorders	PRNP prion protein	Reports Updated as of Mar 09, 2023	PubMed
169	Crigler-Najjar syndrome type 1 Autosomal recessive	Metabolic disorders	UGT1A1 UDP glucuronosyltransferase family 1 member A1	Reports Updated as of Sep 15, 2022	PubMed
170	Cryopyrin associated periodic syndrome Autosomal dominant	Immune disorders	NLRP3 NLR family pyrin domain containing 3	Reports Updated as of Mar 09, 2023	PubMed

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