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 (Gentigs update) Modes of inheritance	Category	Gene symbol	Links	Indian context
71	Combined oxidative phosphorylation defect type 27 (Jul 20, 2024) Autosomal recessive	Metabolic disorders	CARS2 cysteinyl-tRNA synthetase 2, mitochondrial	PubMed	Reports
72	Combined oxidative phosphorylation deficiency 53 (Jul 20, 2024) Autosomal recessive	Neurodevelopmental disorders	C2orf69 chromosome 2 open reading frame 69	PubMed	Reports
73	Complex regional pain syndrome (Mar 09, 2023)	Neuronal disorders	TNF tumor necrosis factor	PubMed	Reports
74	Congenital amegakaryocytic thrombocytopenia (Dec 29, 2023) Autosomal recessive	Blood disorders	MPL MPL proto-oncogene, thrombopoietin receptor	PubMed	Reports
75	Congenital defect of folate absorption (Dec 07, 2023) Autosomal recessive	Metabolic disorders	SLC46A1 solute carrier family 46 member 1	PubMed	Reports
76	Congenital glaucoma (Mar 09, 2023) Autosomal dominant, Autosomal recessive	Eye disorders	CYP1B1 cytochrome P450 family 1 subfamily B member 1	PubMed	Reports
77	Congenital glucose-galactose malabsorption (Jul 20, 2024) Autosomal recessive	Metabolic disorders	SLC5A1 solute carrier family 5 member 1	PubMed	Reports
78	Congenital plasminogen activator inhibitor type 1 deficiency (Nov 30, 2023) Autosomal dominant, Autosomal recessive	Blood disorders	SERPINE1 serpin family E member 1	PubMed	Reports
79	Congenital primary aphakia (Nov 30, 2023) Autosomal recessive	Eye disorders	FOXE3 forkhead box E3	PubMed	Reports
80	Congenital secretory diarrhea, chloride type (Dec 07, 2023) Autosomal recessive	Gastrointestinal disorders	SLC26A3 solute carrier family 26 member 3	PubMed	Reports

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