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
91	Congenital hypotrichosis with juvenile macular dystrophy Autosomal recessive	Hair disorders	CDH3 cadherin 3	Reports Updated as of Feb 26, 2025	PubMed
92	Congenital lipoid adrenal hyperplasia due to STAR deficency Autosomal recessive	Metabolic disorders	STAR steroidogenic acute regulatory protein	Reports Updated as of Feb 01, 2025	PubMed
93	Congenital myotonia, autosomal dominant form Autosomal dominant	Neuromuscular disorders	CLCN1 chloride voltage-gated channel 1	Reports Updated as of Feb 26, 2025	PubMed
94	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
95	Congenital primary aphakia Autosomal recessive	Eye disorders	FOXE3 forkhead box E3	Reports Updated as of Nov 30, 2023	PubMed
96	Congenital secretory diarrhea, chloride type Autosomal recessive	Gastrointestinal disorders	SLC26A3 solute carrier family 26 member 3	Reports Updated as of Dec 07, 2023	PubMed
97	Costello syndrome Autosomal dominant	Multisystemic disorders	HRAS HRas proto-oncogene, GTPase	Reports Updated as of Feb 01, 2025	PubMed
98	Craniodiaphyseal dysplasia, autosomal dominant Autosomal dominant	Bone disorders	SOST sclerostin	Reports Updated as of Sep 15, 2022	PubMed
99	Creutzfeldt-Jakob disease Autosomal dominant	Neurodegenerative disorders	PRNP prion protein	Reports Updated as of Mar 09, 2023	PubMed
100	Crigler-Najjar syndrome type 1 Autosomal recessive	Metabolic disorders	UGT1A1 UDP glucuronosyltransferase family 1 member A1	Reports Updated as of Sep 15, 2022	PubMed

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